The patients with androgen insensitivity syndrome can present with various phenotypic anomalies having as a common aspect the loss of reproductive characteristics.
A boy from non-consanguineous family was admitted to pediatric endocrine department because of micropenis. A 7-year and 8-month-old boy was born with 3650 g by caesarean section. On physical examination, height was 124.1 cm (25-50p), height SDS -0.27, weight 29.7 kg (75-90p), and weight SDS was 1.09. The patient was conscious, oriented, and well-nourished with normal secondary sexual characteristics for his age. Genital examination revealed a stretched penile length of 3 cm, penile width of 0.5 cm, and no axillary and pubic hair. Right and left testis were palpated in the scrotal sac.
Karyotyping revealed a normal 46,XY karyotype. Serum follicle-stimulating hormone, luteinizing hormone, and total testosterone levels were 0.79 mIU/mL (normal reference range <6.7), 0.06 mIU/mL (normal reference range 0.3-6.0), and 4.80 ng/dL (normal reference range <7), respectively. Serum testosterone level was increased in response to 1500 units/dose HCG stimulation test for 3 days. No mutation was found for 5-α reductase deficiency. Androgen insensitivity syndrome was diagnosed with hemizygote p.L863F (c.2587C>T) mutation.
We emphasize the importance of genetic analysis in patients with micropenis. Routine genetic analysis to confirm androgen insensitivity syndrome may predict the long-term prognosis and management.