Searchable abstracts of presentations at key conferences in endocrinology

ea0086cc1 | Featured Clinical Case Posters | SFEBES2022

Case report: a rare case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to heterozygous pathogenic GATA3 alteration

Shafiq Shahriar , Gohil Shailesh , Bhake Ragini , Reddy Narendra , Craft Emily , Lakhani Neeta , Levy Miles

Introduction: Hypoparathyroidism may be an isolated or a component of a complex syndrome. Although genetic disorders are not the most common cause, molecular analyses have identified a growing number of genes that when defective result in impaired formation of the parathyroid glands, disordered synthesis or secretion of parathyroid hormone.Case presentation: We are reporting a 37-year-old gentleman, who is the first adult case diagnosed at our University...