title: Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.
abstract: OBJECTIVE
  To evaluate anti-Müllerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5alpha-reductase 2 deficiency.
  
  
  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 5alpha-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.
authors.affiliation: Interdisciplinary Group for Study on Sex Determination and Differentiation (GIEDDS), School of Medicine, State University of Campinas (UNICAMP), Brazil.
authors.forename: Eliana G
authors.initials: EG
authors.lastname: Stuchi-Perez
authors.forename: Christine
authors.initials: C
authors.lastname: Hackel
authors.forename: Luiz Eduardo C
authors.initials: LE
authors.lastname: Oliveira
authors.forename: Lucio F C
authors.initials: LF
authors.lastname: Ferraz
authors.forename: Laurione C
authors.initials: LC
authors.lastname: Oliveira
authors.forename: Daniela
authors.initials: D
authors.lastname: Nunes-Silva
authors.forename: Maria Betania
authors.initials: MB
authors.lastname: Toralles
authors.forename: Leandra
authors.initials: L
authors.lastname: Steinmetz
authors.forename: Durval
authors.initials: D
authors.lastname: Damiani
authors.forename: Andrea T
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Junior
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D054304:Anti-Mullerian Hormone; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D013196:Dihydrotestosterone / Q000097:blood; D005260:Female; D006023:Glycoproteins / Q000502:physiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009919:Orchiectomy; D013735:Testicular Hormones / Q000502:physiology*; D013739:Testosterone / Q000097:blood
chemical_list: D006023:Glycoproteins; D013735:Testicular Hormones; D013196:Dihydrotestosterone; D013739:Testosterone; D054304:Anti-Mullerian Hormone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase