Hédia S, Mohamed S, Insaf H A, Houda G, Yamina F, Myrvat K, Maria H, Ali H
Service de Médecine Interne B E.P.S Charles Nicolle, Tunis.
Tunis Med. 2001 Apr;79(4):261-5.
Male pseudo hermaphroditism caused by steroid 5 alpha reductase deficiency is a rare autosomal recessive disorder. This enzyme catalyses the conversion of testosterone to dihydrotestosterone (DHT) in genital tissue. The potent androgen DHT is required for full masculinization of the external genitalia hence, masculinization defects of varying degree result from diminished DHT formation. We report a Tunisian patient who was raised as a girl, presented to us at the age of 15, because male phenotype had become predominant at puberty. Endocrinological investigations revealed an in crease in the ratio serum testosterone/DHT = 17. Treatment with dihydrotestosterone and surgical correction, after psychological evaluation permitted the change of gender identity to male.
由类固醇5α还原酶缺乏引起的男性假两性畸形是一种罕见的常染色体隐性疾病。该酶催化生殖组织中睾酮向双氢睾酮（DHT）的转化。强效雄激素DHT是外生殖器完全男性化所必需的，因此，DHT生成减少会导致不同程度的男性化缺陷。我们报告了一名突尼斯患者，其自幼被当作女孩抚养，15岁时前来就诊，因为在青春期男性表型变得占主导。内分泌学检查显示血清睾酮/双氢睾酮比值升高至17。在心理评估后，给予双氢睾酮治疗并进行手术矫正，使性别认同转变为男性。
