ESPE Abstracts

Objective: This study aims to investigate the cause of cryptorchidism in a young boy.

Case report: A 12 years old boy was admitted at our department for fever and lack of appetite. During physical examination, right cryptorchidism and subcoronal hypospadias were evident. Left testicle was in scrotum and it was of 4 ml in volume. In his past clinical history, he had many urological evaluations for the right testicle and speech therapy for speech delay. According to Cacciari growth charts, weight was at 0.52 standard deviations (SDS), stature at -1.73 SDS, BMI at 1.65 SDS. During hospitalization several hormonal analysis were performed for clinical suspicion of pubertal delay. LH was 2.3 mUI/mL, FSH 2.71 mUI/mL, total testosterone 1.46 ng/mL, in the lower limit of reference range for age. CGH-array showed complete duplication of chromosome X and two deletions on chromosome Y, suspecting a 47, XX,del(Y)(q11.2q11.23) karyotype. Surprisingly, the karyotype was 46 XX, with SRY positive. We performed father’s karyotype too, and it was 46, XY.

Conclusions: Although 46XX disorder of sexual development cases are rare, karyotype must be always performed in patients with cryptorchidism or hypospadias. These patients may have infertility problems too. Multiple clinical and biochemical aspects must be taken into account to make an accurate diagnosis, to provide adequate genetic counseling and to guide patients in their long-term management.