ESPE Abstracts

Background: 46,XX gonadal dysgenesis is a rare condition linked to delayed puberty, absence of spontaneous pubertal development, and primary amenorrhea related to hypergonadotropic hypogonadism (Hh). External genitalia are typically female with no ambiguity. Although ovarian development is an active process with multiple gene involvement, the genetic etiology of this condition is usually unknown. DCAF17 has recently been implicated in the development ...

Objective: The systemic form pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized with defective sodium transport in many organ systems including kidney, lungs, colon, sweat glands and salivary glands. Homozygous or compound heterozygous loss-of-function mutations in the genes encoding amiloride sensitive epithelial sodium channel (ENaC) account for genetic causes of systemic PHA1.Case 1: Male patient presented with vomi...