ESPE Abstracts (2015) 84 P-3-799

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

Cemil Kocyigita, Gonul Catlib, Serdar Saritasd, Huseyin Onayc & Bumin Nuri Dundara


aFaculty of Medicine, Department of Pediatric Endocrinology, Katip Celebi University, Izmir, Turkey; bTepecik Training and Research Hospital, Department of Pediatric Endocrinology, Izmir, Turkey; cFaculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey; dDepartment of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey


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 Tanner’s 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.

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