Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.
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.
Stuchi-Perez
Eliana G
EG
Interdisciplinary Group for Study on Sex Determination and Differentiation (GIEDDS), School of Medicine, State University of Campinas (UNICAMP), Brazil.
Hackel
Christine
C
Oliveira
Luiz Eduardo C
LE
Ferraz
Lucio F C
LF
Oliveira
Laurione C
LC
Nunes-Silva
Daniela
D
Toralles
Maria Betania
MB
Steinmetz
Leandra
L
Damiani
Durval
D
Maciel-Guerra
Andrea T
AT
Guerra-Junior
Gil
G
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
D006023:Glycoproteins; D013735:Testicular Hormones; D013196:Dihydrotestosterone; D013739:Testosterone; D054304:Anti-Mullerian Hormone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase