Endocrine Abstracts

Introduction: 46,XX testicular disorder of sex development (DSD) is a rare syndrome, which is characterized by a female karyotype in discordance with a male phenotype. It is presented with primary hypogonadism, gynecomastia and infertility. About 80–90% of 46,XX testicular DSD cases are positive for SRY gene. Appearance of external genitalia and masculinization are usually normal in 46,XX SRY-positive cases

Clinical case: A 41-year-old male came with his partner to the outpatient clinic because of low levels of testosterone detected in routine blood test. He complained about fatigue, low libido and some difficulties to maintain erections since one year. He had no history of mumps, trauma or surgery.He was 169 cm tall and he weighted 74 kg, BMI of 25.9 kg/m². The physical examination reveled a normal penis size, with small soft testis (2 ml). No gynecomastia was detected. Facial, body, and pubic hair were of normal density and distribution. He related his small size of testis since puberty. He had not consulted before for this Laboratoy test showed a low level of total and free testosterone, high levels of gonadotropins, normal levels of prolactin and estrogens. A karyotype and semen analysis were assessed. The karyotype analysis showed a 46,XX formula. The polymerase chain reaction analysis confirmed the presence of SRY gen. The semen analysis showed azoospermia. These results were consistent with 46, XX DSD. The diagnostic had a high emotional impact and he needed psychological support to accepted it and the fact that he was infertile He started testosterone replacement but he refused to do other tests: magnetic resonance imaging of the pelvis or bone densitometry.

Conclusion: It is important to diagnose as soon as possible this testicular DSD syndrome, to avoid its negative emotional impact and the consequences of a chronic testosterone deficiency.