Stuchi-Perez, Eliana G.Hackel, ChristineOliveira, Luiz Eduardo C.Ferraz, Lucio F. C.Oliveira, Laurione C.Nunes-Silva, DanielaToralles, Maria BetaniaSteinmetz, LeandraDamiani, DurvalMaciel-Guerra, Andrea T.Guerra Júnior, Gil2014-05-272014-05-272005-12-01Journal of Pediatric Endocrinology and Metabolism, v. 18, n. 12, p. 1383-1389, 2005.0334-018Xhttp://hdl.handle.net/11449/68561Aim: 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.1383-1389eng5α-reductaseAndrogen insensitivity syndromeDihydrotestosteroneMüllerian inhibiting hormonePseudohermaphroditismTestosteroneandrostanoloneglycoproteinmullerian inhibiting hormonemullerian-inhibiting hormonesteroid 5alpha reductasetestis peptide hormonetestosteroneandrogen receptorchorionic gonadotropinfollitropinluteinizing hormoneMuellerian inhibiting factoradolescentadultbloodcase control studychildfemalegeneticshumaninfantmalenewbornorchiectomyphysiologypreschool childage distributionclinical articlecontrolled studygonadectomygonadotropin blood levelhormonal regulationhormone actionhormone blood levelhormone determinationhormone releaseprepubertyprotein deficiencypseudohermaphroditismpubertysexual dysfunctiontestosterone blood leveltype 2 5alpha reductase deficiencyAdolescentAdultCase-Control StudiesChildChild, PreschoolFemaleGlycoproteinsHumansInfantInfant, NewbornMaleOrchiectomyTesticular HormonesTestosterone 5-alpha-ReductaseArtigo10.1515/JPEM.2005.18.12.1383Acesso restrito2-s2.0-30944433182