Cardiovascular risk in Cuban adolescents and young adults with congenital adrenal hyperplasia.

BACKGROUND: Hyperandrogenism and supraphysiologic glucocorticoid replacement may lead to subclinical atherosclerosis in people with congenital adrenal hyperplasia (CAH) and predispose the development of cardiovascular diseases from an early age. OBJECTIVES: To determine if cardiometabolic risk factors and subclinical atherosclerosis are more frequent in patients with CAH due to 21-hydroxylase deficiency (21OHD) and if there is an association with clinical, hormonal and treatment of 21OHD. MATERIAL AND METHODS: A descriptive prospective cross-sectional study exploring clinical variables, biochemical, hormonal variables, endothelial dysfunction (flow-mediated dilation < 5%) and carotid intima media thickness (≥ 95 percentile in adolescents and ≥ 75 percentile in adults) and epicardial fat. Adolescents and young patients with 21OHD were compared with controls matched by age, sex, body mass index and Tanner stage. RESULTS: Forty four subjects (22 with CAH), 36 (82%) females, with a mean age of 17.1 ± 5.5 years (range 10-30 years) were included. Family history revealed diabetes, hypertension, and hypercholesterolemia with high frequencies in both groups. The blood pressure was similar in both groups. Blood glucose levels were lower and triglycerides higher in patient (both p < 0.01). Epicardial fat was similar between groups and in patients with CAH it was related to cholesterol levels ​​(r = 0.679, p < 0.01), time since CAH diagnosis (r = 0.462, p = 0.03) and glucocorticoid dose (r = 0.499, p = 0.04). Carotid intima media thickness (CIMT) had a tendency to be increased in patients (p = 0.07) and was directly related to 17-hydroxyprogesterone (r = 0.510, p = 0.018), diastolic blood pressure (r = 0.444, p = 0.04) and the homeostatic model assessment (HOMA) index (r = 0.507, p = 0.01). Endothelial dysfunction was not different between groups. CONCLUSIONS: Some cardiometabolic risk factors were increased in patients with CAH and were associated with clinical, hormonal and treatment parameters of CAH. Cardiometabolic risk should be evaluated regularly in patients with CAH.

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH cases. OBJECTIVES: To characterize the genotype of patients clinically diagnosed with 21OHD and to identify the most frequent mutations in the Cuban population. METHODS: Cross-sectional descriptive study that included all patients diagnosed with 21OHD from January 2000 to December 2018. For the molecular analysis of the CYP21A2 gene, a protocol was used that used the polymerase chain reaction in 2 stages; in the first stage genomic DNA was amplified and 5 point mutations were detected in the second stage (Intron 2, Deletion of 8 bp, G318X, I172N and P30L). RESULTS: The 5 point mutations were identified in 31 of the 55 (56%) studied patients, 16/21 (76%) in the salt-wasting, 12/18 (67%) in the simple virilizing and 3/16 (19%) in the nonclassical form. The Intron 2 mutation was the most frequent, followed by G318X and 8 bp deletion. Compound heterozygotes were found in 10 patients, all corresponded to classic forms of the disease. CONCLUSIONS: The causal CYP21A2 gene mutation was detected in 56% (72% in classic CAH), which makes the method encouraging. The most frequent mutations observed were Intron 2 and G318X. The detection of mutations offers confirmation of diagnosis, prediction of phenotype and genetic counseling.

An Exploratory Study of Itolizumab on the Preservation of Beta Cell Function in Adults with Recent-Onset Type 1 Diabetes.

We conducted a phase I-IIa, randomized, monocentric, double-blind, placebo-controlled clinical trial to evaluate the safety and impact of the combination treatment of Itolizumab and insulin on preserving beta cell function in adults with recent-onset type 1 diabetes. Twelve patients were randomly assigned to three treatment groups, each receiving a different Itolizumab dose (0.4/0.8/1.6 mg/kg body weight, respectively) and a placebo group. All patients received concomitant intensive multiple-dose insulin therapy. Endogenous insulin secretion was assessed by the measurement of C-peptide during the mixed-meal tolerance test. No serious adverse events were reported. No changes in the total daily insulin doses, glycated hemoglobin levels, and stimulated C-peptide were observed between the Itolizumab and placebo groups at 52 weeks. A significant decrease in stimulated C-peptide was observed during the follow-up period (p = 0.012). One subject treated with 1.6 mg of Itolizumab showed a marked increase in the levels of stimulated C-peptide three years after completion of the trial. Taken together, this is the first study to demonstrate that combination treatment with Itolizumab and insulin is safe in humans and does not affect the residual function of beta cells up to 52 weeks. The findings from our study show preliminary evidence that high doses of Itolizumab could potentially arrest the loss of beta cell function in the long term. Further studies with a longer follow-up and larger numbers of patients are envisaged to assess the effect with high dose Itolizumab.

Temporal trends of circulating nitric oxide and pro-inflammatory cytokine responses ex vivo in intra-abdominal sepsis: results from a cohort study.

OBJECTIVE AND DESIGN: To evaluate the association of pro-inflammatory mediators with organ dysfunction and adverse outcome in intra-abdominal sepsis patients. SUBJECTS: Twenty-one patients admitted to the Intensive Care Unit (ICU) were prospectively included in the study. Only patients with surgical diagnosis of intra-abdominal sepsis were enrolled. RESULTS: Tumor necrosis factor-α (TNFα) and interleukin (IL)-6 produced ex vivo were significantly lower in non-survivors on admission (p = 0.021) and day 2 (p = 0.013), respectively. Nitric oxide (NO(x)) levels were significantly higher in non-survivors from the onset of sepsis and until day 4 after diagnosis (p < 0.05). Circulating lymphocyte counts were lower in non-survivors after admission over time, but there was no association with impaired cytokine production in this group of patients during the entire follow-up. All non-survivors developed nosocomial pneumonia concomitantly with multiple organ dysfunction and septic shock. There was a significant correlation between nitric oxide (NO(x)) concentrations and the sequential organ failure assessment (SOFA) score at day 2 (r = 0.598, p = 0.009), and ICU stay (r = 0.605, p = 0.006). Continuously high NO(x) levels correlated with organ failure. The pro-inflammatory mediators TNFα, IL-6 and NO(x), and also the Simplified Acute Physiology Score II (SAPS-II), discriminate survivors from non-survivors. According to logistic regression models, although these parameters are independently associated with the outcome, they do not improve the predictive power of the SAPS-II score for mortality risk. CONCLUSIONS: Disturbances in inflammatory responses and increase in NO(x) generation seem to characterize early intra-abdominal sepsis, in which immune suppression is associated with an increased susceptibility to nosocomial infections. Sequential NO(x) determinations could be a useful approach for improving the management of patients with intra-abdominal sepsis.

[The health system of Cuba]. / Sistema de salud de Cuba.

This paper describes the health conditions in Cuba and the general characteristics of the Cuban health system, including its structure and coverage, its financial sources, its health expenditure, its physical, material and human resources, and its stewardship functions. It also discusses the increasing importance of its research institutions and the role played by its users in the operation and evaluation of the system. Salient among the social actors involved in the health sector are the Cuban Women Federation and the Committees for the Defense of the Revolution. The paper concludes with the discussion of the most recent innovations implemented in the Cuban health system, including the cardiology networks, the Miracle Mission (Misión Milagro) and the Battle of Ideas (Batalla de Ideas).

Bone Mass in Young Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

BACKGROUND: The effects of hyperandrogenism and steroid treatment on bone mineral density (BMD) in patients with congenital adrenal hyperplasia (CAH) are controversial. OBJECTIVES: The objectives of this study were to characterize BMD and fractures in patients with CAH and to identify whether there is an association between alterations in BMD, nutritional status, and variables related to the disease. METHODS: A cross-sectional descriptive study was conducted to explore clinical, hormonal, dairy consumption, physical activity, and BMD variables in patients with CAH due to 21-hydroxylase deficiency and controls matched by age, gender, skin color, body mass index, and Tanner scale. RESULTS: Fifty subjects (CAH n = 25; females n = 42 [84%]) with a mean age of 15.9 ± 5.8 years were included in the study. White skin color predominated in 34 subjects (68%), mestizo in 11 (22%), and black in 5 (10%). In patients with CAH, BMD lumbar spine was decreased compared to that in controls (0.83 ± 0.23 vs. 0.98 ± 0.26 g/cm3, p = 0.004). BMD femur was also decreased in patients with CAH; however, this was not significant (0.95 ± 0.20 vs. 1.04 ± 0.24 g/cm3, p = 0.17). There was a positive relationship between age at diagnosis, age of initiation of glucocorticoid treatment, and testosterone levels with all measurements of BMD. The daily glucocorticoid dose was negatively related to BMD. No fractures were found. CONCLUSIONS: Patients with CAH had decreased BMD, especially in lumbar spine. Increased androgen exposure seemed to improve, while increased glucocorticoid dose impaired BMD.

Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba.

BACKGROUND: There are several studies that show a good genotype-phenotype correlation in congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). However, there is well-documented evidence of inconsistency in some cases. OBJECTIVES: To determine if there is a correlation between the identified mutations and the clinical manifestations of 21OHD in the Cuban population. METHODS: A cross-sectional descriptive study of all patients referred for a molecular diagnosis of 21OHD in Cuba from January 2000 to December 2018. The clinical manifestations of each patient were identified and classified according to the phenotype. The CYP21A2 gene was analyzed for the presence of 5 point mutations involved in the pathogenesis of 21OHD (intron 2, deletion of 8bp, I172N, P30L, and Q318X); correlation was sought between the phenotypic characteristics and the frequencies of point mutations in the patients using the Spearman test. RESULTS: A total of 55 patients underwent direct analysis of the CYP21A2 gene in order to determine the presence of the 5 point mutations. Point mutations were identified in 31 patients, which corresponded to 56%. A statistically significant genotype-phenotype correlation was found. CONCLUSIONS: The correlation between the detected molecular defect and the clinical expression of 21OHD was reasonable in the Cuban population, which could allow phenotypic predictions to be made from the genotype.

Masa ósea en mujeres de edad mediana del Policlínico 19 de abril / Bone Mass in Middle-Aged Women from Policlínico 19 de Abril of Havana

Introducción: La osteoporosis es una enfermedad esquelética difusa caracterizada por una disminución generalizada de la resistencia ósea, que predispone a un mayor riesgo de fracturas por fragilidad y está reconocida como un grave problema de salud. Objetivo: Determinar la masa ósea en mujeres de edad mediana y algunos factores relacionados con ella. Métodos: Se realizó un estudio descriptivo transversal en mujeres de edad mediana del Policlínico 19 de abril. De la planilla de recolección de datos se extrajeron: edad, color de la piel, etapa climatérica, número de partos, meses de lactancia, resultados hormonales. Se realizó densitometría para determinar mujeres con hueso normal, baja masa ósea u osteopenia y osteoporosis, y se asociaron con algunos factores de riesgo. Resultados: Se estudiaron 82 mujeres. El 67,07 por ciento tuvo masa ósea normal en la columna lumbar, un 19,51 por ciento baja masa ósea u osteopenia y un 13,42 por ciento osteoporosis. En la cadera izquierda la mayoría (91,46 por ciento) presentó masa ósea normal. De las perimenopáusicas, una entre 50 y 54 años presentó baja masa ósea; en posmenopáusicas predominó la osteoporosis en el grupo de 50-54 (50 por ciento), en las de 55-59, las que tenían hueso normal y osteopenia (41,2 por ciento cada una). En las posmenopáusicas, las que tenían la piel blanca fueron las que presentaron mayor afectación de la masa ósea. A mayor tiempo de posmenopausia menor masa ósea (p= 0,031*), a niveles más elevados de hormona luteinizante (p= 0,000) y foliculoestimulante (p= 0,000), menor densidad mineral ósea en la columna lumbar y cadera izquierda; a niveles más elevados de estradiol (p= 0,000), mayor densidad mineral ósea en ambas localizaciones. Conclusiones: Se concluye que la mayoría de las mujeres de edad mediana del policlínico 19 de abril tenían hueso normal; la osteoporosis predominó en los grupos de mayor edad y el color de la piel blanca. Mayor tiempo de posmenopausia y niveles elevados de hormona luteinizante y foliculoestimulante se asociaron con mala masa ósea; niveles elevados de estradiol con mejor masa ósea(AU)

Introduction: Osteoporosis is a diffuse skeletal disease characterized by a generalized decrease in bone resistance, which predisposes patients to an increased risk of fragility fractures and is recognized as a serious health problem. Objective: To determine bone mass in middle-aged women and some factors related to it. Methods: A descriptive and cross-sectional study was carried out in middle-aged women from the Policlínico 19 de Abril. The following data were extracted from the data collection form: age, skin color, climacteric stage, number of deliveries, breastfeeding months, hormonal results. Densitometry was performed to determine women with normal bone, low bone mass or osteopenia and osteoporosis, and these were associated with some risk factors. Results: A group of 82 women were studied. Of them, 67.07percent had normal bone mass in the lumbar spine, 19.51percent had low bone mass or osteopenia, and 13.42percent ad osteoporosis. On the left hip, the majority (91.46percent) had normal bone mass. Of the perimenopausal women, one aged 50-54 years had low bone mass; among postmenopausal women, osteoporosis predominated in the 50-54 age group (50percent), as well as in those aged 55-59, those with normal bone mass and osteopenia (41.2percent for each condition). In the postmenopausal women, those with white skin were the most affected in bone mass. The longer the postmenopausal period, the lower the bone mass (p = 0.031*); the higher the levels of luteinizing hormone (p = 0.000) and the follicle stimulating hormone (p = 0.000), the lower bone mineral density on the lumbar spine and left hip; the higher the levels of estradiol (p = 0.000), the higher bone mineral density on both locations. Conclusions: Most middle-aged women from the Policlínico April 19 were concluded to have normal bone; osteoporosis predominated in older age groups and white skin color. Longer postmenopausal time and higher levels of luteinizing hormone and the follicle stimulating hormone were associated with poor bone mass; high levels of estradiol were associated with better bone mass(AU)

Valores de referencia para la tirotropina y hormonas tiroideas en embarazadas cubanas / Reference values for thyrotropin and thyroid hormones in pregnant women in Cuba

Introducción: Los parámetros de función tiroidea en las embarazadas se modifican durante el embarazo y son específicos para cada población. Objetivo: Establecer los valores de referencia para la tirotropina y las hormonas tiroideas en una población de embarazadas cubanas. Métodos: Estudio transversal, en el municipio Plaza de la Revolución de La Habana, Cuba, a 362 gestantes sin antecedentes personales o familiares de enfermedad tiroidea, con anticuerpos anti-tiroideos negativos y ausencia de lesiones en el ultrasonido tiroideo. Se analizaron edad materna, edad gestacional, raza, hábito de fumar, paridad, uso de suplementos yodados, índice de masa corporal, tirotropina, tiroxina total y libre, triyodotironina total y libre. Se establecieron los intervalos de referencia para cada parámetro mediante los percentiles 2,5 y 97,5 como límites inferior y superior, respectivamente. Resultados: Los valores de referencia en el primer, segundo y tercer trimestres fueron para la tirotropina 0,1-3,3 mUI/L, 0,6-3,4 mUI/L y 0,3-3,9 mUI/L; para la TT4 90,1-204,1 nmol/L, 92,2-189,2 nmol/L y 79,8-170,4 nmol/L; para la FT4 7,3-16,7 pmol/L, 6,3-17,3 pmol y 5,6-12,7 pmol/L; para la TT3 1,8-3,9 nmol/L, 1,8-3,9 nmol/L y 1,7-4,0 nmol/L y para la FT3 1,0-7,4 pmol/L, 0,7-6,3 pmol/L y 0,7-5,4 pmol/L, respectivamente. Conclusiones: Se determinaron por primera vez los valores de referencia para la tirotropina y las hormonas tiroideas en una población de embarazadas cubanas; estos difieren de los establecidos por los kits diagnósticos y de los recomendados por las guías internacionales previas (AU)

Introduction: Thyroid function parameters in pregnant women are modified during pregnancy and are specific for each population. Objective: To establish reference values for thyrotropin and thyroid hormones in a population of Cuban pregnant women. Methods: Cross-sectional study, in the Plaza de la Revolución municipality, of 362 pregnant women without personal or family history of thyroid disease, with negative anti-thyroid antibodies and absence of lesions in the thyroid ultrasound. Maternal age, gestational age, race, smoking, number of pregnancies, use of iodine supplements, body mass index, thyrotropin, total (TT4) and free (FT4) thyroxine, total (TT3) and free (FT3) triiodothyronine were analyzed. Reference intervals were established for each parameter using the 2.5 and 97.5 percentiles as lower and upper limits, respectively. Results: The reference values in the first, second and third trimesters were for thyrotropin 0.1-3.3 mIUI/L, 0.6-3.4 mIU/L and 0.3-3.9 mIU/L; for TT4 90.1-204.1 nmol/L, 92.2-189.2 nmol/L and 79.8-170.4 nmol/L; for FT4 7.3-16.7 pmol/L, 6.3-17.3 pmol and 5.6-12.7 pmol/L; for TT3 1.8-3.9 nmol/L, 1.8-3.9 nmol/L and 1.7-4.0 nmol/L and for FT3 1.0-7.4 pmol/L, 0.7-6.3 pmol/L and 0.7-5.4 pmol/L, respectively. Conclusions: Reference values for thyrotropin and thyroid hormones were determined for the first time in a population of Cuban pregnant women. These values differ from those established by the manufacturer of the diagnostic kits and from those recommended by previous international guidelines (AU)

Años de vida saludable perdidos por diabetes mellitus en Cuba / Years of Healthy Life Lost Due to Diabetes Mellitus in Cuba

Introducción: El reciente incremento de la prevalencia de la diabetes mellitus en Cuba sucedió con mayor celeridad, y las políticas encaminadas a su control requieren de su cuantificación sistemática. Objetivo: Identificar las diferencias en Cuba, según provincia y sexo, de los años de vida saludable perdidos por la diabetes mellitus en el 2015. Métodos: En el estudio de extensión nacional se obtuvieron los años de vida saludable perdidos como resultado de la suma de los años perdidos de vida potencial por mortalidad prematura y los años de vida perdidos por morbilidad y otros indicadores para identificar la mortalidad temprana en el año 2015. Resultados: En todas las provincias los índices de años de vida saludable perdidos por morbilidad superaron los de mortalidad prematura con predominio del sexo femenino, mientras en la mayoría de las provincias, las edades de las defunciones fueron más tempranas en el masculino. Las diferencias halladas permitieron agrupar a Artemisa, La Habana, Mayabeque, Matanzas, Villa Clara, Cienfuegos, Santi Spíritus y Camagüey, con los mayores promedios de años perdidos por morbilidad y fallecimientos más tardíos, y al resto de las provincias cubanas, con los menores años perdidos por morbilidad, pero con defunciones en edades más tempranas. Conclusiones: Las pérdidas de años de vida saludable difieren según el sexo y la provincia. Este conocimiento permite la identificación de diferentes patrones de morbimortalidad útiles para orientar las acciones de prevención y control de la enfermedad para cada territorio(AU)

Introduction: The recent increase in the prevalence of diabetes mellitus in Cuba occurred more rapidly, and policies aimed at its control require systematic quantification. Objective: To identify the differences in Cuba, according to province and sex, of the years of healthy life lost due to diabetes mellitus in 2015. Methods: The national extension study collected data on the healthy years of life lost as a result of the sum of years lost from potential life due to premature mortality and years of life lost due to morbidity and other indicators to identify early mortality in 2015. Results: In all provinces, the rates of years of healthy life lost due to morbidity exceeded those of premature mortality with a predominance of women, while in most provinces, the ages of death were earlier in the male sex. The differences found allowed to group Artemisa, Havana, Mayabeque, Matanzas, Villa Clara, Cienfuegos, Santi Spíritus and Camagüey provincesn with the highest averages of years lost due to morbidity and later deaths, and the rest of the Cuban provinces, with the lowest years lost due to morbidity, but with deaths at younger ages. Conclusions: Losses of years of healthy life differ by sex and province. This knowledge allows the identification of different patterns of morbidity and mortality useful to guide the prevention and control actions of the disease for each territory(AU)

Disability-adjusted Life Years for Diabetes in Cuban Children and Adolescents, 1990-2010.

INTRODUCTION Shifts in diabetes onset to earlier ages, globally and in Cuba, signify greater risk of early complications and premature death, with consequent economic and social repercussions for families and health systems. OBJECTIVE Describe the trend in diabetes burden in Cuban children and adolescents in the period 1990 to 2010, in terms of disability-adjusted life years. METHODS A descriptive epidemiological study was conducted of diabetes burden in Cuba, analyzing the years 1990, 1995, 2000, 2005 and 2010 for the age group 0-19 years. Disability-adjusted life years were obtained from the sum of potential years of life lost plus years lived with disability. The first is calculated based on total deaths in the country in which diabetes was recorded as underlying cause; the second from the product of severity, as assigned to diabetes in similar studies, and incidence and average duration, provided by the DISMOD II program, which estimates six internally consistent epidemiological indicators. RESULTS Mortality indicators improved, with a decrease in the rate of potential years of life lost in boys from 21.9/100,000 population in 1990 to 0 in 2010, and in girls from 38.8/100,000 in 1990 to 4.9/100,000 in 2010 (1% of disability-adjusted life years in girls in 2010, corresponding to one death). In contrast, years lived with disability increased by 134.5% in boys and 156.4% in girls. The net result was that disability-adjusted life years increased by >100% in both sexes (from 137.2 to 321.9/100,000 in boys and from 157.3 to 403.3/100,000 in girls, increases of 102.3% and 108.1%, respectively). CONCLUSIONS Disability-adjusted life years lost for diabetes in Cuban children and adolescents have increased, due to disability, while mortality has decreased. KEYWORDS Diabetes mellitus, childhood, adolescence, disability-adjusted life years, potential years of life lost, years lived with disability, Cuba.

Manifestaciones clínicas predictivas del diagnóstico del hipercortisolismo endógeno / Clinical Manifestations Predicting Endogenous Hypercortisolism

Introducción: El diagnóstico clínico del hipercortisolismo endógeno puede ser complejo si las manifestaciones clínicas no son patognomónicas. Es importante conocer cuáles son las distintivas en nuestros pacientes, que permitan diagnosticar la enfermedad de forma precoz. Objetivo: Determinar sensibilidad, especificidad y valor predictivo positivo de las manifestaciones clínicas para diagnosticar el hipercortisolismo endógeno. Métodos: Estudio descriptivo transversal. Grupo I: 65 pacientes con hipercortisolismo endógeno y grupo II (comparación): 75 con sospecha clínica de hipercortisolismo endógeno a los que se les descartó la enfermedad. Se estudiaron pacientes con diagnóstico de hipercortisolismo endógeno (2004-2017), atendidos en el Instituto de Endocrinología. Se determinaron los valores de sensibilidad, especificidad y valor predictivo positivo para el diagnóstico de hipercortisolismo endógeno de cada síntoma y signo por separado, así como para las combinaciones de tres manifestaciones clínicas; además se realizó una regresión logística binaria para identificar las combinaciones de sintomatologías que mejor predicen la presencia de hipercortisolismo endógeno. Se consideró diferencia estadística significativa con p ≤ 0,05. Resultados: La mayoría de los síntomas presentó una sensibilidad inferior al 45 por ciento. La circunferencia de la cintura fue el único signo que mostró alta sensibilidad (76,9 por ciento), baja especificidad (28,6 por ciento) con valor predictivo positivo de 42,0 por ciento. Cuando se presentan dos o tres de estos signos: rubicundez, cara de "luna llena" e hirsutismo la posibilidad de tener hipercortisolismo endógeno es 75,4 por ciento, con valor predictivo positivo de 71 por ciento y, cuando no están presentes la probabilidad de no tenerlo es de 77,5 por ciento. Conclusiones: La combinación de sensibilidad, especificidad y valor predictivo positivo de los síntomas y signos de forma aislada no predice el diagnóstico de la enfermedad; sin embargo, la presencia de dos o tres de los síntomas y/o signos tiene una elevada sensibilidad y valor predictivo positivo para el diagnóstico del hipercortisolismo endógeno. Las combinaciones que mejor predicen la posibilidad de tener un hipercortisolismo endógeno son: piel fina, edema y acné; cara de "luna llena", hirsutismo y rubicundez, así como "giba de búfalo", hematomas y estrías(AU)

ABSTRACT Introduction: The clinical diagnosis of endogenous hypercortisolism can be complex if clinical manifestations are not pathognomonic. It is important to know what are distinctive in our patients, which allows to diagnose the disease early. Objective: To determine the sensitivity, specificity and positive predictive value of clinical manifestations for diagnosis. of endogenous hypercortisolism. Methods: Descriptive and cross-sectional study. Group I was made up of 65 patients with endogenous hypercortisolism; group II (comparison) was made up of 75 patients with clinical suspicion of endogenous hypercortisolism, finally ruled out. We studied patients diagnosed of endogenous hypercortisolism from 2004 to 2017, treated at the Endocrinology Institute. Sensitivity, specificity and positive predictive values were determined for the diagnosis of endogenous hypercortisolism for each symptom and sign separately, as well as for the combinations of three clinical manifestations; in addition, binary logistic regression was performed to identify the combinations of symptoms that best predict the presence of endogenous hypercortisolism. A statistically significant difference was considered with p ≤ 0.05. Results: Most of the symptoms presented a sensitivity lower than 45 percent. Waist circumference was the only sign that showed high sensitivity (76.9 percent), low specificity (28.6 percent), and positive predictive value of 42.0 percent. When two or three of these signs (redness, "full-moon" face, and hirsutism) are present, the possibility of having endogenous hypercortisolism is 75.4 percent, with positive predictive value of 71 percent; and, when they are not present, the probability of not having it is 77,5 percent. Conclusions: The combination of sensitivity, specificity and positive predictive value of the symptoms and signs in isolation does not predict the diagnosis of the disease; however, the presence of two or three of the symptoms and/or signs has a high sensitivity and positive predictive value for the diagnosis of endogenous hypercortisolism. The combinations that best predict the possibility of having an endogenous hypercortisolism are thin skin, edema and acne; "full-moon" face, hirsutism and redness; as well as "buffalo hump," bruises and stretch marks(AU)

Intensidad del síndrome vasomotor y su relación con la función endotelial en mujeres de edad mediana / Intensity of the vasomotor syndrome and its relation with endothelial function in middle age women

Introducción: El síndrome vasomotor constituye la manifestación clínica más frecuente de la transición menopaúsica y a menudo se asocia con cambios en la función endotelial. Objetivo: Determinar la relación entre la intensidad del síndrome vasomotor y la función endotelial en mujeres de edad mediana aparentemente sanas. Método: Estudio descriptivo transversal, en 133 mujeres de 40-59 años sin factores de riesgo cardiovascular. Se excluyeron aquellas mujeres con menopausia quirúrgica, uso previo de terapia hormonal de reemplazo seis meses antes. Se evaluó la función endotelial mediante la prueba de dilatación mediada por el flujo de la arteria braquial, y la intensidad del síndrome vasomotor mediante la escala de Pérez Piñeiro. Las mujeres fueron distribuidas en dos subgrupos: uno con disfunción endotelial y el otro con función endotelial normal. Para identificar la asociación entre variables se utilizó la prueba Kruskal-Wallis y la prueba Chi Cuadrado para evaluar la significación estadística, considerándose significativos los valores de p < 0,05. Resultados: El 63 por ciento de las mujeres presentaron síndrome vasomotor, 29 de intensidad leve, 31 moderado y muy molesto 33 mujeres. Del total de mujeres, 51 tuvieron disfunción endotelial, para un 38,3 por ciento, mostrando un promedio de dilatación dependiente del endotelio de 1,81±1,57 cm. No se encontró asociación significativa entre la intensidad del síndrome vasomotor y la función endotelial p = 0,139. Conclusiones: La intensidad del síndrome vasomotor no se relacionó con la disfunción endotelial en mujeres de edad mediana. Se necesita ampliar la muestra y realizar estudios prospectivos para identificar el daño vascular en ese grupo de mujeres(AU)

Introduction: The vasomotor syndrome is the most frequent clinical manifestation of the menopausal transition and it is often associated with changes in the endothelial function. Objective: Determine the relation among the intensity of the vasomotor syndrome and the endothelial function in apparently healthy middle age women. Methods: Descriptive cross-sectional study in 113 women of 40-59 years without cardiovascular risk factors. There were excluded women with surgical menopause, and use of replacement hormonal therapy six months before. It was assessed the endothelial function through the dilation test and the flow of the brachial artery, and the intensity of the vasomotor syndrome through the scale of Pérez. The women were organized in two groups: one group of women with endothelial dysfunction and the other of women with normal endothelial function. It was used the Kruskal-Wallis test to identify the association among variables and the chi-Square test to assess the statistical significance considering important the values of p < 0.05. Results: 63 percent of the women presented vasomotor syndrome, 29 of them of slight intensity, 31 moderate and 33 women had a very uncomfortable one. Of the total, 51 women presented endothelial dysfunction representing a 38.3 percent and showing an average of dilation dependant of endothelium of 1.81±1.57 cm. There was not found significant association among the intensity of the vasomotor syndrome and the endothelial function p = 0.139. Conclusions: The intensity of the vasomotor syndrome was not related with the endothelial dysfunction in middle age women. It is needed to expand the sample and to implement prospective studies in order to identify the vascular damage in that group of women(AU)

Enfermedad nodular tiroidea en personas con diagnóstico de acromegalia / Nodular thyroid disease in people diagnosed with acromegaly

La aparición de nódulos tiroideos en las personas con acromegalia es una consecuencia de la elevación crónica de la hormona de crecimiento y el factor de crecimiento similar a la insulina tipo 1. Su naturaleza varía según la zona geográfica, suficiencia de yodo y antecedentes patológicos familiares, entre otros factores. No se han publicado estudios cubanos sobre la enfermedad nodular tiroidea en estas personas. Objetivos: Describir las características clínicas, bioquímicas y ultrasonográficas de la glándula tiroidea, según la presencia o no de la enfermedad nodular tiroidea. Métodos: Estudio observacional descriptivo, transversal, que incluyó 73 pacientes con acromegalia entre enero de 2003 y diciembre de 2017. Se estudiaron las variables: edad, sexo, color de la piel, antecedentes familiares de la enfermedad nodular tiroidea, niveles de la hormona de crecimiento, hormona estimulante del tiroides, T4 libre, anticuerpos contra la peroxidasa tiroidea y contra la tiroglobulina, volumen tiroideo, patrón ecográfico nodular y estudio citológico. Resultados: La enfermedad nodular tiroidea se presentó en el 75,3 por ciento de los casos, con predominio del bocio multinodular. La edad al diagnóstico fue menor en los pacientes con la enfermedad (43,53 ± 9,67), que en los que no la tenían (49,33 ± 6,96 años) (p = 0,02). La hormona de crecimiento al diagnóstico de acromegalia, resultó menor en los pacientes con este padecimiento (18,73 ± 11,33 µg/L vs. 35,91 ± 21,68 µg/L; (p = 0,00). El volumen tiroideo mostró diferencias significativas entre ambos grupos (14,2 ± 4,5 mL en los casos positivos de la enfermedad nodular tiroidea y 10,5 ± 2,8 mL en los casos negativos; p = 0,002), siendo el nódulo de baja sospecha de malignidad el más frecuente. El resto de las variables resultaron similares entre los pacientes con y sin la enfermedad. La citología se informó como benigna en el 75 por ciento en los nódulos únicos, el 80 por ciento de los bocios nodulares y el 90 por ciento de los bocios multinodulares (p = 0,51). Conclusiones: La enfermedad nodular tiroidea fue frecuente en los casos de acromegalia, y se asoció a la menor edad y los niveles inferiores de la hormona de crecimiento al diagnóstico. El bocio multinodular constituyó la forma clínica más frecuente y los parámetros hormonales y de autoinmunidad no se asociaron al tipo de la enfermedad nodular tiroidea(AU)

The appearance of thyroid nodules in people with acromegaly is a consequence of chronic elevation of growth hormone (GH) and insulin-like growth factor type 1 (IGF-1). Its nature varies according to the geographical area, the iodine sufficiency and family pathological history, among other factors. No Cuban studies on thyroid nodular disease (TND) in these people have been published. Objectives: Describe some clinical characteristics, as well as biochemical and ultrasonographic ones related to the thyroid gland, according to the presence or not of TND, and to identify the possible association of clinical, biochemical, ultrasonographic and cytological factors with the different types of TND in patients with acromegaly. Methods: A descriptive, cross-sectional observational study that included 73 patients with acromegaly between January 2003 and December 2017. The following variables were studied: age, sex, skin color, family history of TND, GH levels, thyroid stimulating hormone, free T4, antibodies against thyroid peroxidase and thyroglobulin, thyroid volume, nodular ultrasound pattern and cytological study. Results: TND occurred in 75.3 percent of cases, with a predominance of multinodular goiter. The age at diagnosis time was lower in patients with TND (43.53 ± 9.67) than in those who did not have it (49.33 ± 6.96 years) (p=0.02). GH at diagnosis time of acromegaly was lower in patients with TND (18.73±11.33µg/L vs 35.91±21.68µg/L; (p=0.00). The thyroid volume showed significant differences between both groups (14.2±4.5mL in positive cases of TND and 10.5±2.8mL in negative cases; p=0.002), being the most frequent the nodule with low suspicion of malignancy. The rest of the variables were similar between patients with and without TNDs. Cytology was reported as benign in 75 percent in single nodules, 80 percent of nodular goiters and 90 percent of multinodular goiters (p=0.51). Conclusions: TND was frequent in cases of acromegaly, and was associated with lower age and lower GH levels at diagnosis time. Multinodular goiter was the most frequent clinical form and hormonal and autoimmunity parameters were not associated with the type of TND(AU)

Síndrome coronario agudo y densidad mineral ósea en mujeres en etapa de climaterio / Acute Coronary Syndrome and Bone Mineral Density in Women during their Climacteric Stage

Introducción: Se ha descrito una probable asociación entre la presencia de osteopenia/osteoporosis y el riesgo incrementado de cardiopatía isquémica. Objetivo: Determinar la posible asociación entre la presencia de síndrome coronario agudo y la densidad mineral ósea disminuida, así como la relación de ambas condiciones con algunos factores de riesgo cardiovascular y variables de la esfera reproductiva en mujeres en etapa de climaterio. Método: Se realizó un estudio transversal descriptivo con 72 mujeres (34 con síndrome coronario agudo y 38 sin síndrome coronario agudo), que fueron seleccionadas de bases de datos del Instituto de Cardiología y Cirugía Cardiovascular. La densidad mineral ósea se determinó mediante absorciometría dual de rayos X en columna lumbar. Las pruebas Chi cuadrado y U de Mann Whitney permitieron evaluar la posible relación entre variables. Resultados: El 55,9 por ciento de las pacientes con síndrome coronario agudo y el 60,5 por ciento de las mujeres sin síndrome coronario agudo tenían densidad mineral ósea disminuida. En las mujeres con densidad mineral ósea disminuida (n=42): 81 por ciento presentaron obesidad abdominal, 78,6 por ciento dislipoproteinemia, 83,3 por ciento hipertensión arterial y 76,2 por ciento refirieron el antecedente familiar de cardiopatía isquémica. Conclusiones: En las mujeres en etapa de climaterio estudiadas no se demostró asociación entre la presencia de síndrome coronario agudo y la densidad mineral ósea disminuida. Tampoco existió relación entre la presencia de síndrome coronario agudo y la densidad mineral ósea disminuida con factores de riesgo cardiovascular, ni con las variables de la esfera reproductiva(AU)

Introduction: A probable association has been described between the presence of osteopenia/osteoporosis and the increased risk of ischemic heart disease. Objective: To determine the possible association between the presence of acute coronary syndrome and decreased bone mineral density, as well as the relationship of both conditions with some cardiovascular risk factors and variables of the reproductive sphere in women during the climacteric stage. Method: A descriptive and cross-sectional study was carried out with 72 women (34 with acute coronary syndrome and 38 without acute coronary syndrome), who were selected from databases of the Institute of Cardiology and Cardiovascular Surgery. Bone mineral density was determined by dual lumbar spine X-ray absorptiometry. The chi-square and Mann Whitney U tests allowed to evaluate the possible relationship between variables. Results: 55.9 percent of the patients with acute coronary syndrome and 60.5 percent of the women without acute coronary syndrome had decreased bone mineral density. Among women with decreased bone mineral density (n=42), 81 percent had abdominal obesity, 78.6 percent had dyslipoproteinemia, 83.3 percent had arterial hypertension, and 76.2 percent had a family history of ischemic heart disease. Conclusions: In the women in the climacteric stage studied, no association was shown between the presence of acute coronary syndrome and decreased bone mineral density. There was no relationship either between the presence of acute coronary syndrome and decreased bone mineral density with cardiovascular risk factors, or with variables in the reproductive sphere(AU)

Cambios en los caracteres sexuales secundarios del paciente con disforia de género a consecuencia del tratamiento endocrino en Cuba / Changes in the secondary sexual characteristics of the patient with gender dysphoria as a result of endocrine therapy in Cuba

RESUMEN Introducción: La transexualidad es una incongruencia entre el sexo con el que se nace y el sexo al que se siente pertenecer, por tanto, estas personas desean cambios en su apariencia física que se logran mediante el tratamiento hormonal. Objetivo: Describir los cambios en los caracteres sexuales secundarios en pacientes con disforia de género en Cuba como consecuencia del tratamiento endocrino. Métodos: Se realizó un estudio de revisión de las historias clínicas en 76 pacientes atendidas por disforia de género en los últimos 15 años. Se extrajo la información relacionada con datos sociodemográficos y algunos cambios físicos, como resultado del traamiento hormonal. Para el análisis de los datos se obtuvieron distribuciones de frecuencia de las variables cualitativas, media y desviación estándar de las cuantitativas. Resultados: La mayoría de los pacientes corresponde a transexuales de hombre a mujer (THM). Al año, la mayoría de las personas ya tenían un estadio III o IV de desarrollo mamario (45,3 por ciento de estos tenían estadio III y el 32,3 por ciento estadio IV). Al año de iniciada la atención de los 58 pacientes, 41,4 por ciento tenían un patrón de vello triangular típico del sexo femenino con el que se identifican y a los 2 años ascendió al 80,5 por ciento. Al año se evaluaron 50 por ciento de todos los casos y en ese momento solo 5,1 por ciento mantenían un vello facial intenso y más de la mitad (56,8 por ciento), ya no tenían. Al inicio, la media del volumen testicular fue de 17,4 ml, a los 3 meses fue de 15,7 ml, a los 6 meses 14,3 ml y 9,7 ml al año. Conclusiones: Los pacientes con disforia de género en la mayoría de los casos logran cambios en los caracteres sexuales secundarios acordes al sexo con que se identifican(AU)

ABSTRACT Introduction: Transsexualism is an inconsistency between the sex with which someone was born and the sex he or she feels belong to; therefore, these subjects want to do changes in their physical appearance that are achieved through hormonal treatment. Objective: To describe changes in the secondary sexual characteristics in patients with gender dysphoria in Cuba as a result of endocrine therapy. Methods: A study was conducted to review the clinical records in 76 patients treated by gender dysphoria in the past 15 years. It was collected the information related to socio-demographic data and some physical changes as a result of the hormonal therapy. For data analysis were obtained frequency distributions of the qualitative variables, the mean and the standard deviation of the quantitative ones. Results: The majority of patients correspond to male to female transsexuals (THM, by its acronym in Spanish). A year after, the majority of the patients already studied had a stage III or stage IV of breast development (45.3 percent) of these had stage III and 32.3 percent had stage IV). A year after the start of the attention of the 58 patients, 41.4 percent had a pattern of triangular hair typical of the female sex which they feel identified with and after 2 years it increased to 80.5 percent. After a year, there were evaluated 50 percent of all cases and at that time only 5.1 percent maintained intense facial hair, and more than half (56.8 percent) had no facial hair. At the beginning, the mean of testicular volume was 17.4 mL, after 3 months it was 15.7 mL, after 6 months was 14.3 mL and 9.7 mL after a year. Conclusions: Patients with gender dysphoria in most cases achieve changes in the secondary sexual characteristics in accordance with the sex which they feel identified with(AU)

Masa ósea y tratamiento esteroideo en pacientes con hiperplasia suprarrenal congénita / Bone mass and steroid treatment in patients with congenital adrenal hyperplasia

Introducción: La terapia de reemplazo con glucocorticoides sigue siendo el paradigma de tratamiento en las formas clásicas de la hiperplasia suprarrenal congénita. Sus efectos sobre la mineralización ósea no están totalmente claros. Objetivo: Describir las variables relacionadas con la masa ósea en pacientes con HSC que reciben tratamiento esteroideo sustitutivo. Método: Se realizó un estudio descriptivo transversal que exploró variables clínicas, bioquímicas, hormonales y de mineralización óseaen 25 pacientes con hiperplasia suprarrenal congénita por déficit de 21OHasa y tratamiento esteroideo. Resultados: 21 (84,0 por ciento) femeninas, el mayor grupo correspondió a los adolescentes entre 10 y 19 años (52 por ciento). Predominaron las formas clásicas con 22 pacientes (88,0 por ciento), de ellas 13 (52 por ciento) fueron perdedoras de sal, 9 virilizantes simples (36,0 por ciento) y solo 3 (12,0 por ciento) formas no clásicas. El esteroide más utilizado fue la hidrocortisona en 16 pacientes (64 por ciento), a una dosis media de 22,10±12,00 mg diarios, correspondiendo con 17,09±5,71 mg/m2sc/día y como promedio llevaban 14,02±6,57 años de terapéutica sustitutiva. No se detectaron alteraciones del metabolismo fosfocálcico. La densidad y el contenido mineral óseo en columna y en fémur mostraron valores superiores en las formas no clásicas de la enfermedad, seguidos de la virilizante simple y finalmente los pacientes perdedores de sal, en ninguno de los casos con significación estadística. Conclusiones: Los pacientes con hiperplasia suprarrenal congénita del presente estudio mostraron en su mayoría una masa ósea conservada(AU)

Introduction: Glucocorticoid replacement therapy is still the treatment´s paradigm in the classic forms of congenital adrenal hyperplasia. Its effects on bone mineralization are not entirely clear. Objective: Describe bone mass-related variables in congenital adrenal hyperplasia patients receiving substitute steroid treatment. Method: A cross-sectional descriptive study was conducted exploring clinical, biochemical, hormonal and bone mineralization variables in 25 patients with congenital adrenal hyperplasia caused by 21OHase deficiency and steroid treatments. Results: 21 women (84.0 percent); the largest group was of adolescents between the age of 10 and 19 years (52 percent).Classical forms predominated with 22 patients (88.0 percent), including 13 of them (52 percent) that were salt losers, 9 simple virilizers (36.0 percent) and only 3 (12.0 percent) of non-classical forms. The most commonly used steroid was hydrocortisone in 16 patients (64 percent), at an average dose of 22.10±12.00 mg daily, corresponding to 17.09±5.71 mg/m2sc/day and on average carried 14.02±6.57 years of substitute therapy. No alterations in the phosphocalcic metabolism were detected. Density and bone mineral content in the spinal column and femur showed higher values in non-classical forms of the disease, followed by simple virilizing and finally the salt loser patients, in none of the cases with statistical significance. Conclusions: Patients with congenital adrenal hyperplasia in this study showed mostly preserved bone mass(AU)

Obesidad abdominal y perfil lipídico en pacientes con hiperplasia suprarrenal congénita por déficit de 21 hidroxilasa / Abdominal Obesity and Lipid Profile in Patients with 21-Hydroxylase-Deficient Congenital Suprarenal Hyperplasia

RESUMEN Introducción: Existen discrepancias en relación con el aumento de la adiposidad abdominal de los pacientes con hiperplasia suprarrenal congénita (HSC) y la influencia sobre ella de factores clínicos, hormonales y relacionados con la dosis y el tiempo de uso del tratamiento esteroideo. Objetivo: Describir la relación entre la obesidad abdominal, la dosis, el tiempo de tratamiento esteroideo los niveles de andrógenos circulantes y el perfil lipídico en los pacientes tratados por este padecimiento. Métodos: Estudio descriptivo, transversal, que incluyó a todos los niños y adolescentes con hiperplasia suprarrenal congénita por déficit de 21 hidroxilasa que recibían tratamiento esteroideo sustitutivo, atendidos en el departamento de endocrinología pediátrica del Instituto Nacional de Endocrinología durante el periodo 2000-2015. Se estudiaron variables clínicas, bioquímicas y hormonales. Para las variables cualitativas se calcularon frecuencias absolutas y porcentajes, media y desviación estándar para las variables cuantitativas. Se evaluaron asociaciones utilizando el coeficiente de correlación de Spearman y la prueba chi cuadrado para evaluar la significación estadística de la posible asociación, considerada cuando p < 0,05. Resultados: Fueron estudiados 29 pacientes, 24 (82,8 por ciento) con sexo social femenino, una edad promedio de 10,9 ± 6,27 años, edad al diagnóstico de 1,9 años ± 2,7 años y edad de inicio del tratamiento 2,03 ± 2,7 años. Las formas clásicas predominaron con 23 pacientes (79,3 por ciento), 11 perdedoras de sal (47,8 por ciento) y 12 formas virilizantes simples, solo 6 correspondieron a las formas no clásicas (20,7 por ciento). En los tres grupos se comprobó adiposidad abdominal incrementada según el índice abdomen/talla (0,52 vs. 0,51 vs. 0,51). La utilización de mayores dosis de esteroides se correlacionó de manera positiva con mayor circunferencia de cintura (p < 0,05) y abdomen (p < 0.01). En 13 (44,8 por ciento) pacientes se comprobó obesidad abdominal y el perfil lipídico mostró valores normales en todos los casos estudiados. Conclusiones: La obesidad abdominal constituye un signo frecuente en los pacientes con HSC. Es preciso monitorear con precisión las dosis de esteroides empleadas, establecer estrategias de seguimiento más completas y estimular estilos de vida saludables, lo que redundará a largo plazo en menores consecuencias cardiometabólicas(AU)

ABSTRACT Introduction: Some disagreement exists concerning the increase in abdominal adiposity in patients with congenital adrenal hyperplasia and the influence of clinical, hormonal and dose-related factors and the time of steroid treatment use. Objective: To identify the presence of abdominal obesity and its relationship with the dose and time of steroid treatment, as well as with the levels of circulating androgens, and describe the lipid profile of these patients. Methods: Cross-sectional and descriptive study that included all the children and adolescents with 21-hydroxylase-deficient congenital adrenal hyperplasia and who received steroid replacement treatment, treated at the pediatric endocrinology department of the National Institute of Endocrinology, in the period 2000-2015. Clinical, biochemical and hormonal variables were studied. For the qualitative variables, absolute frequencies and percentages; mean and standard deviations were calculated for the quantitative variables. Associations were evaluated using the Spearman correlation coefficient. The chi-square test was used to evaluate the statistical significance of the possible association, considered when p < 0.05. Results: Twenty-nine patients were studied: 24 (82.8 percent) with female social sex, an average age of 10.9 ± 6.27 years, age of diagnosis at 1.9 ± 2.7 years, and age of treatment beginning at 2.03 ± 2.7 years. The classical forms predominated in 23 patients (79.3 percent): 11 salt losers (47.8 percent) and 12 simple virializing forms; only six corresponded to non-classical forms (20.7 percent). In the three groups, increased abdominal adiposity was found, according to abdomen/height index (0.52 vs. 0.51 vs. 0.51). The use of higher doses of steroids was correlated positively with greater circumference of waist (p < 0.05) and abdomen (p < 0.01). In 13 (44.8 percent) patients, abdominal obesity was found, while the lipid profile showed normal values in all the cases studied. Conclusions: Abdominal obesity is a frequent sign in patients with congenital adrenal hyperplasia. It is necessary to monitor accurately the doses of steroids used, establish more comprehensive follow-up strategies, and encourage healthy lifestyles, which will result in fewer long-term cardiometabolic consequences(AU)

Pubertad en pacientes con hiperplasia adrenal congénita por déficit de 21hidroxilasa y asignación femenina / Puberty in patients with congenital adrenal hyperplasia due to a 21-hydroxylase deficit and female assignment

RESUMEN Introducción: En la hiperplasia adrenal congénita el aumento de los niveles de andrógenos suprarrenales en las pacientes no tratadas o mal controladas, puede alterar el inicio y/o la progresión puberal (progresión puberal/progresiones puberales?). Objetivos: Describir las características puberales de pacientes con hiperplasia adrenal congénita asignadas como femeninas e identificar si existe asociación entre elementos relacionados con la enfermedad y el inicio y progresión puberales. Métodos: Se incluyeron todas las pacientes con diagnóstico de hiperplasia adrenal congénita asignadas como femeninas, que fueron atendidas en el INEN de enero 2000 a mayo 2019. Resultados: Fueron estudiadas 47 pacientes, con una media de edad de 14,76 ± 7,04 años. Se comprobó un predominio de las formas clínicas clásicas en 25 pacientes (53,19 por ciento), de ellas 11 (23,40 por ciento) fueron formas virilizantes simples, 14 (29,78 por ciento) perdedoras de sal y 22 (46,80 por ciento) formas no clásicas. El inicio del vello pubiano fue a una edad promedio de 7,78 ± 3,2 años. El comienzo de la telarquia resultó en una media de 10,09 ± 2,4 años y la menarquia a los 12,2 ± 2,3 años como promedio. De las 29 pacientes que ya habían menstruado 16 (55,2 por ciento) presentaban irregularidades menstruales. El tiempo entre el inicio puberal y la menarquia fue de 3,4 años en las formas no clásicas, 5,6 años en las perdedoras de sal y 7,0 años en las virilizantes simples. La edad al diagnóstico, la edad de inicio del tratamiento y la dosis de esteroides empleada se relacionaron con algunos aspectos puberales. Conclusiones: El diagnóstico oportuno y el ajuste cuidadoso del esquema esteroideo, constituyen pilares importantes en el inicio y progresión puberales, y en la consecución de ciclos ovulatorios regulares que aseguren desde la adolescencia, un inicio y desarrollo puberales normales y en edades reproductivas, la optimización de la fertilidad(AU)

ABSTRACT Introduction: In the congenital adrenal hyperplasia, the increased levels of adrenal androgens in patients untreated or poorly controlled can alter the start and/or pubertal progression (pubertal progression/pubertal progressions). Objectives: To describe the pubertal characteristics of patients with congenital adrenal hyperplasia assigned as females and to identify whether there is an association between elements related to the disease and the pubertal onset and progression. Methods: There were included all patients diagnosed with congenital adrenal hyperplasia assigned as females that were attended at the National Institute of Endocrinology from January 2000 to May 2019. Results: 47 patients were studied, with an average age of 14.76 ± 7.04 years. It was found a predominance of classic clinical forms in 25 patients (53.19 percent, of which 11 (23.40 percent) had simple virilization forms, 14 (29.78 percent) were salt-losers and 22 (46.80 percent) had non-classical forms. The onset of the pubic hair was at an average age of 7.78 ± 3.2 years. The beginning of the thelarche resulted in an average of 10.09 ± 2.4 years and menarche at the 12.2 ± 2.3 years on average. Of the 29 patients who had menstruated, 16 (55.2 percent) presented menstrual irregularities. The time between the puberty onset and menarche was 3.4 years in the non-classical forms, 5.6 years in the salt-losers, and 7.0 years in the simple virilizations. The age at initial diagnosis treatment and the dose of steroids used were related to some pubertal aspects. Conclusions: Early diagnosis and careful adjustment of the steroid scheme are important pillars in the pubertal onset and progression, the achievement of regular ovulatory cycles, and with it, in the optimization of fertility(AU)

Salud sexual y reproductiva en pacientes con hiperplasia adrenal congénita asignadas como femeninas / The Reproductive Future of Female-Assigned Patients with Congenital Adrenal Hyperplasia

RESUMEN Introducción: Si bien en la mujer con hiperplasia adrenal congénita la consecución de una función gonadal y fertilidad normales requiere de una adhesión estricta al tratamiento sustitutivo, no siempre esto es suficiente y, desde la adolescencia, aparece algún grado de hiperandrogenismo ovárico que influye de manera negativa. Objetivos: Describir algunos aspectos relacionados con la sexualidad, la salud sexual y reproductiva en pacientes con hiperplasia adrenal congénita asignadas como femeninas. Métodos: Se realizó un estudio descriptivo transversal y observacional, que incluyó todas las pacientes con diagnóstico de hiperplasia adrenal congénita asignadas como femeninas, que fueron atendidas en el Instituto Nacional de Endocrinología durante el periodo 2000-2019. Exploró aspectos demográficos, historia familiar y aspectos relacionados con la salud sexual y reproductiva. Resultados: La muestra quedó constituida por 47 pacientes, con una media de edad actual de 14,76 ± 7,04 años y una edad promedio de inicio del tratamiento de 5,9 años. Se comprobó un predominio de las formas clínicas clásicas en 25 pacientes (53,19 por ciento), y 22 (46,80 por ciento) formas no clásicas. Presentaron algún grado de virilización genital 22 pacientes, de este grupo 14 (68,1 por ciento) habían recibido cirugía genital, 5(10,6 por ciento) clitoroplastia con una media de edad 2,8 ± 0,8 años y 9 (19,1 por ciento) combinado con vaginoplastia. De las 36 pacientes en edad reproductiva, 11 (37,9 por ciento) refirieron haber iniciado relaciones sexuales a los 17,8 ± 3,9 años, como promedio. Conclusiones: Es importante considerar que la subfertilidad de las mujeres con hiperplasia adrenal congénita tiene su origen desde los años peripuberales, por lo que debe ser de interés permanente del endocrinólogo pediatra para mejorar su futuro reproductivo(AU)

ABSTRACT Introduction: Although in women with congenital adrenal hyperplasia, the achievement of normal gonadal function and fertility requires strict adherence to substitution treatment, this is not always sufficient and some degree of ovarian hyperandrogenism appears with a negative effect, which is evident since adolescence. Objective: To characterize some factors related to sexual and reproductive health in patients with congenital adrenal hyperplasia and assigned as female. Methods: A cross-sectional and observational-descriptive study was carried out, including all female-assigned patients with a diagnosis of congenital adrenal hyperplasia and who were treated at the Institute of Endocrinology from 2000 to 2019. The study explored demographic aspects, family history, as well as aspects related to sexual and reproductive health Results: The sample was made up of 47 patients, with current mean age of 14.76 ± 7.04 years and average age for starting treatment of 5.9 years. Predominance of classic clinical forms was verified in 25 patients (53.19 percent), while 22 patients (46.80 percent) presented nonclassical forms. Some degree of genital virilization manifested in 22 patients; of this group, 13 (59.1 percent) had received genital surgery, four (8.5 percent) received clitoroplasty at mean age of 2.8 ± 0.8 years, and nine (19, 1 percent) received an approach combined with vaginoplasty. Of the 36 patients at reproductive age, 11 (37.9 percent) reported having started sexual intercourse relations at an average age of 17.8 ± 3.9 years old. Conclusions: It is important to consider that subfertility of women with congenital adrenal hyperplasia starts in the peripubertal years, a reason why it should be of permanent interest to the pediatric endocrinologist in order to improve their reproductive future(AU)