Adolescent Medicine, 2nd Pediatric Unit, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
Sex Dev. 2010;4(3):150-4. doi: 10.1159/000273265. Epub 2009 Dec 30.
5alpha-Reductase-2 deficiency is a rare 46,XY disorder of sex differentiation caused by mutations in the 5alpha-reductase type 2 gene. It presents at birth with variable degree of undervirilization. Here, a baby with 5alpha-reductase-2 deficiency and misdiagnosis of complete androgen insensitivity syndrome, female sex assignment and early gonadectomy is described. During primary school, the girl developed tomboy behavior. Molecular analysis demonstrated compound heterozygosity for 5alpha-reductase type 2 gene mutations (exon 2: Q126R; exon 4: H230P). This child underlines the need for adequate endocrine and genetic testing for a definite diagnosis before gender is assigned in children with ambiguous genitalia and surgical interventions are carried out. Inadequate work-up may result in inappropriate gender assignment in infancy with possible inferences on outcome.
5α-还原酶-2 缺乏症是一种由 5α-还原酶 2 基因突变引起的罕见的 46,XY 性别分化障碍，出生时表现为不同程度的雄激素不敏感。本研究报道了一例 5α-还原酶-2 缺乏症并误诊为完全雄激素不敏感综合征的患儿，该患儿被分配为女性性别并进行了早期性腺切除术。在小学期间，该女孩表现出男性化行为。分子分析显示 5α-还原酶 2 基因突变的复合杂合性（外显子 2：Q126R；外显子 4：H230P）。该患儿强调了在进行性别分配和手术干预之前，对具有生殖器模糊的儿童进行充分的内分泌和基因检测以明确诊断的必要性。如果检查不充分，可能会导致婴儿期性别分配不当，从而对结果产生影响。
