Diagnosis of 5 alpha-reductase type 2 deficiency: Contribution of anti-Mullerian hormone evaluation

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dc.contributor.authorStuchi-Perez, E. G.
dc.contributor.authorHackel, C.
dc.contributor.authorOliveira, LEC
dc.contributor.authorFerraz, LFC
dc.contributor.authorOliveira, L. C.
dc.contributor.authorNunes-Silva, D.
dc.contributor.authorToralles, M. B.
dc.contributor.authorSteinmetz, L.
dc.contributor.authorDamiani, D.
dc.contributor.authorMaciel-Guerra, A. T.
dc.contributor.authorGuerra, G.
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade Federal da Bahia (UFBA)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2020-12-10T16:33:09Z
dc.date.available2020-12-10T16:33:09Z
dc.date.issued2005-01-01
dc.description.abstractAim: To evaluate anti-Mullerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5 alpha-reductase 2 deficiency. Patients and Methods: Data from 14 patients whose age ranged from 21 days to 29 years were analyzed according to age and pubertal stage. Sexual ambiguity was rated as Prader III in 11 patients. LH, FSH, testosterone (T), dihydrotestosterone (DHT) and AMH serum levels were measured in all but two patients, who had been previously submitted to gonadectomy; T and DHT were also measured in 20 age-matched controls. Results: Gonadotropin levels were normal in all but one patient who retained gonads (six of whom had reached puberty) and T/DHT ratio was elevated in all patients when compared to controls. All prepubertal patients had AMH levels < -1 SD for age, while most pubertal patients had AMH levels compatible with pubertal stage. Conclusions: Prepubertal patients with 5 alpha-reductase 2 deficiency have AMH values in the lower part of the normal range. These data indicate that T does not need to be converted to DHT to inhibit AMH secretion by Sertoli cells.en
dc.description.affiliationUniv Estadual Campinas, Sch Med, GIEDDS, Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, Sch Med, CBMEG, Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, Sch Med, Dept Clin Pathol, Physiol Lab, Campinas, SP, Brazil
dc.description.affiliationUniv Fed Bahia, Sch Med, Dept Pediat, Salvador, BA, Brazil
dc.description.affiliationState Univ Sao Paulo, Sch Med, Unit Pediat Endocrinol, Sao Paulo, Brazil
dc.description.affiliationUnespState Univ Sao Paulo, Sch Med, Unit Pediat Endocrinol, Sao Paulo, Brazil
dc.format.extent1383-1389
dc.identifier.citationJournal Of Pediatric Endocrinology & Metabolism. Berlin: Walter De Gruyter Gmbh, v. 18, n. 12, p. 1383-1389, 2005.
dc.identifier.issn0334-018X
dc.identifier.urihttp://hdl.handle.net/11449/194648
dc.identifier.wosWOS:000235123800004
dc.language.isoeng
dc.publisherWalter De Gruyter Gmbh
dc.relation.ispartofJournal Of Pediatric Endocrinology & Metabolism
dc.sourceWeb of Science
dc.subjectandrogen insensitivity syndrome
dc.subjectMullerian inhibiting hormone
dc.subjectdihydrotestosterone
dc.subjectpseudohermaphroditism
dc.subjecttestosterone
dc.subject5 alpha-reductase
dc.titleDiagnosis of 5 alpha-reductase type 2 deficiency: Contribution of anti-Mullerian hormone evaluationen
dc.typeArtigo
dcterms.rightsHolderWalter De Gruyter Gmbh

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