Three cases of partial androgen insensitivity syndrome and literature review
10.3760/cma.j.cn341190-20220611-00481
- VernacularTitle:不完全型雄激素不敏感综合征3例及文献复习
- Author:
Qiang LIU
1
;
Wanli XUAN
;
Mingshu ZHOU
;
Haixia QIN
Author Information
1. 西安医学院第三附属医院妇产科，西安 710060
- Keywords:
Androgen-insensitivity syndrome;
Urogenital abnormalities;
Primary ovarian insufficiency;
Feminization;
Laparoscopy
- From:
Chinese Journal of Primary Medicine and Pharmacy
2023;30(11):1667-1673
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical features, diagnosis, treatment, and future sex selection in patients with partial androgen insensitivity syndrome (PAIS).Methods:Retrospective analysis of clinical data of three patients with PAIS who received treatment in The Third Affiliated Hospital of Xi'an Medical University, Beijing Ditan Hospital of Capital Medical University, and Beijing Yayuncun Amcare Women's and Children's Hospital from 2013 to 2015 was conducted. Physical signs, specialized examinations, surgical explorations, and treatments were analyzed. The Chinese database was searched, and 12 cases of PAIS were collected and summarized.Results:Fifteen patients with PAIS presented with primary amenorrhea (15/15). Special clinical manifestations included gender as male or appearing as male (5/15), penile dysplasia or clitoral hypertrophy (14/15), urethral dysplasia (5/15), and breast development (4/15). Eleven cases were treated based on female gender (including surgery and hormone replacement therapy). There were three special patients with PAIS who had specific etiology, genetics, clinical manifestations, histopathology, diagnosis, and treatment and ultimately underwent treatment based on female gender.Conclusion:PAIS is a rare form of disorder of sex development, featuring a karyotype of 46, XY, and is a congenital X-linked recessive condition. Understanding the pathogenesis of PAIS more thoroughly can contribute to accurate diagnosis, personalized treatment, and well-organized follow-up, thereby preventing gender dysphoria.
