ABSTRACT
Resumo Fundamento: A deficiência de testosterona (DT) é uma condição prevalente em nosso meio e ainda muito negligenciada. A hipertensão arterial (HA) é um de seus possíveis fatores associados. Objetivos: Determinar a prevalência de DT em uma população masculina hipertensa e os fatores associados à sua ocorrência, como idade, tempo de diagnóstico de HA, número de classes de anti-hipertensivos, índice de massa corporal (IMC), diabetes, dislipidemia, doença renal crônica (DRC), sintomas positivos de DT (questionário ADAM positivo) e uso de espironolactona. Métodos: Estudo transversal com aplicação do questionário ADAM, e avaliação de dados bioquímicos, clínicos e antropométricos. Os pacientes foram estratificados em grupos de DT e testosterona normal. As variáveis categóricas foram comparadas pelo teste do qui-quadrado e as variáveis contínuas pelo teste de Mann-Witney; as variáveis com significância (p<0,05) foram submetidas à regressão linear multivariada. Resultados: A prevalência de DT foi de 26,8%. Houve associação entre DT e IMC (p=0,0007), mas não houve com idade (p=0,0520), tempo de diagnóstico de HA (p=0,1418), número de classes de anti-hipertensivos (p=0,0732), diabetes (p=0,1112); dislipidemia (p=0,3888); presença de DRC (p=0,3321); uso de espironolactona (p=0,3546) e questionário ADAM positivo (p=0,2483). Conclusões: A prevalência de DT foi alta e houve associação positiva com IMC. A testosterona total (TT) declinou 8,44 ng/dL com o aumento de 1 kg/m2 no IMC e caiu 3,79 ng/dL com o avanço em um ano na idade.
Abstract Background: Testosterone deficiency (TD) is a prevalent condition in our midst and still very neglected. Arterial hypertension (AH) is one of the possible associated factors. Objectives: To determine the prevalence of TD in a hypertensive male population and the factors associated with its occurrence, such as age, time since hypertension diagnosis, number of antihypertensive classes, body mass index (BMI), diabetes, dyslipidemia, chronic kidney disease (CKD), positive symptoms of TD (positive ADAM questionnaire) and use of spironolactone. Methods: Cross-sectional study with administration of the ADAM questionnaire, assessment of biochemical, clinical, and anthropometric data. Patients were stratified into DT and normal testosterone groups. Categorical variables were compared using the chi-squared test and continuous variables using the Mann-Witney test; variables with significance (p<0,05) were analyzed by multivariable linear regression. Results: The prevalence of TD was 26.36%. There was an association between TD and body mass index (BMI) (p=0.0007) but there was no association with age (p=0.0520), time of hypertension diagnosis (p=0.1418), number of classes of antihypertensive drugs (p=0.732), diabetes (p=0.1112); dyslipidemia (p=0.3888); CKD (p=0.3321); use of spironolactone (p=0.3546) or positive ADAM questionnaire (p=0.2483). Conclusions: TD was highly prevalent and positively associated with BMI. Total testosterone (TT) declined by 8.44ng/dL with a one unit increase in BMI and dropped by 3.79ng/dL with a one-year increase in age.
ABSTRACT
Abstract Objective: To evaluate hypothalamic-pi- tuitary-gonadal (HPG) axis alterations at 1 and 12 months after kidney transplan- tation (KT) and their association with in- sulin resistance. Methods: A retrospective clinical study was conducted in a tertiary care center in kidney transplantation recipients (KTRs) aged 18- 50 years with primary kidney disease and stable renal graft function. LH, FSH, E2/T, and HOMA-IR were assessed at 1 and 12 months after KT. Results: Twenty-five KTRs were included; 53% were men, and the mean age was 30.6±7.7 years. BMI was 22.3 (20.4-24.6) kg/m2, and 36% had hypogonadism at 1 month vs 8% at 12 months (p=0.001). Re- mission of hypogonadism was observed in all men, while in women, hypogonadotropic hypogonadism persisted in two KTRs at 12 months. A positive correlation between go- nadotrophins and age at 1 and 12 months was evident. Fifty-six percent of patients had insulin resistance (IR) at 1 month and 36% at 12 months (p=0.256). HOMA-IR showed a negative correlation with E2 (r=- 0.60; p=0.050) and T (r=-0.709; p=0.049) at 1 month, with no correlation at 12 months. HOMA-IR at 12 months after KT correlated positively with BMI (r=0.52; p=0.011) and tacrolimus dose (r=0.53; p=0.016). Conclusion: Successful KT restores the HPG axis in the first year. Hypogonadism had a negative correlation with IR in the early pe- riod after KT, but it was not significant at 12 months.
Resumo Objetivo: Avaliar as alterações do eixo hipotálamo-hipófise-gonadal (HHG) em 1 e 12 meses após transplante renal (TR) e sua associação com a resistência à insulina. Métodos: Foi realizado um estudo clínico retrospectivo em um centro de cuidados terciários em receptores de transplante renal (RTR) com idade entre 18-50 anos com doença renal primária e função do enxerto renal estável. LH, FSH, E2/T e HOMA-IR foram avaliados em 1 e 12 meses após o TR. Resultados: foram incluídos 25 RTR; 53% eram homens e a média de idade foi de 30,6±7,7 anos. O IMC foi de 22,3 (20,4-24,6) kg/m2 e 36% apresentaram hipogonadismo em 1 mês vs 8% aos 12 meses (p=0,001). A remissão do hipogonadismo foi observada em todos os homens, enquanto nas mulheres, o hipogonadismo hipogonadotrófico persistiu em dois RTR aos 12 meses. Ficou evidente uma correlação positiva entre gonadotrofinas e idade em 1 e 12 meses. Cinquenta e seis por cento dos pacientes apresentaram resistência à insulina (RI) em 1 mês e 36% aos 12 meses (p=0,256). O HOMA-IR mostrou uma correlação negativa com E2 (r=-0,60; p=0,050) e T (r=-0,709; p=0,049) em 1 mês, sem correlação em 12 meses. O HOMA-IR aos 12 meses após TR correlacionou-se positivamente com o IMC (r=0,52; p=0,011) e a dose de tacrolimus (r=0,53; p=0,016). Conclusão: O TR bem-sucedido restaura o eixo HHG no primeiro ano. O hipogonadismo apresentou uma correlação negativa com a RI no período inicial após o TR, mas essa correlação não foi significativa aos 12 meses.
ABSTRACT
Los prolactinomas son los tumores funcionantes de hipófisis más frecuentes. Se clasifican según su tamaño en microprolactinomas (menores a 1 cm) y macroprolactinomas (mayor o igual a 1 cm). Estos últimos tienen mayor frecuencia en hombres y en general se diagnostican más tardíamente, cuando aparecen síntomas compresivos. La hiperprolactinemia interfiere con la secreción pulsátil de la hormona liberadora de gonadotropinas (GnRH), lo que genera la inhibición de secreción de hormona luteinizante (LH) y de hormona foliculoestimulante (FSH), y en consecuencia produce hipogonadismo hipogonadotrófico. El presente artículo reporta un caso clínico de un paciente de 26 años, de sexo masculino, en el que se realiza el diagnóstico de hipogonadismo hipogonadotrófico secundario a un macroprolactinoma, en el contexto de una pubertad detenida.
Prolactinomas are the most common functioning pituitary tumors. According to size, they are classified into microprolactinomas (smaller than 1 cm) and macroprolactinomas (larger than or equal to 1 cm). The latter are more frequent among men and in general of late diagnosis upon compressive symptoms. Hyperprolactinemia interferes with the pulsatile secretion of the gonadotrophin releasing hormone (GnRH)) what results in inhibition of the secretion of luteinizing hormone (LH) and follicle-stimulating hormone (FSH), what consequently produces hypogonadotrophic hypogonadism. The study reports the clinical case of a 26-year-old male who was diagnosed with hypogonadotrophic hypogonadism secondary to macroprolactinoma, within the context of detained puberty.
Os prolactinomas são os tumores hipofisários funcionantes mais comuns. São classificados de acordo com seu tamanho em microprolactinomas (menos de 1 cm) e macroprolactinomas (maior ou igual a 1 cm). Estas últimas são mais frequentes em homens e geralmente são diagnosticadas mais tarde, quando aparecem sintomas compressivos. A hiperprolactinemia interfere na secreção pulsátil do hormônio liberador de gonadotropina (GnRH), levando à inibição da secreção do hormônio luteinizante (LH) e do hormônio folículo-estimulante (FSH) e, consequentemente, hipogonadismo hipogonadotrófico. Este artigo relata o caso clínico de um paciente do sexo masculino de 26 anos, no qual é feito o diagnóstico de hipogonadismo hipogonadotrófico secundário a um macroprolactinoma, no contexto de puberdade interrompida.
Subject(s)
Puberty, Delayed , Prolactinoma , HypogonadismABSTRACT
Resumen Introducción: Los trastornos andrológicos son frecuentes en varones con diabetes tipo 2. El objetivo fue evaluar si los médicos que atienden a personas con diabetes tipo 2 abordan problemas andro lógicos como disfunción sexual eréctil, disminución de libido y síntomas de hipogonadismo. Métodos: Se llevó a cabo una encuesta anónima a 171 médicos, de ellos 113 fueron mujeres (66.1%) con una edad media de 46 ± 10 años (mujeres: 45 ± 10 y varones: 49 ± 10, p = 0.006). Resultados: No hubo diferencias en las res puestas según el género. El 44.4% (n = 76) y el 55.6% (n = 95) no preguntan sobre la presencia de disfunción sexual eréctil y/o disminución de libido, respectivamente. El 50.9% (n = 87) no solicitó medición de testosterona en pacientes con síntomas de hipogonadismo. El 65.8% de los participantes respondió que el reemplazo con testosterona puede mejorar el perfil metabólico de la diabetes mellitus tipo 2 y los síntomas sexuales. El 74.7% de los encuestados afirmó que la medición de testosterona debería realizarse ante la presencia de síntomas compatibles con hipogonadismo. El 63.2% (n = 108) mostró interés en formación sobre temas relacionados a diabetes tipo 2 y trastornos de la esfera sexual. Conclusión: Un gran porcentaje de médicos que asisten a varones con diabetes tipo 2 no indaga sobre trastornos andrológicos. Es necesario concientizar y entrenar a los médicos, para detectar, tratar y/o derivar estos problemas de salud tan frecuentes, no solo para mejorar la calidad de vida de los pacientes sino para responder y prevenir efectivamente a un problema mayor de salud.
Abstract Introduction: Our objective was to assess whether physicians who care for people with type 2 dia betes address andrological symptoms such as erectile sexual dysfunction, decreased libido, and symptoms and/ or signs of hypogonadism. Methods: An anonymous survey was carried out with 171 doctors, 113 were females (66.1%), the mean age was 46 ± 10 years (females: 45 ± 10 and males: 49 ± 10, p = 0.006). Results: There were no differences in responses according to gender. Regarding the presence of erectile sexual dysfunction and/or decreased libido, 44.4% (n = 76) and 55.6% (n = 95) did not ask about them, respectively. In patients with symptoms of hypogonadism, 50.9% (n = 87) did not request a testosterone measurement. Regarding the improvement of the metabolic profile of type 2 diabetes mellitus and sexual symptoms after replacement with testosterone, 65.8% of the respondents answered that both conditions could improve after treatment. In the presence of symptoms compatible with hypogonadism, 74.7% of those surveyed stated that the measurement of testosterone should be performed. A total of 108 (63.2%) showed interest in being trained on topics related to type 2 diabetes and disorders of the sexual sphere. Conclusion: A large percentage of physicians who take care of men with type 2 diabetes do not inquire about andrological disorders. It is necessary to raise awareness and train doctors to detect, treat and/or refer these frequent health problems, not only to improve the quality of life of patients but also to effectively respond and prevent a major health problem.
ABSTRACT
Background: Some studies indicated that body mass index (BMI) is inversely proportional to serum testosterone concentrations in men. Purposes: This study aimed to analyze the effects of aging and obesity on total testosterone (TT), free testosterone (FT), bioavailable testosterone (BT), luteinizing hormone (LH), and sex hormone-binding globulin (SHBG) levels. Methods: A cross-sectional study was performed to assess the clinical and laboratory profiles of 701 patients treated at a private urology clinic in Ponta Grossa, Brazil, from January 2016 to December 2018. Results: Patients' age ranged from 16 to 88 years (mean, 56.9 ± 13.62 years). Age did not significantly influence serum TT concentrations, except compared to patients aged >70 years. However, changes were observed in FT and BT (p < 0.05). The mean SHBG increased with age (p < 0.05). A tendency toward LH elevation was observed in older patients, but it was not statistically significant. An inverse proportional relationship between TT, FT, and BT and the testosterone deficiency rate (TT < 300 ng/dL) was observed within BMI groups (p < 0.05). The testosterone deficiency rate was 21.5% in individuals with normal BMI, 29% in overweight individuals, and 37% in obese individuals. Conclusions: Aging affected the testosterone concentrations in men and became increasingly evident using FT and BT instead of TT. SHBG increased with age. Obesity was associated with a decrease in TT, FT, and BT but also increased the rate of hypogonadism. (AU)
Fundamentos: Alguns estudos indicam que o índice de massa corporal (IMC) é inversamente proporcional à con-centração de testosterona sérica em homens. Objetivos: O objetivo deste estudo é analisar o efeito do envelhe-cimento e da obesidade na testosterona biodisponível total e livre, bem como nos níveis de hormônio luteinizante e globulina ligadora de hormônio sexual. Métodos: Foi realizado um estudo transversal abordando o perfil clínico e laboratorial de 701 pacientes atendidos em uma clínica privada de urologia em Ponta Grossa, Brasil, de janei-ro de 2016 a dezembro de 2018. Resultados: A idade dos pacientes variou de 16 a 88 anos (média de 56,9 ± 13,62 anos). A idade não influenciou significativamente as concentrações séricas de testosterona total, exceto quando comparada a pacientes com mais de 70 anos. No entanto, foi observada diferença na testosterona livre e biodisponível (p <0,05). A média de globulina de ligação aos hormônios sexuais aumentou com a idade (p <0,05). Embora uma tendência à elevação da luteinização tenha sido observada em pacientes mais idosos, ela não foi significativa. Relação inversa entre testosterona total, livre e biodisponível e taxa de deficiência de testosterona (testosterona total <300 ng / dL) foi observada dentro dos grupos de índice de massa corporal (p <0,05). A taxa de deficiência de testosterona em indivíduos com índice de massa corporal normal foi de 21,5%, indivíduos com sobre-peso foi de 29% e em indivíduos com obesidade foi de 37%. Conclusões: O envelhecimento afetou a concentração de testosterona em homens, mais evidente ao avaliar testosterona livre e biodisponível em vez de testosterona total. A globulina de ligação aos hormônios sexuais aumentou com a idade. A obesidade foi associada à redução da testosterona total, livre e biodisponível e ao aumento da taxa de hipogonadismo. (AU)
Subject(s)
Humans , Male , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Aging , Sex Hormone-Binding Globulin , Luteinizing Hormone , Body Mass Index , Cross-Sectional Studies , HypogonadismABSTRACT
ABSTRACT We report a 27 -year-old male referred because of hypergonadotropic hypogonadism with low testosterone and azoospermia. At 23 years of age, he underwent an excision of a hypoechoic 0.7 cm nodule of the left testicle. The pathological diagnosis was a Leydig cell tumor. In the right testicle, there were three nodules at ultrasound, the biggest measuring 0.6 cm. Four years later, the nodules in the right testicle were still present and the larger nodule was excised. The biopsy showed tubules with only Sertoli cells in the perinodular zone. Diffuse and nodular hyperplasia of the Leydig cells was found in the interstitium. The pathological diagnosis was Sertoli syndrome with severe hyperplasia of the Leydig cells. With testosterone therapy, LH decreased, and the nodules disappeared. Thereafter, upon interrupting therapy, LH increased, and the nodules reappeared in two occasions. Resuming testosterone treatment, the nodules disappeared again, suggesting a Leydig cell hyperplasia dependent on chronic LH stimulation.
Presentamos un varón de 27 años referido por hipogonadismo hipergonadotrófico con testosterona baja y azoospermia. El paciente tenía el antecedente de un nódulo sólido hipoecogénico de 0,7 cm en el testículo izquierdo, extirpado los 23 años de edad en el año 2002 y diagnosticado patológicamente como tumor de células de Leydig. En ese año se encontraron tres nódulos en el testículo derecho por ultrasonografía, el mayor de 0,6 cm. Cuatro años después, en 2007, los micronódulos del testículo derecho seguían presentes. El mayor de ellos fue extirpado. En la biopsia, había túbulos con solo células de Sertoli en la zona perinodular. En el intersticio había hiperplasia difusa y nodular de las células de Leydig. El diagnóstico patológico fue un síndrome de Sertoli con severa hiperplasia de células de Leydig. La terapia con testosterona disminuyó la LH y los nódulos inesperadamente desaparecieron. En dos ocasiones, al interrumpir esta terapia, la LH aumentó y los nódulos reaparecieron. Este proceso revirtió nuevamente con el uso de testosterona, sugiriendo una hiperplasia de células de Leydig dependiente del estímulo crónico de LH.
Subject(s)
Humans , Male , Adult , Testosterone/therapeutic use , Testosterone/pharmacology , Hypogonadism/pathology , Hypogonadism/drug therapy , Sertoli Cells/pathology , Hyperplasia/pathology , Leydig Cells/pathologyABSTRACT
RESUMEN Objetivos: describir un caso de falla ovárica secundaria a una variante patogénica homocigota en el gen STAG3 no reportada previamente. Materiales y métodos: paciente de 16 años con amenorrea primaria y ausencia de características sexuales secundarias, en quien se documentó hipotiroidismo autoinmune, pobre desarrollo genital y cintilla gonadal, por lo cual se realizó secuenciación de exorna clínico. Se identificó una variante homocigota patogénica previamente no reportada en el gen STAG3, el cual ha sido relacionado con insuficiencia ovárica prematura (IOP). Conclusiones: en este caso, la realización de exorna clínico fue determinante para identificar una alteración del gen STAG, probablemente asociada a la IOP y el pronóstico a largo plazo de la paciente. Se establece una nueva variante patogénica c.2773delT; p.Ser925Profs*6 del gen STAG3 asociada a la IOP.
ABSTRACT Objectives: To describe a case of ovarian failure secondary to a homozygous pathogenic variant in the STAG3 gene not previously reported. Material and methods: A 16-year-old patient with primary amenorrhea and absence of secondary sexual characteristics, with documented autoimmune hypothyroidism, poor genital and gonadal streak development which prompted the performance of clinical exorne sequencing. A homozygous pathogenic variant not previously reported in the STAG3 gene, which has been associated with premature ovarian insufficiency (POI), was identified. Conclusions: In this case, clinical exorne sequencing was key for identifying a STAG gene abnormality, probably associated with POI and long term prognosis for the patient. A new pathogenic variant c.2773delT; p.Ser925Profs*6 of the STAG3 gene associated with POI was established.
Subject(s)
Humans , Female , Adolescent , Primary Ovarian Insufficiency , Gonadal Dysgenesis , HypogonadismABSTRACT
La ginecomastia es el crecimiento mamario benigno en el varón. Etiológicamente se clasifica en fisiológica y patológica. La ginecomastia fisiológica se presenta frecuentemente en ciertos periodos de la vida, como la época neonatal, puberal y senil. La patológica se asocia a múltiples factores, incluyendo los hormonales, los de origen tumoral, y al uso de ciertos medicamentos, entre otros; sin embargo, en muchos pacientes no se consigue identificar nunca la causa. La historia clínica y el examen físico son los pilares fundamentales que permiten orientar hacia la etiología, con el apoyo de pruebas de laboratorio e imagenología que permitan descartar una enfermedad clínica subyacente. En los casos moderados o severos, la cirugía es el tratamiento de elección. El objetivo del presente manuscrito es discutir algunos puntos de interés acerca de los aspectos más importantes relacionados con la ginecomastia, incluyendo la fisiopatología, la clínica y el diagnóstico, además de presentar las principales causas asociadas a esta condición. Por último, se describen los tipos de tratamiento disponibles para estos pacientes
Gynecomastia is the benign breast enlargement in males. Etiologically it is classified as physiological and pathological. Physiological gynecomastia is more frequently observed in newborns, adolescents, and in older men. Pathological gynecomastia is associated with multiple factors, including hormonal and of tumor origin, and to the use of certain medications, among other factors; however, in many patients the underlying cause may never be identified. Anamnesis and physical examination are the fundamental pillars that will guide towards the etiology, with the support of laboratory and imaging tests to rule out an underlying disease. In moderate or severe cases, surgery is the treatment of choice. The aim of this article is to discuss some key points about the most important aspects related to gynecomastia, including pathophysiology, symptoms and diagnosis, in addition to presenting the main causes associated with this condition. Finally, the types of treatment available for these patients are described
Subject(s)
Gynecomastia , Testosterone , Estrogens , Hypogonadism , AndrogensABSTRACT
El uso de opioides ha aumentado en forma significativa en las últimas décadas, lo que nos ha permitido conocer sus diversos efectos en el sistema endocrino. Estos efectos están sub diagnosticados, en parte porque los síntomas se confunden con los de la misma enfermedad que lleva al uso de opioides y porque no los buscamos de forma dirigida. El hipogonadismo y la insuficiencia suprarrenal son sus efectos más establecidos, sin embargo, otros efectos como los provocados en el tejido óseo requieren de especial atención. La evaluación de los ejes gonadotropo, adrenal y de la salud ósea debe tenerse en consideración en los usuarios crónicos de opioides, particularmente frente a la presencia de síntomas. La suspensión o reducción del uso de opioides es el primer tratamiento del compromiso endocrinológico.
The use of opioids has increased significantly in recent decades, which has allowed us to understand its effects on the endocrine system. These effects are underdiagnosed, the symptoms are confused with those of the same disease that leads to the use of opioids and we do not look for them in a targeted way. Hypogonadism and adrenal insufficiency are its most established effects, however, other effects such as the ones caused on bone tissue require special attention. Evaluation of gonadotropic and adrenal axes as well as bone health should be taken into consideration in chronic opioid users, particularly in the presence of symptoms. Stopping or reducing opioid use is the first treatment for endocrine compromise.
Subject(s)
Humans , Endocrine System Diseases/chemically induced , Endocrine System/drug effects , Analgesics, Opioid/adverse effects , Adrenal Insufficiency/chemically induced , Hypogonadism/chemically inducedABSTRACT
Abstract Objective: To evaluate, in a sample of patients with disorders of sex development (DSD), data related to the age at referral and their correlation with the initial complaints, gender at referral, defined gender after diagnosis and etiological diagnosis. Methods: Retrospective review of the age at the first consultation and the reason for it, initial social gender and gender after the diagnosis, karyotype and etiological diagnosis of all cases treated at a DSD outpatient clinic between 1989 and 2016. Cases that did not involve DSD and DSD diagnoses that do not usually involve ambiguous genitalia, thus not requiring specialized monitoring, were excluded. Results: Of the 1793 treated cases, 1139 were diagnosed with some type of DSD. This study excluded 430 cases (272 with Turner's syndrome, 66 with Klinefelter syndrome, and 92 with pure gonadal dysgenesis), thus a total 709 individuals were included. Of these, 82.9% were referred due to ambiguous genitalia; only one-quarter were still in the first month of life, and 6.6% were referred due to pubertal delay, with most of them aged 10 years or older. Of these patients, 68.6% had a diagnosis of XY DSD, 22.4% of XX DSD, and 9% of sex chromosome abnormalities. Conclusions: This study presents the largest series in the literature of patients with DSD treated in a single center. The time of referral of the majority of patients with ambiguous genitalia fell short of the ideal, and milder cases of ambiguous genitalia and many with pubertal manifestations were referred even later. The results reinforce the importance of continuing education for professionals who will have the first contact with these patients, mainly pediatricians and neonatologists.
Resumo Objetivo: Avaliar em uma amostra de pacientes com distúrbios da diferenciação do sexo (DDS), dados relacionados à idade, ao encaminhamento e sua correlação com as queixas iniciais, ao sexo ao encaminhamento e ao sexo final e diagnóstico etiológico. Métodos: Revisão retrospectiva da idade por ocasião da primeira consulta e motivo dela, sexo social inicial e após definição do diagnóstico, cariótipo e diagnóstico etiológico de todos os casos atendidos em um ambulatório especializado em DDS entre 1989 e 2016. Foram excluídos casos que não compreendiam DDS e diagnósticos de DDS que não cursam comumente com ambiguidade genital, não necessitam de acompanhamento especializado. Resultados: Dos 1.793 casos atendidos, 1.139 foram diagnosticados com algum DDS. Excluíram-se 430 (272 síndrome de Turner, 66 síndrome de Klinefelter e 92 disgenesia gonadal pura), totalizando 709. Desses, 82,9% foram encaminhados por ambiguidade genital, somente um quarto ainda no primeiro mês de vida e 6,6% por atraso puberal, a maioria com 10 anos ou mais; 68,6% tiveram diagnóstico de DDS XY; 22,4% DDS XX e 9% de anomalias dos cromossomos sexuais. Conclusões: Este estudo apresenta a maior casuística na literatura de pacientes com DDS atendidos em um único serviço. O momento de encaminhamento da maioria dos pacientes com ambiguidade genital foi aquém do ideal e casos mais leves de ambiguidade e muitos com manifestações puberais foram encaminhados ainda mais tardiamente. Os resultados reforçam a importância do ensino continuado a profissionais que terão o primeiro contato com esses pacientes, principalmente pediatras e neonatologistas.
Subject(s)
Humans , Child , Disorders of Sex Development/diagnosis , Disorders of Sex Development/therapy , Retrospective Studies , Karyotype , PediatriciansABSTRACT
RESUMEN Introducción: El uso de la terapia de reemplazo con testosterona en hombres mayores se ha incrementado en los últimos años, lo que ha generado múltiples controversias aún no resueltas acerca de sus beneficios y riesgos potenciales, sobre todo los relacionados con el desarrollo o agravamiento de la enfermedad prostática o cardiovascular. Métodos: Se realizó una revisión bibliográfica con el objetivo de ofrecer un estado de la cuestión que ayude a los médicos a tomar decisiones al considerar el tratamiento con testosterona en pacientes con hipogonadismo de inicio tardío. La búsqueda de información se realizó en las bases de datos Google Académico, Medline y Pubmed. Conclusiones: El tratamiento con testosterona en el hipogonadismo de inicio tardío es seguro, racional y basado en evidencia, pero no se recomienda ofrecerlo a todos los hombres mayores con niveles bajos de testosterona sérica. Se aconseja en aquellos con síntomas manifiestos de deficiencia androgénica, sin cáncer de próstata activo, de mama o hígado, hematocrito elevado, hiperplasia prostática benigna con síntomas obstructivos graves, nódulo o induración prostática no evaluada, antígeno prostático específico > 4 ng/mL (o > 3 ng/mL en pacientes con alto riesgo), apnea obstructiva del sueño severa no tratada, deseos de fertilidad a corto plazo, insuficiencia cardiaca no controlada, infarto agudo de miocardio o accidente cerebrovascular en los últimos SEIS meses o trombofilia. Se recomienda realizar monitoreo trimestral durante el primer año y luego según cada caso, que incluya evaluación de la respuesta clínica, de condiciones que pueden agravarse con el tratamiento y de parámetros de laboratorio(AU)
ABSTRACT Introduction: The use of testosterone replacement therapy in older men has increased in recent years, which has generated multiple controversies not yet resolved about its benefits and potential risks, especially those related to the development or worsening of the prostate or cardiovascular disease. Methods: A literature review was conducted with the aim of offering a state of the art that helps clinicians make decisions when considering testosterone treatment in patients with late-onset hypogonadism. The information search was carried out with the Google Scholar, Medline and Pubmed search engines. Conclusions: Testosterone treatment in late-onset hypogonadism is safe, rational, and evidence-based, but it is not recommended to offer it to all older men with low serum testosterone levels. It is advised in those with overt symptoms of androgen deficiency, without active prostate, breast or liver cancer, elevated hematocrit, benign prostatic hyperplasia with severe obstructive symptoms, untested prostate nodule or induration, prostate specific antigen > 4 ng / mL (or > 3 ng / mL in high-risk patients), severe untreated obstructive sleep apnea, short-term fertility wishes, uncontrolled heart failure, acute myocardial infarction or stroke in the last SIX months, or thrombophilia. It is recommended to carry out quarterly monitoring during the first year and then according to each case, which includes evaluation of the clinical response, of conditions that can be aggravated by treatment, and of laboratory parameters(AU)
Subject(s)
Humans , Male , Aged , Testosterone/therapeutic use , Hypogonadism/etiologyABSTRACT
Resumen: Introducción: El síndrome de Klinefelter y sus variantes, como alteración en el número de cromosomas sexuales, se encuentra entre los trastornos del desarrollo sexual. Sus portadores manifiestan hipogonadismo hipergonadotrófico en la pubertad; las variantes severas presentan además problemas neurocognitivos y del lenguaje desde edades tempranas. Objetivo: Describir dos pacientes portadores de mal formación genital con diagnóstico genético de variantes severas de síndrome de Klinefelter; y revisar aspectos clínicos y terapéuticos. Casos Clínicos: Caso 1: Diagnóstico de genitales atípicos al nacer: Falo pequeño y corvo con meato uretral a nivel escrotal y escroto bífido. Sin otra anomalía somática, excepto sutil clinodactilia del 5 dedo. Cariotipo: 49,XXXXY. Al año de vida se reconstruyeron los genitales. Evolucionó con retraso global del desarrollo, principalmente del lenguaje, manejado con estimulación temprana kinésica y fonoaudiológica desde los 2 meses, logró integrarse en un jardín de infantes. Caso 2: Al mes de vida se constató falo pequeño y corvo severo (más de 70°), testículos en bolsa. Cariotipo: 48,XXYY. Al año de vida se corrigió malformación del pene. Evolucionó con retraso global del desarrollo, fundamentalmente en el lenguaje expresivo, y fue manejado con el equipo de estimulación temprana desde los 4 meses, logrando adaptación en un jardín de infantes. Conclusión: Las malformaciones genitales condujeron al diagnóstico de variantes severas de síndrome de Klin efelter, y fueron corregidas alrededor del año de vida. La identificación temprana de estas variantes permitió la intervención del equipo de neuroestimulación, favoreciendo el desarrollo neurocognitivo y la integración social de estos niños.
Abstract: Introduction: Among the disorders of sexual development, Klinefelter syndrome and its variants are classified as an alteration in the number of sex chromosomes. These patients show signs of hypergonadotropic hypogonadism at puberty, however cases of severe variants also present neurocognitive and language problems from an early age. Objective: To describe two patients with genital malformation with genetic diagnosis of severe variants of Klinefelter syndrome, and to review clinical and therapeutic aspects. Clinical Cases: Case 1: Diagnosis of atypical genitalia at birth: Small and curved phallus with the urethral meatus at scrotal level, and bifid scrotum. No other somatic abnormality was observed, except for subtle clinodactyly of the fifth finger. Karyotype: 49, XXXXY. At one year of life, genitalia were reconstructed. The patient presented a global developmental delay, mainly in language, which was managed with early stimulation and speech and language therapy since he was two months old. Finally, he was able to attend kindergarten. Case 2: At one month of life, a small and severe curved phallus (more than 70°) was observed, and testicles were in the scrotum. Karyotype: 48, XXYY. At one year of life, the penile malformation was corrected. The patient presented global developmental delay, mainly in expressive language which was managed with early stimulation since the age of four months, achieving kindergarten attendance. Conclusion: Genital malformations led to the diagno sis of severe variants of Klinefelter syndrome, and were corrected around the year of life. The early identification of these variants allowed the intervention of the neurostimulation team, favoring the neurocognitive development and social integration of these children.
Subject(s)
Humans , Male , Female , Infant, Newborn , Genitalia/abnormalities , Klinefelter Syndrome/diagnosis , Severity of Illness Index , Klinefelter Syndrome/pathologyABSTRACT
El término disgenesia gonadal pura hace referencia a mujeres fenotípicas con infantilismo sexual, amenorrea primaria, hábito eunucoide y un cariotipo 46, XX o 46, XY sin anomalías cromosómicas. Puede asociarse a complicaciones como osteoporosis y síndrome metabólico, elevando el riesgo cardiovascular. Se presenta una paciente femenina de 16 años y 8 meses de edad que acude a consulta de endocrinología por presentar amenorrea primaria.
The term pure gonadal dysgenesis refers to phenotypic women with sexual infantilism, primary amenorrhea an d the eunucoid habit and a 46, XX or 46, XY karyotype without chromosomal abnormalities. It can be associated with complications such as osteoporosis and metabolic syndrome, increasing cardiovascular risk. We present a female patient of 16 years and 8 months of age who attended endocrinology clinic for presenting primary amenorrea.
Subject(s)
Humans , Female , Adolescent , Gonadal Dysgenesis, 46,XX/diagnosis , Hypogonadism/etiology , Gonadal Dysgenesis, 46,XX/complications , Amenorrhea/etiology , Infertility, FemaleABSTRACT
RESUMEN Introducción: El hipogonadismo masculino puede provocar una reducción importante de la calidad de vida. La determinación de testosterona total constituye la opción inicial para el diagnóstico bioquímico del hipogonadismo. Objetivo: Determinar el intervalo de referencia de testosterona total para la población masculina en edad reproductiva del municipio Plaza de la Revolución. Métodos: Se realizó un estudio transversal y descriptivo, en una muestra representativa (n= 143) de la población masculina entre 20 y 40 años de edad, del municipio Plaza de la Revolución. Para el reclutamiento de la muestra se utilizó un método directo. El intervalo de referencia se estableció mediante un método no paramétrico. Se realizó interrogatorio, examen físico, complementarios bioquímicos (glucemia, colesterol, triglicéridos, HDL-c, LDL-c), y hormonales (testosterona total, PRL, FSH y LH). Resultados: El promedio de edad fue de 29,7 años. El índice de masa corporal osciló entre 18,95 y 29,88 kg/m2 (valor medio 24,15). Las medias de las circunferencias de cintura y cadera fueron de 86,62 cm y 99,77 cm respectivamente. El intervalo de referencia de testosterona total calculado para la población masculina del municipio Plaza de la Revolución, fue de 7,69 a 40,52 nmol/L. La mediana para la testosterona total fue de 19,10 nmol/L. Conclusiones: El intervalo de referencia de testosterona total calculado para la población masculina adulta (20 - 40 años) del municipio Plaza de la Revolución difiere del reportado por el fabricante del kit diagnóstico y puede resultar de utilidad en la práctica clínica(AU)
ABSTRACT Introduction: Male hypogonadism may cause a significant reduction in the quality of life. The determination of total testosterone constitutes the initial option for the biochemical diagnosis of hypogonadism. Objective: To determine the reference interval of total testosterone for the male population in reproductive age of Plaza de la Revolución municipality. Methods: It was conducted a cross-sectional and descriptive study in a representative sample (n=143) of the male population from 20 to 40 years old of Plaza de la Revolución municipality. For the recruitment of the sample it was used a direct method. The reference interval was established through a non-parametric method. There were conducted interrogations, physical examination, complementary biochemical (blood glucose, cholesterol, triglycerides, HDL-c, LDL-c), and hormonal tests (total testosterone, PRL, FSH and LH). Results: The average age was 29.7 years. The body mass index ranged between 18.95 and 29.88 kg/m2 (mean value of 24.15). The means of the waist and hip circumferences were 86.62 and 99.77 cm, respectively. The reference interval of total testosterone calculated for the male population of Plaza de la Revolución municipality was of 7.69 to 40.52 nmol/L. The mean for total testosterone was 19.10 nmol/L. Conclusions: The reference interval of total testosterone calculated for the adult male population (20 - 40 years old) of Plaza de la Revolución municipality differs from that reported by the manufacturer of the diagnostic kit and it can be useful in clinical practice(AU)
Subject(s)
Humans , Male , Adult , Physical Examination/methods , Testosterone/adverse effects , Hypogonadism/diagnosis , Quality of Life , Reference Values , Body Mass Index , Epidemiology, Descriptive , Cross-Sectional StudiesABSTRACT
Resumen La diabetes insípida central es un trastorno ocasionado por la deficiencia total o parcial de la síntesis, secreción o ambas de la hormona antidiurética, causada por una disfunción hipotálamo-hipofisaria que resulta en un síndrome poliúrico con polidipsia severa. Este trastorno puede ser primario, debido a anormalidades genéticas, o secundario a lesiones posquirúrgicas, traumáticas, infecciosas o tumorales. Describimos el caso de un paciente de 15 años de edad al momento del diagnóstico. En la primera visita el paciente tenía un claro síndrome poliúrico. La resonancia magnética de cráneo mostró únicamente un aracnoidocele selar; sin embargo, en el estudio de seguimiento realizado ocho meses después se encontró engrosamiento del tallo hipofisario y una lesión osteolítica en el hueso parietal izquierdo. El paciente fue tratado con resección quirúrgica de la lesión lítica, seguida de 12 ciclos de quimioterapia. Dos años después se confirmó hipogonadismo hipogonadotrópico. La ausencia de lesiones al momento del diagnóstico no excluye la posibilidad de que se hagan aparentes las lesiones tumorales clásicas, como en nuestro caso, en el que únicamente aparecía un aracnoidocele inicial y pocos meses después se hizo evidente el engrosamiento del tallo hipofisario y la metástasis osteolítica.
Abstract Central diabetes insipidus is a disorder produced by total or partial deficiency in the synthesis or secretion of antidiuretic hormone caused by hypothalamic-hypophyseal dysfunction, which results in a polyuric syndrome with severe polydipsia. This disorder may be primary when it is caused by genetic abnormalities, or secondary to postoperative, traumatic, infectious or tumoral lesions. This paper reports the case of a male patient, admitted at the endocrine clinic at the age of 15 with a severe polyuric syndrome. At the time of diagnosis of diabetes insipidus, a magnetic resonance was performed demonstrating only a sellar arachnoidocele; however, in the follow-up study conducted eight months later, we found a marked thickening of the hypophyseal stalk and an osteolytic lesion on the left parietal bone. The patient was treated by surgical resection of the lytic parietal bone lesion, followed by 12 cycles of chemotherapy. Two years later, we confirmed the diagnosis of hypogonadotropic hypogonadism. Absent lesions at moment of diagnosis do not exclude the possibility of the appearance of classic tumoral lesions on follow-up studies, like in our case in which only the initial aracnoidocele appeared, but few months later a thickening of the hypophyseal stalk and bone metastasis became evident.
ABSTRACT
Introducción: El síndrome de Prader-Willi es una enfermedad genética, causada por deleciones de novo en la región 15q11q13 en el cromosoma paterno. Se caracteriza por falta de saciedad que conduce a obesidad mórbida, trastornos del comportamiento, discapacidad intelectual, baja estatura e hipogonadismo. Objetivo: Describir los resultados obtenidos del análisis e intervención multidisciplinar realizados en paciente diagnosticado con el síndrome de Prader-Willi. Presentación del caso: Análisis de caso clínico en menor de 8 años, sexo masculino, diagnosticado con síndrome de Prader-Willi, a través de intervención multidisciplinaria realizado en tres momentos: evaluación, diagnóstico e intervención con enfoque cognitivo conductual. Conclusiones: Las estrategias adoptadas generaron cambios significativos en el contexto familiar y social, entre ellas, apropiación de las recomendaciones suministradas, adopción de factores protectores, identificación de roles y optimización en la adherencia farmacológica. La atención a estas consideraciones proporciona mejoras, que apuntan a la calidad de vida y clínica del paciente(AU)
Introduction: Prader-Willi syndrome is a genetic disease caused by de novo deletions in the 15q11q13 region in the paternal chromosome. It is characterized by lack of satiety leading to morbid obesity, behavioral disorders, intellectual disability, short height and hypogonadism. Objective: To describe the results obtained from the multidisciplinary analysis and intervention performed in a patient diagnosed with Prader-Willi syndrome. Presentation of the clinical case: Clinical case analysis in an 8 years old child, male sex, diagnosed with Prader-Willi syndrome through a multidisciplinary intervention performed in three moments: assessment, diagnosis and intervention with cognitive behavioral approach. Conclusions: The strategies adopted generated significant changes in the social and family context, family´s appropriation of the recommendations provided, adoption of protective factors, roles identification and improving of adherence to treatment. By taking into account this considerations, improvements lead to clinic and life quality of the patient(AU)
Subject(s)
Humans , Male , Child , Prader-Willi Syndrome/therapy , Early Intervention, Educational/methods , Prader-Willi Syndrome/epidemiology , Family Health/educationABSTRACT
RESUMEN El síndrome de Prader-Willi (SPW) es un trastorno genético, que afecta el neurodesarrollo que, a pesar de su baja frecuencia, merece ser considerado como un trastorno de relevancia clínica al ser la causa más frecuente de obesidad de origen genético. Las manifestaciones clínicas que derivan de SPW tienen origen en la desregulación hipotalámica, por lo que al comprender la trascendencia e implicación de ésta se entenderá la amplia gama de manifestaciones que pueden presentarse con severidad variable y cuyas complicaciones a su vez afectan la salud y socialización a largo plazo lo que influye sobre la calidad de vida de los pacientes con SPW. El diagnóstico preciso permite distinguir este síndrome de otros trastornos genéticos y de otras patologías que afectan la función hipotalámica a la vez que posibilita estimar la gravedad de las manifestaciones y el riesgo de repetición en una misma familia. Por ello, esta revisión se presenta con el objetivo de describir las manifestaciones clínicas del síndrome de Prader-Willi que orienten la sospecha clínica, las similitudes que comparte éste con otros trastornos, así como dar a conocer las técnicas de diagnóstico disponibles que favorecen el abordaje de los pacientes y facilitar su manejo integral oportunamente.
ABSTRACT Prader-Willi syndrome (PWS) is a genetic disorder that affects neurodevelopment, which, despite its low frequency, deserves to be consideredaclinically relevant disorder since it is themost frequent cause of genetically derived obesity. The clinical manifestations that derive from SPW correlate to those from a hypothalamic dysregulation, so that, understanding the importance and implication of the hypothalamic involvement, the wide range of manifestations that can present with variable severity and whose complications in turn affect the health can be understood. and long-term socialization affecting the quality of life of patients with PWS. An accurate diagnosis can discriminate this syndrome from other genetic disorders and from non-genetic pathologies that affect hypothalamic function, while also allowing to estimate the severity in a specific patient and the risk of repetition in other family members. Therefore, the present descriptive review is aimed to describe the clinical manifestations of Prader-Willi syndrome to guide the clinical diagnosis; the signs and symptoms that can differentiate this syndrome from other disorders, as well as presenting a description of the actual diagnostic techniques that can allow a prompt and precise diagnosis, and thus, translate in a comprehensive and timely approach of the patients with PWS.
ABSTRACT
Descoberta e sintetizada na Alemanha na década de 1930, a testosterona foi utilizada em vários experimentos, além da reposição no hipogonadismo clinicamente diagnosticado. Seu uso aumentou nos anos 1970, principalmente na pesquisa clínica como contraceptivo masculino. Nos anos 1990, novas formulações foram disponibilizadas, mas emergiram dúvidas sobre a segurança da reposição, ensejando mais ensaios clínicos. Nas duas últimas décadas, sociedades médicas desenvolveram diretrizes, instituindo parâmetros de tratamento (níveis hormonais, resultados sintomáticos, monitoramento da segurança) e regulamentando a prescrição de testosterona. Recente publicação apresentou e discutiu as abordagens referentes à terapia com testosterona para homens, conforme atuais condutas adotadas por médicos dos Estados Unidos e da Europa. Na Europa, a motivação para a prescrição de testosterona está embasada no argumento de que a terapia de reposição beneficia o paciente, o que é apoiado por diretrizes. Nos Estados Unidos, o cenário varia: num extremo, reposição de testosterona sem testes prévios nem monitoramento terapêutico e pouca supervisão; no outro, testes laboratoriais extensivos e prescrição limitada. Duas diretrizes (da American Urological Association e da Endocrine Society) orientam sobre o uso adequado, mas não há controle formal. Apesar das diferenças entre o cenário europeu e o norte-americano, há semelhanças importantes: recomendações de diretrizes para que apenas homens com testosterona baixa e sinais/sintomas associados sejam candidatos ao tratamento, comprovação de eficácia clínica e segurança das terapias para serem aprovadas, práticas baseadas em evidências e opiniões de especialistas, melhora da qualidade de vida e longevidade, por meio de modelos financeiramente viáveis.
Subject(s)
Humans , Male , Testosterone , United States , Drug Therapy , Europe , Men's Health , HypogonadismABSTRACT
Introducción Los desórdenes de diferenciación sexual son condiciones clínicas en las que existe una discrepancia entre el sexo cromosómico y el sexo fenotípico de un individuo. Esas condiciones suelen resultar angustiantes para los pacientes y sus familias e incluso para el equipo médico tratante debido a la dificultad en diagnosticarlas. Objetivo Presentar las características clínicas, genéticas y hormonales de dos varones con desórdenes de diferenciación sexual. Método Se realizó un estudio descriptivo basado en la revisión y análisis de datos de la historia clínica y la confrontación de los resultados con reportes similares. Resultados Se observaron dos individuos con fenotipo masculino y diagnóstico de hipogonadismo hipergonadotrófico con cariotipo 46, XX. El primer caso presentó testes pequeños y azoospermia, mientras que el segundo caso presentó baja talla, criptorquidea bilateral congénita y escrotos hipoplásicos. En ambos pacientes se exploró la presencia del gen SRY, confirmando su presencia en el primer caso y ausencia en el segundo caso. Conclusiones El diagnóstico genético-molecular actual apela a la combinación de técnicas tradicionales junto a técnicas modernas, como secuenciación por paneles genéticos a fin de identificar etiológicamente los desórdenes de diferenciación sexual. La presentación de esos casos aún se considera rara debido a su baja tasa de frecuencia poblacional, por lo que su reporte siempre resultará útil a la comunidad científica ya que muestran las distintas formas de presentación clínica y el manejo multidisciplinario de esos casos en diferentes contextos clínicos
Introduction Disorders of Sexual Development are clinical conditions in which a discrepancy between the chromosomal sex and the phenotypic sex occurs in an individual. These conditions are often distressing for patients and their families and even for the medical team due to the difficulty of diagnosing them. Objective The aim of this study was to present the clinical, genetic and hormonal characteristics of two males with sexual differentiation disorders. Method A descriptive study was performed based on the review and analysis of the clinical history data and the comparison of the results with similar cases reported. Results Two individuals with a male phenotype and a diagnosis of hypogonadotropic hypogonadism with 46, XX karyotype were observed. The first case presented small testes and azoospermia, while the second case presented low height, congenital bilateral cryptorchid and hypoplastic scrotums. The SRY gene was explored in both patients, and it was confirmed its presence in the first case and its absence in the second case. Conclusions The current molecular-genetic diagnosis calls for the combination of traditional techniques combined with modern techniques, such as the genetic panel sequencing, to identify etiologically the Disorders of Sexual Development. The presentation of these cases is even considered rare because of their low population frequency rate, so their report is always useful to the scientific community, for they show the different ways of the clinical disease presentation and the multidisciplinary management of these cases in different clinical contexts.