Background: Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, penoscrotal hypospadias, bifid scrotum with descending or undescending testes and gynecomastia. It is x-linked recessive disease resulting from mutations in androgen receptor (AR) gene.
Objective and hypothesis: To present clinical characteristics of a novel mutation in the AR gene in an adolescent boy with PAIS who presented with gynecomastia at puberty.
Results: A 16-year-old boy was admitted with the complaints of gynecomastia and sparse facial hair. On physical examination, his height SDS was 2.84 and weight SDS was −0.5. His external genitalia was phenotypically male with pubic hair Tanner stage IV and normal axillary hair. Stretched penile length was measured as 8 cm accompanied with penoscrotal hypospadias and bifid scrotum in which both testes were palpable as 2 ml. There was bilateral gynecomastia compatible Tanners stage III. Family history revealed male relatives from maternal side with similar clinical phenotype. He had elevated gonadotropins with a normal testosterone level. Chromosome analysis revealed a 46,XY karyotype. Due to the family history suggesting a disorder of X-linked trait, PAIS was considered and molecular analysis of AR gene was performed. DNA sequence analysis revealed a novel mutation hemizygous p.T576I (c.1727C>T) in the AR gene.
Conclusion: The diagnosis of PAIS is based upon clinical phenotype and laboratory findings, and must be confirmed by detection of a defect in the AR gene. An accurate approach including a detailed family history suggesting an x-linked trait is an important clue to arrive at a quick diagnosis.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology