ESPE Abstracts

Background: Virilizing congenital adrenal hyperplasia (CAH) is a complex disorder which requires a multidisciplinary approach. Exact timing of genitoplasty in children with virilization varies on the available resources, patients’ perspectives, and cultural influences. This study is aim ed to assess surgical interventions based on the degree of virilization in girls with congenital adrenal hyperplasia from a single center.M...

Thyroid hormone resistance (RTH) is a rare autosomal dominant genetic syndrome with a diminished response to circulating thyroid hormonesin target tissues. It has an incidence of 1:40,000-50,000, and equal sex distribution. Here we report a child with RTH, due to a mutation in THR β gene. 7 years and 5-month-old boy was referred due to thyroid hormone derangement. He was well until 3 years when he developed afebrile seizures and was on Na valproate. He was underg...

Introduction: Mutations of the SCN8A gene, which encodes a neuronal voltage-gated sodium channel are associated with an epileptic encephalopathy of varying severity and neurodevelopmental delay. A few cases are reported, where epileptic encephalopathy due to SCN8A mutations have been associated with multiple fractures and bone loss suggestive of juvenile osteoporosis.Case Presentation: Two girls, aged 19-months were refe...

Introduction: 45,X/46,XY mosaicism is rare difference/disorder of sex development(DSD) with an incidence of 1.7 per 10,000 newborns. Children with this type of DSD have varying phenotype of internal and external genitalia/ gonads, Turner-like features and increased risk of gonadal malignancy posing great clinical challenge.Case presentation: A 13-year-old girl was referred for primary amenorrhea. She had been investigate...