Akella Radha Ramadevi
Department of Genetics, Rainbow Children's Hospital, Sandor Proteomics Pvt Ltd, Hyderabad, Telangana, India.
Indian J Endocrinol Metab. 2017 Jul-Aug;21(4):520-523. doi: 10.4103/ijem.IJEM_345_16.
Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor () gene causing end-organ resistance to the androgenic hormone.
Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the gene.
Two novel missense mutations were identified, p.L822P and p.P392S, in two families with complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS), respectively. Both had 46, XY karyotype. The mother was a heterozygous carrier in PAIS and negative in CAIS. These two were novel mutations, reported for the first time, in the gene. analysis predicted that both mutations were damaging. We reviewed the various reported Indian mutations in the gene.
gene mutations cause a wide spectrum of disorders from CAIS to male infertility or primary amenorrhea. Early diagnosis is essential for gender assignment and further management, family counseling, and prenatal diagnosis.
雄激素不敏感综合征（AIS）是一种罕见的X连锁疾病，由于雄激素受体（）基因突变导致终末器官对雄激素激素产生抵抗。
通过染色体核型分析和对该基因的靶向外显子组测序，对两个家族进行了遗传学研究。
在两个分别患有完全性雄激素不敏感（CAIS）和部分性雄激素不敏感（PAIS）的家族中，分别鉴定出两个新的错义突变，即p.L822P和p.P392S。两者均为46，XY核型。母亲在PAIS中为杂合子携带者，在CAIS中为阴性。这两个是该基因中首次报道的新突变。分析预测这两个突变均具有损害性。我们回顾了该基因中各种已报道的印度突变。
基因突变会导致从CAIS到男性不育或原发性闭经等广泛的疾病。早期诊断对于性别分配、进一步治疗、遗传咨询和产前诊断至关重要。
