Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia

Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia

Author Stuchi-Perez, E. Gabas Google Scholar
Lukas-Croisier, C. Google Scholar
De Castro, M. Google Scholar
Baptista, MT Matias Google Scholar
Scolfaro, M. Ribeiro Google Scholar
Marques-De-Faria, A. P. Google Scholar
Hackel, C. Google Scholar
Maciel-Guerra, A. T. Google Scholar
Guerra, G. Google Scholar
Institution Universidade Estadual de Campinas (UNICAMP)
Ecole Normale Super
Universidade Federal de São Paulo (UNIFESP)
Abstract 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.
Keywords androgen insensitivity
anti-Mullerian hormone
gonadal dysgenesis
Leydig cell
5 alpha-reductase deficiency
Sertoli cell
Language English
Date 2000-06-01
Published in Journal Of Pediatric Endocrinology & Metabolism. London: Freund Publishing House Ltd, v. 13, n. 6, p. 605-612, 2000.
ISSN 0334-018X (Sherpa/Romeo, impact factor)
Publisher Freund Publishing House Ltd
Extent 605-612
Origin http://dx.doi.org/10.1515/JPEM.2000.13.6.605
Access rights Closed access
Type Article
Web of Science ID WOS:000088041700004
URI http://repositorio.unifesp.br/11600/44536

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