Searchable abstracts of presentations at key conferences in endocrinology

ea0051p013 | Adrenal | BSPED2017

Two neonates with foetal adrenal haemorrhage in a tertiary care centre

Sharma Anu , Smit Elisa

Introduction: Foetal adrenal haemorrhage is relatively rare with a reported incidence of 0.2% in neonates. We share our experience of two neonates who were diagnosed to have adrenal haemorrhage in our centre over last 5 years. We also carried out a retrospective review of literature on existing evidence regarding diagnosis and evaluation of neonates with adrenal haemorrhage.Methodology: Two neonates with confirmed adrenal haemorrhage were identified from...

ea0058p039 | Thyroid | BSPED2018

Isolated central congenital hypothyroidism (CCH) due to (Immunoglobulin SuperFamily member 1) IGSF-1 gene deficiency

Sharma Anu , Narayan Kruthika , Scurr Ingrid , Warner Justin , Burren Christine P

Introduction: Central congenital hypothyroidism (CCH), undetected by TSH-based NewbornScreening, occurs from TSH synthesis or secretion defects. An extremely rare (<1:100,000) cause concerns the recently described ImmunoGlobulinSuperFamily member 1 (IGSF1) gene, critical in TSH biosynthesis. These 2 infants highlight intriguing clinical features.Case-1: Term male (BW 3.95 kg) with poor feeding and persistent jaundice (max bilirubin 362 umol/l) despit...