Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.

CONCLUSIONS: Forty-six XY DSD patients with cryptorchidism and female phenotypes were highly suspected of having AIS. We demonstrated that CAIS patients could not be distinguished by their hormone levels alone. Compared with PAIS patients, CAIS patients exhibited higher basal FSH, peak FSH, and peak LH hormone levels but lower AMH expression. We identified 21 reported pathogenic AR mutations and 9 novel AR mutations that led to different types of AIS. Missense mutations were the major cause of AIS and mostly occurred in exon 7 of the AR gene. These findings provided deeper insight into the diagnosis and classification of AIS and will even contributed to its clinical assessment. PMID: 32345305 [PubMed - in process]
Source: Reproductive Biology - Category: Reproduction Medicine Authors: Tags: Reprod Biol Endocrinol Source Type: research