Department of Endocrinology, Diabetes and Metabolism. Lebanese, American University Medical Center, LAUMCRH, Beirut, Lebanon.
J Med Case Rep. 2021 Apr 17;15(1):202. doi: 10.1186/s13256-021-02738-0.
Androgen insensitivity syndrome is a rare X-linked disorder of sex development, caused by mutations in the androgen receptor. In this case, a 13-year-old child, reared as female, presenting for primary amenorrhea, was diagnosed with complete androgen insensitivity syndrome.
A 13-year-old Caucasian child, reared as female, presents with primary amenorrhea. Physical examination revealed female appearance and a short vagina with blind-ended pouch. Laboratory examination showed high levels of testosterone and anti-Müllerian hormone; uterus and ovaries were absent. Karyotype confirmed a 46,XY pattern. Deoxyribonucleic acid analysis of the androgen receptor gene revealed a homozygous mutation p.R856C in exon 7. Gender was assigned as female, and she was started on hormonal therapy and underwent gonadectomy.
Androgen insensitivity syndrome comprises a large spectrum of presentations. High index of suspicion is needed. Investigation of girls with bilateral inguinal hernia is critical.
雄激素不敏感综合征是一种罕见的 X 连锁性性别发育障碍，由雄激素受体基因突变引起。本案例中，一位 13 岁被当作女孩抚养的患儿因原发性闭经就诊，被诊断为完全型雄激素不敏感综合征。
一位 13 岁的白人女孩，被当作女孩抚养，因原发性闭经就诊。体格检查显示女性外观，阴道短且呈盲袋状。实验室检查显示睾酮和抗苗勒管激素水平升高；子宫和卵巢缺如。核型证实为 46,XY 模式。雄激素受体基因突变分析显示第 7 外显子的纯合突变 p.R856C。性别被指定为女性，她开始接受激素治疗和性腺切除术。
雄激素不敏感综合征表现多样，需要高度怀疑。双侧腹股沟疝女孩的调查至关重要。
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