ESPE Abstracts

The majority of causes of gynecomastia in children and adolescents are physiologic but if it occurs outside the neonatal and pubertal period or persists after age 17 year, pathologic causes should be considered. A 17 year-old man presented with a 7-month history of breast enlargement without nipple discharge. He was born at 3300 grams. He hadn't any history of chronic disease and medication use. His parents were consangineous more distant than third degree. There was no family history of infertility, gynecomastia, testicular or breast cancer. On physical examination: his weight was 50 kg (-2,38 SDS), height was 167 cm (-1,25 SDS), body mass index was 17,9 kg/m² (-2,07 SDS) and testicular volumes were 25/25 ml. Penile lenght was 12 cm without penile anomalies. Pubic hair was Tanner stage 5 and axillary hair was normal. There was bilateral symmetrical breast enlargement greater than 4 cm in diameter, such as Tanner stage 5 according to the Tanner stage of telarche for girls. In the laboratory examination, complete blood count, electrolytes, liver and kidney function tests were normal. Total testosterone and estradiole levels were high, but luteinizing hormone (LH) level was at the upper limit of the normal range and follicular stimulating hormone (FSH) level was at the lower limit of the normal range. Dehydroepiandrosterodion-sulphate (DHEA-SO4), 17-hydroxy progesterone (17-OH-PG), 1,4 delta androstenedion (1,4 delta AS), prolactine, b-hCG and a-feto protein (AFP) levels were normal (Table 1). In the radiologic evaluation, magnetic resonance imaging of the testes and adrenals did not reveal any mass or enlargement. Because partial androgen insensitivity syndrome (AIS) was considered as the diagnosis, karyotype and AR gene analysis were performed. He had 46 XY karyotype. There was c.877C>A (p.Gln293Lys) hemizygote missense variation was detected in the AR gene analysis (NM_001011645.3). This variant is classified “likely pathogenic” according to ACMG classification and also was previously reported in the literature to be associated with gynecomastia and partial AIS (PAIS). Gynecomastia can occur as the only symptom of AIS. Because of the wide range of clinical manifestations of AIS, it may be more difficult to diagnose in clinically mild cases.