PDF(Pubmed)
Abstract：
A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation. There was no history of consanguinity, and a physical examination raised concerns about possible disorders of sexual development (DSD). Karyotyping and fluorescence in situ hybridization results were consistent with the presence of two X chromosomes, revealing the patient to be a genotypic female. Sanger sequencing showed a heterozygous pathogenic mutation in the CYP21A2 gene known to be associated with 21-hydroxylase deficiency, thus confirming the diagnosis of congenital adrenal hyperplasia (CAH), Prader stage V. DSD with CAH is distressing for the patient and their families, and the management needs a multidimensional approach involving diverse medical, genetic, and psychological considerations. Cytogenetic and molecular genetic studies play an essential role in diagnosis and decision-making and should be made affordable in developing countries for better patient care.
摘要：
一名二十多岁的男性患者向我们的三级专家单位提出生殖器模糊，抱怨身材矮小和交配不足。没有血缘关系的历史,体格检查引起了人们对可能的性发育障碍（DSD）的担忧。核型分析和荧光原位杂交结果与两条X染色体的存在一致，揭示病人是基因型女性.Sanger测序显示CYP21A2基因中已知与21-羟化酶缺乏症相关的杂合致病突变，从而确认先天性肾上腺增生（CAH）的诊断，PraderV.DSD与CAH令患者及其家人感到不安，管理需要一个涉及不同医疗的多维方法，遗传,和心理考虑。细胞遗传学和分子遗传学研究在诊断和决策中起着至关重要的作用，发展中国家应该负担得起更好的患者护理。
