Endocrine Abstracts

Introduction: Children with Down syndrome (trisomy-21/T21) are at risk of developing congenital and early (diagnosed ≤1 year) hypothyroidism. Our current monitoring follows the Down Syndrome Medical Interest Group (DSMIG) guidance: performing thyroid function tests (TFT) at birth and 12 months.Aims/objectives: 1) Determine the incidence of congenital/early hypothyroidism in babies with T21 and determine long-term thyroid function outcomes (by age 4...

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...

Introduction: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant neuroendocrine neoplasia syndrome characterised by early onset medullary thyroid carcinoma (MTC) in all patients, phaeochromocytoma and multiple extra-endocrine features. We present a case of late diagnosis of MEN2B illustrating the challenge of early diagnosis.Case report: A 12 year old boy presented after lifetime of investigation. There was no relevant family histo...

Introduction: Thyrotoxicosis, the commonest cause of which is Graves’ disease, is rare in childhood and adolescence.We report a consecutive series of patients referred to a single tertiary paediatric endocrine centre over 5 years.Methods: Retrospective case note and database review of patients referred 01/2013–02/2018.Results: 27 patients (21F) with Graves’ disease in 21, and Hashitoxicosis in 6. During the same peri...

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide. Incidence of iodine deficiency may be rising due to usage of vegan diet.Case presentation: We present siblings aged 2.5 years boy and 6 years old girl from family who are strict vegans. Both children have been on vegan diet since birth. Boy attended hospital urgently due to significant concerns about hypothyroidism. His TSH level 2 months before admission was 187...

Introduction: Maternal thyroid disorders influence neonatal thyroid status. Neonatal thyrotoxicosis (NT) is a potentially fatal condition with high risk in those with clinical signs, high or unknown maternal thyroid receptor antibody (TRAb) status and where mother is clinically hyperthyroid or on treatment. The aim of post-natal management of these babies is to identify those at risk of NT and monitor them. There is, however, no available national or international consensus.</...