In Children with 46, XY DSD; HCG Testing is not always the Best Answer for Testicular Function Assessment

Abstract

Hormonal levels are the hallmark for the assessment of testicular function in XY DSD (Disorders of sex development). Traditionally, it has relied on testosterone level increment after hCG (human Chorionic Gonadotropin) stimulation testing. More recently role of Sertoli cell hormones is more emphasized. Objectives: Evaluating the role of serum anti-mullerian hormone and inhibin B on function of the pre-pubertal testis without the need for hCG stimulation test. Method: The study was conducted in the Endocrinology Clinic in Alexandria University Children’s Hospital. All patients who present with XY DSD were tested for Testosterone (T), Dihydrotestosterone (DHT), Follicle Stimulating Hormone (FSH), Luteinizing Hormone (LH), Anti-Mullerian Hormone (AMH), inhibin B. All cases had hCG stimulation test. Results: The hCG stimulation test was done for 32 cases. There was significant positive correlation between serum testosterone levels before and after hCG stimulation test (p <0.001). Similarly, significant correlation was identified between basal AMH and testosterone increment after hCG stimulation (p <0.001) and between basal levels of AMH and inhibin (MCp= 0.025). Conclusion: Single measurement of basal AMH and/or inhibin B can detect the presence and function of testes by a reliable non-invasive way. Basal AMH assessment is an important tool to distinguish between cryptorchidism and anorchia. hCG test is needed in the work-up of patients with inconclusive results.