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

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorStuchi-Perez, Eliana G.
dc.creatorHackel, Christine
dc.creatorOliveira, Luiz Eduardo C.
dc.creatorFerraz, Lucio F. C.
dc.creatorOliveira, Laurione C.
dc.creatorNunes-Silva, Daniela
dc.creatorToralles, Maria Betania
dc.creatorSteinmetz, Leandra
dc.creatorDamiani, Durval
dc.creatorMaciel-Guerra, Andrea T.
dc.creatorGuerra Júnior, Gil
dc.date2014-05-27T11:21:42Z
dc.date2016-10-25T18:21:28Z
dc.date2014-05-27T11:21:42Z
dc.date2016-10-25T18:21:28Z
dc.date2005-12-01
dc.date.accessioned2017-04-06T01:15:58Z
dc.date.available2017-04-06T01:15:58Z
dc.identifierJournal of Pediatric Endocrinology and Metabolism, v. 18, n. 12, p. 1383-1389, 2005.
dc.identifier0334-018X
dc.identifierhttp://hdl.handle.net/11449/68561
dc.identifierhttp://acervodigital.unesp.br/handle/11449/68561
dc.identifier10.1515/JPEM.2005.18.12.1383
dc.identifier2-s2.0-30944433182
dc.identifierhttp://dx.doi.org/10.1515/JPEM.2005.18.12.1383
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/889891
dc.descriptionAim: 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.
dc.languageeng
dc.relationJournal of Pediatric Endocrinology and Metabolism
dc.rightsinfo:eu-repo/semantics/closedAccess
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 evaluation
dc.typeOtro


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