Diagnosis of 5α-reductase type 2 deficiency: Contribution of anti-Müllerian hormone evaluation

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dc.contributor.authorStuchi-Perez, Eliana G.
dc.contributor.authorHackel, Christine
dc.contributor.authorOliveira, Luiz Eduardo C.
dc.contributor.authorFerraz, Lucio F. C.
dc.contributor.authorOliveira, Laurione C.
dc.contributor.authorNunes-Silva, Daniela
dc.contributor.authorToralles, Maria Betania
dc.contributor.authorSteinmetz, Leandra
dc.contributor.authorDamiani, Durval
dc.contributor.authorMaciel-Guerra, Andrea T.
dc.contributor.authorGuerra Júnior, Gil
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade Federal da Bahia (UFBA)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-27T11:21:42Z
dc.date.available2014-05-27T11:21:42Z
dc.date.issued2005-12-01
dc.description.abstractAim: To evaluate anti-Müllerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5α-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 5α-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. © Freund Publishing House Ltd., London.en
dc.description.affiliationInterdisciplinary Group for Study on Sex Determination and Differentiation School of Medicine State University of Campinas, Campinas
dc.description.affiliationMolecular Biology and Genetic Engineering Center School of Medicine State University of Campinas, Campinas
dc.description.affiliationPhysiology Laboratory Clinical Pathology Department State University of Campinas, Campinas
dc.description.affiliationPediatrics Department School of Medicine Federal University of Bahia, Salvador
dc.description.affiliationUnit of Pediatric Endocrinology School of Medicine State University of São Paulo, São Paulo
dc.description.affiliation, Rua Giuseppe Maximo Scolfaro 371, 13083-100 Campinas, SP
dc.format.extent1383-1389
dc.identifierhttp://dx.doi.org/10.1515/JPEM.2005.18.12.1383
dc.identifier.citationJournal of Pediatric Endocrinology and Metabolism, v. 18, n. 12, p. 1383-1389, 2005.
dc.identifier.doi10.1515/JPEM.2005.18.12.1383
dc.identifier.issn0334-018X
dc.identifier.scopus2-s2.0-30944433182
dc.identifier.urihttp://hdl.handle.net/11449/68561
dc.language.isoeng
dc.relation.ispartofJournal of Pediatric Endocrinology and Metabolism
dc.relation.ispartofjcr1.086
dc.rights.accessRightsAcesso restrito
dc.sourceScopus
dc.subject5α-reductase
dc.subjectAndrogen insensitivity syndrome
dc.subjectDihydrotestosterone
dc.subjectMüllerian inhibiting hormone
dc.subjectPseudohermaphroditism
dc.subjectTestosterone
dc.subjectandrostanolone
dc.subjectglycoprotein
dc.subjectmullerian inhibiting hormone
dc.subjectmullerian-inhibiting hormone
dc.subjectsteroid 5alpha reductase
dc.subjecttestis peptide hormone
dc.subjecttestosterone
dc.subjectandrogen receptor
dc.subjectchorionic gonadotropin
dc.subjectfollitropin
dc.subjectluteinizing hormone
dc.subjectMuellerian inhibiting factor
dc.subjectadolescent
dc.subjectadult
dc.subjectblood
dc.subjectcase control study
dc.subjectchild
dc.subjectfemale
dc.subjectgenetics
dc.subjecthuman
dc.subjectinfant
dc.subjectmale
dc.subjectnewborn
dc.subjectorchiectomy
dc.subjectphysiology
dc.subjectpreschool child
dc.subjectage distribution
dc.subjectclinical article
dc.subjectcontrolled study
dc.subjectgonadectomy
dc.subjectgonadotropin blood level
dc.subjecthormonal regulation
dc.subjecthormone action
dc.subjecthormone blood level
dc.subjecthormone determination
dc.subjecthormone release
dc.subjectprepuberty
dc.subjectprotein deficiency
dc.subjectpseudohermaphroditism
dc.subjectpuberty
dc.subjectsexual dysfunction
dc.subjecttestosterone blood level
dc.subjecttype 2 5alpha reductase deficiency
dc.subjectAdolescent
dc.subjectAdult
dc.subjectCase-Control Studies
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFemale
dc.subjectGlycoproteins
dc.subjectHumans
dc.subjectInfant
dc.subjectInfant, Newborn
dc.subjectMale
dc.subjectOrchiectomy
dc.subjectTesticular Hormones
dc.subjectTestosterone 5-alpha-Reductase
dc.titleDiagnosis of 5α-reductase type 2 deficiency: Contribution of anti-Müllerian hormone evaluationen
dc.typeArtigo

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