Avaliação funcional das celulas de Leydig e de Sertoli em 24 casos de ambiguidade genital com cariotipo 46,XY

AUTOR(ES)
DATA DE PUBLICAÇÃO

1999

RESUMO

The investigation of the origin of sex ambiguity is a very complex matter. Sex differentiation is dependent upon the action of two testicular hormones: testosterone and anti-Müllerian hormone (AMH). Although testicular function has traditionally been assessed only by examining the steroidogenic capacity of Leydig cells and spermatogenesis, it has recently been shown that the measurement of the serum AMH may also help clinicians, as a marker of Sertoli cell function. AMH is responsible for the regression of Müllerian ducts in the male fetus, continues to be secreted after birth by immature Sertoli cells, and is negatively regulated by testosterone at puberty. The aim of this study was to evaluate both Leydig and Sertoli cell function in 46,XY patients with intersex states in order to establish biochemical patterns that would help to reach an etiologic diagnosis. We measl,lred serum androgens, AMH and gonadotropins in 24 patients with sex ambiguity and XY karyotype. The diagnosis of these cases was: 8 with gonadal dysgenesis, 5 with androgen insensitivity syndrome, 4 with 5a-reductase 2 deficiency, 3 with 3 p-hydroxysteroid dehydrogenase deficiency, and 4 idiopathic. Our results showed that while testosterone was low and gonadotropins sometimes elevated in patients with either gonadal dysgenesis or 3 p-hydroxysteroid dehydrogenase deficiency, AMH was very low in the former and normal or high in the latter, helping to guide the diagnosis. Serum AMH and gonadotropins were normal or high in patients with either 3 p-hydroxysteroid dehydrogenase deficiency or androgen insensitivity syndrome, but testosterone levels made the distinction. Serum testosterone and gonadotropins were normal or high in androgen insensitivity syndrome and 5a-reductase 2 deficiency patients; however, while AMH was normal or elevated in androgen insensitivity syndrome, it was not the case in 5a-reductase 2 deficiency patients, indicating that testosterone does not need to be transformed to dihydrotestosterone to inhibit AMH in the testis. We conclude that the combined measurement of androgens, AMH and gonadotropins enhances the comprehension of testicular pathophysiology and helps to establish the diagnosis in intersex patients

ASSUNTO(S)

androgenos testiculos testosterona gonadotrofinas

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