Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia
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2000-06-01
Autores
Stuchi-Perez, E. Gabas
Lukas-Croisier, C.
De Castro, M.
Baptista, MT Matias
Scolfaro, M. Ribeiro
Marques-De-Faria, A. P.
Hackel, C.
Maciel-Guerra, A. T.
Guerra, G.
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Investigation of the origin of sexual ambiguity is complex. 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 serum anti-Mullerian hormone (AMH) as a marker of Sertoli cell function may also help clinicians. The aim of this study was to evaluate both Leydig and Sertoli cell functions in 46,XY patients with intersex states in order to establish biochemical patterns that would help to reach an etiologic diagnosis. We measured serum androgens, AMH and gonadotropins in 24 patients with sexual ambiguity and XY karyotype: 8 with gonadal dysgenesis (GD), 3 with 3 beta-hydroxy-steroid dehydrogenase deficiency (3 beta HSD), 5 with androgen insensitivity syndrome (AIS), 4 with 5 alpha-reductase 2 (SRD5A2) deficiency, and 4 were of unknown origin or idiopathic, Our results showed that while testosterone was low and gonadotropins elevated in patients with either GD or 3 beta HSD, AMH was low in the former and high in the latter. Serum AMH and gonadotropins were normal or high in patients with 3 beta HSD or AIS, but these could be distinguished by testosterone levels. Serum testosterone and gonadotropins were normal or high in AIS and SRD5A2 deficiency patients; however, while AMH was elevated in AIS, it was not the case in SRD5A2 deficiency patients, indicating that testosterone is sufficient to inhibit AMH within the testis. In idiopathic cases gonadotropins and testosterone were normal, and AMH was normal or low. We conclude that the combined measurement of androgens, AMH and gonadotropins helps to establish the diagnosis in intersex patients.
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Journal Of Pediatric Endocrinology & Metabolism. London: Freund Publishing House Ltd, v. 13, n. 6, p. 605-612, 2000.