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

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dc.contributor.authorStuchi-Perez, E. Gabas
dc.contributor.authorLukas-Croisier, C.
dc.contributor.authorDe Castro, M.
dc.contributor.authorBaptista, MT Matias
dc.contributor.authorScolfaro, M. Ribeiro
dc.contributor.authorMarques-De-Faria, A. P.
dc.contributor.authorHackel, C.
dc.contributor.authorMaciel-Guerra, A. T.
dc.contributor.authorGuerra, G.
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionEcole Normale Super
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2018-06-15T18:07:32Z
dc.date.available2018-06-15T18:07:32Z
dc.date.issued2000-06-01
dc.description.abstractInvestigation 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.en
dc.description.affiliationUniv Campinas, Fac Med Sci, Interdisciplinary Grp Study Sex Determinat & Diff, Sao Paulo, Brazil
dc.description.affiliationEcole Normale Super, INSERM, Unite Rech Endocrinol Dev, Montrouge, France
dc.description.sourceWeb of Science
dc.format.extent605-612
dc.identifierhttp://dx.doi.org/10.1515/JPEM.2000.13.6.605
dc.identifier.citationJournal Of Pediatric Endocrinology & Metabolism. London: Freund Publishing House Ltd, v. 13, n. 6, p. 605-612, 2000.
dc.identifier.doi10.1515/JPEM.2000.13.6.605
dc.identifier.issn0334-018X
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/44536
dc.identifier.wosWOS:000088041700004
dc.language.isoeng
dc.publisherFreund Publishing House Ltd
dc.relation.ispartofJournal Of Pediatric Endocrinology & Metabolism
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectandrogen insensitivityen
dc.subjectanti-Mullerian hormoneen
dc.subjectgonadal dysgenesisen
dc.subjectintersexen
dc.subjectLeydig cellen
dc.subjectpubertyen
dc.subject5 alpha-reductase deficiencyen
dc.subjectSertoli cellen
dc.subjecttestisen
dc.subjecttestosteroneen
dc.titleEvaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitaliaen
dc.typeinfo:eu-repo/semantics/article
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