46, XX Sry(+) Male Sexual Differentiation Disorder with Metabolic Syndrome: A Case Report

ABSTRACT

In disorders of sexual differentiation, sexual development may not be in accordance with chromosomal structure. 46,XX male syndrome is one of these kind of situations of which most of the patients are in normal male phenotype at birth. These patients are diagnosed while investigating for gynecomastia during puberty or infertility at older ages. One of the comorbidities of testosterone deficiency is metabolic syndrome. Recent studies have demonstrated a strong relationship between hypogonadism and metabolic syndrome. A 42-year-old male patient was admitted to our outpatient clinic with the complaint of gynecomastia. Based on laboratory tests results, he was diagnosed with hypergonadotropic hypogonadism accompanied by metabolic syndrome. Chromosomal analysis showed 46,XX SRY (+) genotype.