Androgen insensitivity syndrome: A case report.
Yong Zhang, Houmei Wang, Ziwen Xiao
✦ AI-curated · Sources linked
Case in brief
A 29-year-old phenotypic female presented with primary amenorrhea and intermittent abdominal pain. Examination revealed normal breast development, sparse pubic hair, and female external genitalia. Imaging showed absent uterus and ovaries, with bilateral inguinal masses. Diagnosis of complete androgen insensitivity syndrome was made based on karyotype and phenotype. The patient underwent laparoscopic bilateral orchiectomy and hormone replacement therapy, resulting in resolution of abdominal pain and improved psychological well-being.
Diagnostic / clinical pearl
Clinicians should consider androgen insensitivity syndrome in phenotypic females with primary amenorrhea and absent Müllerian structures, as early diagnosis is crucial for management.
Why it matters
This case highlights the importance of recognizing 46, XY disorders of sex development, which are often underdiagnosed due to phenotypic variability and social biases, emphasizing the need for specialized care.