A 46,XX male adolescent presenting with a chief complaint of gynecomastia

This report describes a case of gynecomastia in a boy aged 17 years and 6 months who had shown progressive breast budding for 1 year before presenting to our hospital. His only symptom was symmetrical nipple pain. Biochemical testing revealed higher than normal luteinizing hormone, follicle-stimulating hormone, and estradiol levels, and decreased testosterone levels, which led to a diagnosis of hypergonadotropic hypogonadism. A multiplex polymerase chain reaction analysis and chromosomal analysis determined that the patient had the sex-determining region of the Y chromosome (SRY) gene -positive 46,XX karyotype. The presented case is unique since, to the best of our knowledge, only few cases of 46,XX male syndrome presenting as gynecomastia have been reported thus far.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Source Type: research