
Diagnosis of 5α-Reductase Type 2 Deficiency: Contribution of Anti-Müllerian Hormone Evaluation
2005; De Gruyter; Volume: 18; Issue: 12 Linguagem: Inglês
10.1515/jpem.2005.18.12.1383
ISSN2191-0251
AutoresE.G. Stuchi-Perez, C Hackel, Luiz Eduardo Chimello de Oliveira, Lúcio Fábio Caldas Ferraz, Letícia de Castro Oliveira, Daniela Nunes-Silva, Maria Betânia Pereira Toralles, Leandra Steinmetz, Durval Damiani, Andréa Trevas Maciel‐Guerra, Gil Guerra‐Júnior,
Tópico(s)Ovarian function and disorders
ResumoTo evaluate anti-Müllerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5alpha-reductase 2 deficiency.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.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.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.
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