RESUMO

INTRODUCTION: In spite of significant changes in the management policies of intersexuality, clinical evidence show that not all pubertal or adult individuals live according to the assigned sex during infancy. AIM: The purpose of this study was to analyze the clinical management of an individual diagnosed as a female pseudohermaphrodite with congenital adrenal hyperplasia (CAH) simple virilizing form four decades ago but who currently lives as a monogamous heterosexual male. METHODS: We studied the clinical files spanning from 1965 to 1991 of an intersex individual. In addition, we conducted a magnetic resonance imaging (MRI) study of the abdominoplevic cavity and a series of interviews using the oral history method. MAIN OUTCOME MEASURES: Our analysis is based on the clinical evidence that led to the CAH diagnosis in the 1960s in light of recent clinical testing to confirm such diagnosis. RESULTS: Analysis of reported values for 17-ketosteroids, 17-hydroxycorticosteroids, from 24-hour urine samples during an 8-year period showed poor adrenal suppression in spite of adherence to treatment. A recent MRI study confirmed the presence of hyperplastic adrenal glands as well as the presence of a prepubertal uterus. Semistructured interviews with the individual confirmed a life history consistent with a male gender identity. CONCLUSIONS: Although the American Academy of Pediatrics recommends that XX intersex individuals with CAH should be assigned to the female sex, this practice harms some individuals as they may self-identify as males. In the absence of comorbid psychiatric factors, the discrepancy between infant sex assignment and gender identity later in life underlines the need for a reexamination of current standards of care for individuals diagnosed with CAH.

Assuntos

Assuntos

RESUMO

En la anamnesis de la hirsuta, destaca el inicio peripuberal del hirsutismo y en el examen físico la importancia del vello pubiano que aporta el 40 por ciento del score total. Del 74 por ciento de hirsutas hiperandrogénicas, el 34 por ciento poseen elevación exclusiva de la testosterona, el 24 por ciento de la dehidroepiandrosterona sulfato y el 42 por ciento un alza de ambas. El alto porcentaje de dehidroepiandrosterona sulfato aumentada, sola o junto a testosterona, sugiere un compromiso suprarrenal en la etiología del hirsutismo, respaldado por un 50 por ciento de prueba de estimulación suprarrenal con hiperrespuesta de este andrógeno, en hirsutas y en pacientes con síndrome de ovario poliquístico. El alza de la 17 hidroxiprogesterona basal, obliga a realizar prueba de estimulación cob ACTH para descartar su origen ov+arico y confirmar el déficit de la 21 hidroxilasa. Un 5 por ciento de las hirsutas tenían acantosis nigricans con resistencia insulínica y alteraciones lipídicas. Se analiza el tratamiento con antiandrógenos, ciproterona y espironolactona y la frenación con glucocorticoides

Assuntos

Assuntos

RESUMO

A atividade endócrina relacionada com os órgäos sexuais foi avaliada em mulheres menopausadas e pós-menopausadas, antes e depois da ressecçäo cirúrgica bilateral dos ovários. Comparando os valores urinários das gonadotrofinas dos 17-cetoesteróides e estrogênios, comprova-se uma persistente atividade endócrina nos ovários senis

Assuntos

RESUMO

UNLABELLED: We determined glucocorticoid receptors in human mononuclear leukocytes in 9 patients with Cushing's disease, in order to correlate them with laboratory data. Receptors were measured by a whole-cell assay method, after incubation with [3H]-dexamethasone in the presence or absence of excess unlabelled hormone. In Cushing's disease, there were 4425 +/- 364 sites/cell (N = 9), similar to in the controls: 4473 +/- 476 (N = 10); average Kd was 2.42 +/- 0.52 nmol/l (N = 3) similar to in the controls: 2.0 +/- 0.20 nmol/l (N = 3). In Cushing's patients we found significant negative correlations between basal glucocorticoid receptors and: 1) morning blood cortisol (r = -0.67, P less than 0.05), and 2) 17-ketogenic steroids after 2 mg of dexamethasone (r = -0.85, P less than 0.01). No correlations were observed with afternoon blood cortisol, free urinary cortisol, basal and post-8-mg dexamethasone 17-ketogenic steroids, TRH-TSH area, urinary calcium, plasma glucose, or systolic blood pressure. CONCLUSIONS: In Cushing's disease, a subtle receptor down-regulation may exist, as suggested by the inverse relationship between glucocorticoid receptors and morning blood cortisol. Secondly, the relationship between basal receptors and 17-ketogenic steroids after 2 mg of dexamethasone suggests that glucocorticoid receptors in human mononuclear leukocytes could reflect the sensitivity of the nervous system-pituitary-adrenal axis to dexamethasone inhibition.

Assuntos

RESUMO

Fourteen hirsute girls, ages 12 to 22 years (mean +/- SD: 17.2 +/- 2.6 years), in whom 21-hydroxylase deficiency was excluded by a 1-hour intravenous alpha 1-24 corticotropin test, were evaluated by a 4-day dexamethasone test and then treated with a bedtime dose of dexamethasone (0.5 mg in 10 patients, 0.25 mg in four) for 0.6 to 3.4 years (1.3 +/- 0.8 years). Hirsutism decreased in four patients, did not change in nine, and increased in one. Of the 10 patients with irregular menses, only three developed regular cycles while taking dexamethasone. During long-term dexamethasone therapy, serum levels of testosterone decreased from 102 +/- 22 to 72 +/- 27 ng/dL, free testosterone from 35 +/- 11 to 19 +/- 8 pg/mL, and dehydroepiandrosterone sulfate from 396 +/- 138 to 171 +/- 101 micrograms/dL. Although free testosterone decreased to less than 15 pg/mL in eight of 14 patients with the suppression test, only four patients had free testosterone levels less than 15 pg/mL during therapy. Two of the 14 patients have had no recurrence of hirsutism or increase in serum androgens after 28 and 29 months, respectively, after dexamethasone therapy was discontinued. Oral contraceptives were given to nine patients inadequately responsive to bedtime dexamethasone therapy. The mean percent decrease of testosterone and free testosterone levels during oral contraceptive therapy was significantly greater than during long-term treatment with dexamethasone, and hirsutism lessened in all. We conclude that a single bedtime dose of dexamethasone is satisfactory only in patients who maintain serum free testosterone values less than 15 pg/mL without side effects. For other patients, either another glucocorticoid or, in most cases, ovulation suppression should be prescribed for adolescents with progressive hirsutism and elevated androgen levels.

Assuntos

Assuntos

RESUMO

Se desarrolló una microtécnica para la cuantificación de 17-cetoesteroides en orina de 24 horas. Se procesaron 75 muestras de orina con concentraciones bajas, medias y altas. Al analizar las muestras por la microtécnica se obtiene un ahorro de 66% en reactivos y por ende, en costo por prueba. Se encontró excelente correlación entre el micrométodo y macrotécnica, p <0.001, r = 0.99. Por lo tanto, esta técnica es recomendable por su excelente reproducibilidad y economía

Assuntos

RESUMO

Se presenta un método de fraccionamiento de 17-Cetoesteroides (17-Ce) neutros urinarios, mediante dos cromatografías en capa delgada sucesivas: la primera, sobre sílica gel, separa en forma adecuada androstenodiona (delta 4) etiocoloanoloma (E) y derivados 11 oxigenados (C19 O3); la segunda, sobre óxido de aluminio y doble desarrollo, separa convenientemente dehidroepiandrosterona (DHEA) de adrosterona (A). Para ambas se utiliza el sistema de solventes compuesto por cloruro de metileno: etanol (97:3). Las determinaciones cuantitativas se realizan aplicaciones intra e interensayos por triplicado fueron: para C19 O3 ñ 3,62 y ñ 4,31; E, ñ 4,94 y ñ delta 4, ñ 2,08 y ñ 6,27; DHEA, ñ 6,66 y ñ 7,45; A, ñ 3,00 y ñ 13,26, respectivamente. La exactitud del método oscila entre 92,1 y 106,8%. En un cuadro comparativo se ordenan, además, los valores de referencia del método y los referidos por algunos autores en nuestro páis y en el extranjero. El método es relativamente sencillo y reproducible; requiere de instrumental accesible y logra un fraccionamiento satisfactorio de los 17-Ce más importantes en el manejo del laboratorio clínico

Assuntos

RESUMO

Se presenta un método de fraccionamiento de 17-Cetoesteroides (17-Ce) neutros urinarios, mediante dos cromatografías en capa delgada sucesivas: la primera, sobre sílica gel, separa en forma adecuada androstenodiona (delta 4) etiocoloanoloma (E) y derivados 11 oxigenados (C19 O3); la segunda, sobre óxido de aluminio y doble desarrollo, separa convenientemente dehidroepiandrosterona (DHEA) de adrosterona (A). Para ambas se utiliza el sistema de solventes compuesto por cloruro de metileno: etanol (97:3). Las determinaciones cuantitativas se realizan aplicaciones intra e interensayos por triplicado fueron: para C19 O3 ñ 3,62 y ñ 4,31; E, ñ 4,94 y ñ delta 4, ñ 2,08 y ñ 6,27; DHEA, ñ 6,66 y ñ 7,45; A, ñ 3,00 y ñ 13,26, respectivamente. La exactitud del método oscila entre 92,1 y 106,8%. En un cuadro comparativo se ordenan, además, los valores de referencia del método y los referidos por algunos autores en nuestro páis y en el extranjero. El método es relativamente sencillo y reproducible; requiere de instrumental accesible y logra un fraccionamiento satisfactorio de los 17-Ce más importantes en el manejo del laboratorio clínico (AU)

Assuntos

RESUMO

Uma paciente com síndrome de Sheehan (necrose pituitária pós-parto) desenvolveu gravidez a termo, quatro anos após a instalaçäo do hipopituitarismo, na vigência de reposiçäp hormonal tiroidiana e corticosteróide. Testes de estímulo da pituitária demonstraram claramente que o setor gonadotrófico era responsivo, sugerindo que possivelmente as células gonadotróficas teriam sido poupadas, pelo menos parcialmente, o suficiente para que houvesse ovulaçäo espontânea.

Assuntos

RESUMO

To explore the potential effect of dose schedule on the adrenal suppressive action of hydrocortisone in congenital adrenal hyperplasia, eight patients (six with 21-hydroxylase deficiency and two with 11-hydroxylase deficiency) were given five different dose schedules. Two of the schedules used single daily doses (morning or evening), two twice daily doses (two-thirds dose in the morning or evening), one and three equal doses at morning, noon, and night. Each dose schedule used the same total daily hydrocortisone dose (12.5 mg/m2/day), which is within the normal range of hydrocortisone production rate. Each schedule was given for 4 to 6 weeks. The different dose schedules caused the predicted alterations in the temporal pattern of adrenal steroid levels, with the greatest apparent suppression during the 2 to 4 hours after each dose. None of the schedules, however, caused significant differences in the mean 24-hour plasma concentration of 17-hydroxyprogesterone (21-hydroxylase deficiency) or 11-deoxycortisol (11-hydroxylase deficiency) or in the 24-hour urine pregnanetriol or 17-ketosteroid concentrations, either in the six patients undertreated at the dose of 12.5 mg/m2/day or in the two patients adequately treated. Nocturnal administration of all or a part of the daily dose did not improve adrenal suppression. These observations suggest that treatment of congenital adrenal hyperplasia with a once-a-day hydrocortisone dose schedule may be as effective as conventional multiple-dose schedules. Until this hypothesis has been tested by more extended clinical studies, however, we do not recommend a once-a-day schedule. Regardless of the dose schedule, the total daily hydrocortisone dose must be adjusted to achieve a normal rate of growth and bone age advancement.

Assuntos

Assuntos

Assuntos

Assuntos

Assuntos

Assuntos

RESUMO

Forty-two patients ages 15 to 20 years (average 17.3 years) were evaluated for oligomenorrhea. Group I consisted of 19 patients with evidence of androgen excess (hirsutism, clitoromegaly, acne); and Group II included 23 patients without evidence of androgen excess. Sixteen of the 19 patients in Group I had elevated serum LH and normal FSH values. Serum total testosterone concentration was elevated in 12 patients and free T was elevated in one additional patient. In nine patients urinary 17KS excretion was elevated and dexamethasone suppressible. For the purpose of treatment, patients in Group I were divided into three subgroups: IA, polycystic ovary syndrome--12 patients; IB, adrenal block--two patients; IC, combined adrenal and ovarian hyperandrogenism--five patients. Among the 23 Group II patients, four had persistently elevated serum LH and normal FSH values, suggesting PCO; three had menopausal levels of LA and FSH; one had hyperprolactinemia and a depressed floor of the pituitary sella; and the remaining 15 patients had low to normal serum levels of LH and FSH, consistent with hypothalamic suppression. Guidelines for the diagnosis and treatment of adolescents with oligomenorrhea are discussed on the basis of these findings.

Assuntos

RESUMO

Therapy of congenital adrenal hyperplasia tranditionally is monitored by the amount of urinary 17-KS. However, 24-hour urine collections are difficult to obtain and are often unreliable. Measurement of the plasma concentrations of androgens, such as delta or T, would therefore be a more convenient way to determine the efficacy of treatment. Over a period of 2 to 24 months, 23 patients were periodically assessed by clinical examination, bone age, and determinations of plasma delta, plasma T, and 24-hour urinary 17-KS. Plasma T concentration correlated well with clinical control in females and in preadolescent males, but not in infant and pubertal males. By contrast, plasma delta concentration correlated well with clinical control in either sex, regardless of stage of puberty. The present study suggests that monitoring plasma delta concentration is useful in the long-term management of patients with CAH.

Assuntos