Importancia de la historia familiar en el cáncer de mama y ovario

Objetivo: Presentar el caso de una paciente, quien acudió para evaluación ginecológica. La misma resultó clínicamente sana pero en su grupo familiar destaca la alta frecuencia de cáncer de mama y de ovario, lo cual indujo a sospechar alto riesgo para el cáncer de mama hereditario (CaMH); a propósito del mismo se revisa esta patología y se resalta la importancia de la historia familiar. Caso clínico: Mujer de 25 años de edad, que acude a la consulta para realizar control ginecológico. Diagnóstico: paciente clínicamente sana, pero con antecedentes familiares, de alta frecuencia de cáncer de mama (CaM) y cáncer de ovario, razón por la cual se procede a investigar al grupo familiar. Se revisan las historias clínicas del archivo del IAHULA y se entrevistan los familiares. Familia no consanguínea, padres sanos, mayores de 70 años sin cáncer, 3 hermanos y 7 hermanas. Cuatro hermanas fallecieron en un periodo de 9 años, en edades comprendidas entre 24 y 35 años: 3 por CaM y 1 por Ca de ovario, tía materna con CaM y abuela paterna con probable Ca de ovario (síndrome ascítico no ictérico) ambas fallecidas en el medio rural. Antecedentes personales de las 4 hermanas fallecidas: menarquia en promedio de 12.3 años, paridad y lactancia 2/4, nulípara 2/4, ninguna obesa, ni hábitos alcohólicos. Al momento del diagnóstico todas en estadios avanzados de cáncer. Tipo histopatológico del CaM: ductal infiltrante poco diferenciado (2/3), lobulillar y medular (2/3); bilateral (1/3); sin determinar receptores de estrógeno, progesterona o andrógenos. Metástasis a cerebro y pulmón (2/3) durante tratamiento. En ovario: cistoadenoma mucinoso, estadio IV, recidiva al año a pesar del tratamiento. Sobrevida de 3 meses a 3 años. A la paciente se le recomendó realizar el estudio genético para poder precisar el riesgo de padecer cáncer de Mama y ovario Hereditario (CaMH) y establecer las medidas de vigilancia. Conclusiones: Se recomienda que ante una paciente con antecedentes familiares de CaM, se investigue a fondo su historia familiar, la cual aún en ausencia de marcadores genéticos, permite sospechar la presencia de un CaMH el cual requiere de un protocolo de prevención y vigilancia diferente al CaM esporádico.

Objective: To present the case of a patient, who went for a gynecological assessment. She was healthy but in his family group stressed a high frequency of breast and ovarian cancer, which led to suspect high risk for hereditary breast cancer (HBCa). This condition is reviewed, highlighting the importance of family history. Case report: A 25 year old woman who consults for a gynecological examination. Healthy patient with a high frequency of breast cancer (BCa) in her family. Not consanguineous family. Healthy parents, 3 brothers and 6 sisters. Four sisters died within a period of 9 years, aged between 24 and 35 years old: 3 from BCa and 1 from ovarian cancer. Maternal aunt with BCa and paternal grandmother with ovarian cancer. Personal history of the 4 deceased sisters: average age of menarche 12.3 years, parity and lactation 2/4, nulliparous 2/4, no obesity, nonalcoholic habits. Initial diagnosis in advanced stages of cancer. Histopathological type of BCa: poorly differentiated (2/3), lobular and medullary (2/3); bilateral 1/3; lung and brain metastases during treatment (2/3). In ovarian: mucinous cystadenoma stage IV, recurrence in one year despite treatment. Survival between 3 months and 3 years. The patient is recommended to perform the genetic study in order to clarify the risk of suffering BCa and surveillance measures. Conclusions: It is recommended in a patient with a family history of BCa, to carry out a thorough investigation of family history, which, even in the absence of genetic markers, allows to suspect the presence of hereditary breast cancer.

Relationship between BMI, total testosterone, sex hormone-binding-globulin, leptin, insulin and insulin resistance in obese men.

The objective of this work was to evaluate the relationship between sex steroid hormones, sex hormone-binding-globulin, leptin, insulin and insulin resistance in obese men. Anthropometrical indexes, total testosterone (Tt), free testosterone (fT), estradiol (E), sex hormone-binding-globulin (SHBG), glucemia, insulin and leptin were measured in 77 men, with ages between 20 and 60 years. According to their body mass index (BMI), subjects were grouped into three categories: normal body weight (< 24.9 kg/m2), overweight (25-29.9 kg/m2) and obese group (> 30 kg/m2). Insulin resistance index was obtained by the homeostasis assessment model for insulin resistance (HOMA-IR). Total testosterone and SHBG concentrations were lower in the obese group compared with normal and overweight subjects (p < 0.05). The mean insulin concentration was significantly higher in the obese group compared with the other groups (p < 0.05). T was negatively correlated with the BMI (r = -0.447; p < .01), WC (r = -0.464); p < .01, leptin (r = -0.382; p < .01), insulin (r = -0.391; p < 0.01) and also with the HOMA-IR (r = -0.416; p < 0.01). The SHBG negatively and significantly correlated with BMI (r = -0.334; p < 0.01) and WC index (= -0.322; p < 0.01), as well with insulin levels (r = -0.313; p < 0.01) and insulin resistance (= -0.266; p < 0.05). Our results shows that in a sample of men, Tt and SHBG concentrations proportionally diminished with both the increase of BMI and insulin resistance index.

Leptina en relación con el sexo, el índice de masa corporal, el estadio puberal y la insulina en niños con déficit de hormonas de crecimiento con y sin tratamiento sustitutivo / Leptin levels and their correlation with sex, body mass index, pubertal status and insulin concentrations in growth-hormone treated and untreated adolescents with growth hormone deficiency

Introducción: En este estudio nos proponemos investigar las concentraciones de leptina y su relación con el sexo, el índice de masa corporal, el estadio puberal y las concentraciones de insulina en un grupo de adolescentes con deficiencia de hormona de crecimiento que recibía tratamiento con la hormona, en un grupo con deficiencia que no recibía tratamiento y en un grupo de control sano. Métodos: Se estudió a 22 sujetos con déficit de hormona de crecimiento; 15 recibían hormona de crecimiento (grupo A) y 7 no la recibían (grupo B). La edad del grupo A era de 12 ± 2,9 años, 7 mujeres y 8 varones, 7 prepúberes y el resto puberales; recibieron 0,1 U/kg/día de hormona de crecimiento por un período de 3,8 ± 1,2 años. La edad del grupo B era de 13,6 ± 1,8, 3 mujeres y 4 varones, 3 prepuberales y el resto puberales que nunca habían recibido hormona de crecimiento. Diecinueve sujetos sanos sin deficiencia de hormona de crecimiento, ajustados por edad ósea e índice de masa corporal más que por edad cronológica participaron como controles (grupo C); 9 mujeres y 10 varones, 11 prepúberes y 8 puberales. Se les tomó el peso y la talla, se calculó el índice de masa corporal y se determinaron las concentraciones basales de leptina e insulina. Resultados: No hubo diferencias en las variables antropométricas y en las concentraciones de insulina y leptina entre los grupos. Se detectó un valor significativamente elevado de leptina en las mujeres y en los pacientes puberales, en los grupos A y C. No se encontraron diferencias significativas en el índice de masa corporal según el sexo, pero sí entre sujetos prepuberales y puberales. La elevación de la leptina en las mujeres fue evidente tanto en el grupo prepuberal como en el puberal, mientras que no se observaron diferencias en relación con el índice de masa corporal. Las variables independientes que predijeron significativamente la concentración de leptina fueron el sexo y el índice de masa corporal. Conclusiones: a) La concentración de leptina e insulina no fue diferente en niños con deficiencia de hormona de crecimiento comparados con niños sanos, ajustados para el índice de masa corporal; b) se confirma el dimorfismo sexual, caracterizado por concentraciones más elevadas de leptina en las mujeres, evidente desde la edad prepuberal y que persiste en los estados de deficiencia de hormona de crecimiento, y c) el índice de masa corporal y el sexo fueron las variables independientes predictoras de las concentraciones de leptina (AU)

Introduction: The aim of this study was to investigate leptin levels and their correlation with gender, body mass index (BMI), pubertal status and insulin concentrations in a group of growth hormone deficient (GHD) adolescents treated with growth hormone (GH), a group of untreated GHD subjects and a group of healthy controls. Methods: We studied 22 GHD subjects; 15 were receiving GH (group A) and seven were not receiving GH (Group B). The mean chronological age in group A was 12.0 ± 2.9 years. There were seven girls and eight boys; seven were prepubertal and the rest were pubertal. All subjects in group A received 0.1 IU/Kg/day of GH for a period of 3.8 ± 1.2 years. The mean age of group B was 13.6 ± 1.8 years. There were three girls and four boys; three were prepubertal, while the rest were pubertal. None had received GH treatment. Nineteen healthy subjects without GHD, matched for bone age and BMI participated in the study as controls (group C). There were 9 girls and 10 boys; 11 were prepubertal, while 8 were pubertal. Weight and height were measured, BMI was calculated and basal leptin and insulin levels were measured. Results: No differences among groups were found in anthropometric variables or insulin and leptin levels. Leptin levels were significantly elevated in girls and in pubertal patients in groups A and C. BMI did not significantly differ between sexes but was significantly different between prepubertal and pubertal subjects. The increase of leptin concentrations in girls was evident in both prepubertal and pubertal subjects, while no differences were noted in relation to BMI. The independent variables that predicted leptin levels were sex and BMI. Conclusions: a) No differences in leptin and insulin levels were found between subjects with GHD and controls, matched for BMI values. b) A sexual dimorphism characterized by increased leptin levels in girls was evident from prepubertal age and persisted in GHD.c) The independent variables that predicted leptin concentrations were BMI and sex (AU)

[Atherogenic lipid profile in children with subclinical hypothyroidism]. / Perfil lipídico aterogénico en niños con hipotiroidismo subclínico.

OBJECTIVE: To evaluate lipid profile in children with subclinical hypothyroidism. PATIENTS AND METHODS: Forty-six children of both sexes aged between 2 and 9 years old, 17 with subclinical hypothyroidism (study group) and 23 healthy children (control group), were studied. Subclinical hypothyroidism was diagnosed when levels of thyroid-stimulating hormone (TSH) were greater than 4.65 .U/mL and those of free thyroxin (fT4) were normal. Children with subclinical hypothyroidism were observed for 4 months with no interventions and TSH and fT4 were again determined to confirm the diagnosis. A complete medical history was taken and a blood sample was extracted for lipid determinations including triglycerides (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C). Anti-thyroglobulin antibodies (ATGA) and antithyroid peroxidase (anti-TPO) antibodies were also determined. RESULTS: Of the 17 children who initially presented elevated serum TSH levels, seven (41.2 %) had normal levels at 4 months and were consequently excluded. No significant differences were found in age, weight, height or body mass index between the study and the control groups. No differences were found between the two groups in levels of anti-TPO antibodies and ATGA. The mean plasma HDL-C level was significantly lower in children with subclinical hypothyroidism than in controls (p < 0.05) and a statistically significant association (p < 0.013) was found between the presence of subclinical hypothyroidism and a greater frequency of low HDL-C levels. CONCLUSION: Subclinical hypothyroidism may be transitory in a considerable percentage of children. Children with subclinical hypothyroidism had significantly lower HDL-C levels, suggesting an atherogenic lipid profile in this entity.

Perfil lipídico aterogénico en niños con hipotiroidismo subclínico / Atherogenic lipid profile in children with subclinical hypothyroidism

Objetivo: Evaluar el perfil lipídico en niños con hipotiroidismo subclínico. Pacientes y métodos: Se estudiaron 46 niños de ambos sexos, en edades comprendidas entre 2 y 9 años, 17 con hipotiroidismo subclínico (grupo de estudio) y 23 niños sanos (grupo control). El hipotiroidismo subclínico se diagnosticó cuando los niveles de tirotropina (TSH) fueron mayores de 4,65 mU/ml y los de tiroxina libre (T4L) fueron normales. Los niños con hipotiroidismo subclínico se observaron por 4 meses sin intervención alguna y se les tomó nueva muestra para TSH y T4L con el objeto de corroborar el diagnóstico. Se les realizó una historia clínica completa y se les tomó muestra de sangre para lipidograma, que incluyó triglicéridos, colesterol total (CT), colesterol unido a las lipoproteínas de alta densidad (c-HDL) y el cálculo del colesterol unido a las lipoproteínas de baja densidad (c-LDL); además se determinaron los anticuerpos antitiroglobulina (anti-TG) y antiperoxidasa (anti-TPO). Resultados: De los 17 niños que presentaron niveles séricos elevados de TSH al inicio, 7 (41,2 %) los normalizaron a los 4 meses, por lo que fueron excluidos. No se apreciaron diferencias significativas en cuanto a la edad, peso, talla e índice de masa corporal entre el grupo de estudio y el control. Los niveles de anticuerpos anti-TPO y anti-TG no fueron diferentes entre los grupos. El nivel plasmático promedio de c-HDL fue significativamente más bajo en los niños con hipotiroidismo subclínico que en los controles (p < 0,05) y se observó una asociación estadística significativa (p < 0,013) entre la presencia de este proceso y la mayor frecuencia de niveles bajos de c-HDL. Conclusión: El hipotiroidismo subclínico puede ser una condición transitoria en un porcentaje importante de niños. Los niños con hipotiroidismo subclínico presentan una disminución significativa en los niveles de c-HDL, lo cual sugiere un patrón lipídico aterogénico en esta entidad

Objective: To evaluate lipid profile in children with subclinical hypothyroidism. Patients and methods: Forty-six children of both sexes aged between 2 and 9 years old, 17 with subclinical hypothyroidism (study group) and 23 healthy children (control group), were studied. Subclinical hypothyroidism was diagnosed when levels of thyroid-stimulating hormone (TSH) were greater than 4.65 mU/mL and those of free thyroxin (fT4) were normal. Children with subclinical hypothyroidism were observed for 4 months with no interventions and TSH and fT4 were again determined to confirm the diagnosis. A complete medical history was taken and a blood sample was extracted for lipid determinations including triglycerides (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C). Anti-thyroglobulin antibodies (ATGA) and antithyroid peroxidase (anti-TPO) antibodies were also determined. Results: Of the 17 children who initially presented elevated serum TSH levels, seven (41.2 %) had normal levels at 4 months and were consequently excluded. No significant differences were found in age, weight, height or body mass index between the study and the control groups. No differences were found between the two groups in levels of anti-TPO antibodies and ATGA. The mean plasma HDL-C level was significantly lower in children with subclinical hypothyroidism than in controls (p < 0.05) and a statistically significant association (p < 0.013) was found between the presence of subclinical hypothyroidism and a greater frequency of low HDL-C levels. Conclusion: Subclinical hypothyroidism may be transitory in a considerable percentage of children. Children with subclinical hypothyroidism had significantly lower HDL-C levels, suggesting an atherogenic lipid profile in this entity

Surgical vs. untreated cryptorchidism: effects on fertility.

Forty-four patients with history of cryptorchidism were studied: 15 untreated (group A); 14 treated by orchiopexy at age 4.5 +/- 1.4 years (group B), and 15 with unilateral orchiectomy of undescended testis at 8.4 +/- 1.6 years (group C). Testicular volume, semen analysis, and LH and FSH were measured. Normal sperm counts were noted in 53%, 36% and 47% of patients in groups A, B and C, respectively. FSH and LH serum levels showed no differences between the groups. Testicular volume of the normal descended testes showed no differences between the three groups. Positive correlation was obtained between testicular volume/sperm concentration and negative correlation between gonadotropins/sperm concentration. The remaining testicular volume and gonadotropin serum values from adults with history of chryptorchidism who underwent orchiectomy were not different from those orchiopexied treated nor with untreated patients. The percentage of men with sperm count greater than 20 millions/mL was lower in the orchiopexied men compared to A and C groups. There seems to be different etiologic factors in our patients.

GnRH and hCG tests in healthy adolescents and adults.

With the aim of obtaining reference values of GnRH test and of hCG test in a Venezuelan population, the authors evaluated the response of the pituitary LH and FSH to the GnRH action in 48 adolescents and 43 adults. Also, in 22 adolescents and in 22 adults from the same sample they evaluated the hCG effect on the gonadal steroids secretion. The maximum LH increment was obtained 30 min after GnRH stimulation, independently from the patients' age and their sexual development. FSH maximum increment was obtained 60 min after GnRH in the adults; meanwhile, the FSH maximum increment was obtained 30 min after GnRH stimulation in the Tanner stage 4 adolescents, and 90 min post-GnRH in the Tanner 5 adolescents. The gonadal steroid secretion 2, 24, 48, and 72 h post-hCG was significantly lower in the Tanner 4 adolescents. The gonadal steroid response post-hGC stimulation in the Tanner 5 adolescent group was similar to the one obtained in the adults. In late puberty the LH response to GnRH stimulus is not related either to age or to sexual development, contrary to the FSH response obtained after GnRH and the gonadal steroid response after hCG stimulus, both of which are related to age and patients' sexual development.

[Concentration of thyrotropic hormone and free thyroxin in children with Down's syndrome]. / Concentraciones de hormona tirotropa y tiroxina libre en niños con síndrome de Down.

The incidence of hypothyroidism is higher among children with Down syndrome than among children in the general population. The frequency of hypothyroidism is higher in the areas of endemic goiter than in other areas. The aim of this paper was to study the concentrations of TSH and FT4 in children with Down syndrome residents of Mérida, a region of Venezuelan Andes. At the Centro de Estudio y Prevención del Retardo Mental y Alteraciones en el Desarrollo (CEPREMAD), the thyroid function was studied in 48 children (1 month to 6 years old), who had Down syndrome, and in 123 healthy children of similar ages. All the children were referred to the Center for thyroid function evaluation. Two (4.2%) of the 48 children with Down syndrome had congenital hypothyroidism and 22 (45.8%) had subclinical hypothyroidism (high concentration of thyrotropin-TSH). Among the control children, only 14% had elevated levels of TSH. There were no differences in relation to the gender. In conclusion in children with Down syndrome, the frequency of high concentrations of TSH was three times higher than the frequency among the healthy children. The frequency of hypothyroidism was similar to that found in areas without endemic goiter.