Central precocious puberty in partial androgen insensitivity syndrome: a 9-year follow-up
Abstract
Androgen insensitivity syndrome (AIS) is a group of complex clinical symptoms caused by X-linked genetic defects. It results from inactivating mutations in the androgen receptor (AR) gene, leading to hormone resistance in individuals with an XY karyotype despite normal androgen synthesis. We present a case of a 2-year-1-month-old boy who initially showed signs of incomplete masculinization of the external genitalia and underwent transverse preputial island flap urethroplasty during childhood. At the age of 7, he presented with gynecomastia, accompanied by accelerated growth and advanced bone age, with significantly elevated serum sex hormone levels. During this period, epididymitis recurred repeatedly. Genetic testing indicated a pathogenic mutation in the androgen receptor gene. The diagnosis of partial AIS with central precocious puberty was established, and treatment was initiated sequentially with oral letrozole and tamoxifen. The patient underwent multiple surgical procedures and experienced distress related to breast development. A review of the literature indicates that most patients with AIS present with delayed puberty; to date, only 2 cases of AIS combined with central precocious puberty have been reported. This case highlights diagnostic challenges, treatment considerations, and the importance of long-term multidisciplinary care, and further delineates the clinical phenotype.
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