hrp0089p3-p282 | Multisystem Endocrine Disorders P3 | ESPE2018

Insight of Differential Diagnosis of DAX-1 from Two Patients with Elevated Testosterone in Early Infancy

Li Tang , Ge Juan

DAX-1 is Dosage-sensitive sex reversal - Adrenal hypoplasia congenita critical region on the X chromosome 1, caused by mutation of NR0B1. It commonly presents X-Linked adrenal hypoplasia congenital, hypogonadotropic hypogonadism and infertility. However, we observed two patients whose testosterone elevated in their early infancy. Both of them are males with uneventful gestation and birth, and have a primary symptom as jaundice. For patient 1, poor feeding and pigment genital a...