ESPE Abstracts

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...