ESPE Abstracts

Background: Partial Androgen Insensitivity Syndrome (PAIS) is characterized by varying degrees of masculinization defects due to impaired androgen action, resulting in a wide range of physical and psychological phenotypes.

Case 1: 18-year-old with a male social gender. The patient presented with hypospadias, micropenis, and cryptorchidism during the neonatal period, and received testosterone therapy during infancy, but showed no increase in penile length. At 13 years old, the patient exhibited hypergonadotropinemia with normal testosterone levels. A silent mutation in the androgen receptor (AR) gene with a previous report of pathogenicity was identified. Due to the presence of marked gynecomastia, the patient's male gender identity was thoroughly confirmed, and a bilateral mastectomy was performed at 14 years old in accordance with the patient's wishes.

Case 2: 14-year-old with a male social gender. The patient presented with hypospadias and micropenis during the neonatal period and received testosterone therapy during infancy, resulting in a slight increase in penile length. The patient preferred wearing skirts during early childhood and developed gynecomastia at 13 years old. Subsequently, the patient expressed discomfort with either male and female gender identity, a desire for longer hair and an interest in cosmetics. A de novo missense mutation in the AR gene was identified.

Case 3: 16-year-old with a female social gender. At the one-year age medical checkup, bilateral inguinal masses were noticed, leading to the diagnosis of clitoromegaly and the presence of 46,XY. Ultrasonography suggested the presence of testes in both inguinal regions, and MRI revealed the absence of a uterus and ovaries. Bilateral orchiectomy was performed at five years old, and vulvoplasty at seven years old. Female hormone replacement therapy was initiated at 11 years old, but medication adherence was poor. The patient has predominantly male friends, prefers dark-colored clothing, and the family suspects a more masculine gender role. A previously reported pathogenic missense mutation in the AR gene was identified.

Conclusion: We presented three cases of PAIS with diverse clinical courses. It is essential to be aware of the need for various physical and psychological care in these patients.