ESPE Abstracts

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

Iodine is an essential dietary micronutrient required for thyroid hormone synthesis and neurodevelopment in utero. Evidence of iodine insufficiency among British women is of particular concern in the context of pregnancy. The Mothers and Babies at Yorkhill (MABY) study is a Glasgow-based longitudinal cohort study assessing the iodine and thyroid status of pregnant women and their offspring.Pregnant women were recruited from antenatal clinics (20...

Introduction: Anti-thyroid arthritis syndrome (AAS) is a rare complication that may occur in patients treated with anti-thyroid drugs. Presentation is variable and may include myalgia, arthralgia, skin rash, high fever, and polyarthritis. Herein, we present a girl diagnosed with AAS. Case report: A 9-year-old girl was admitted to emergency complaining of fever and arthralgia. She was the second child of non-consanguineous healthy parents. She had been d...

Introduction: Multisystem inflammatory syndrome in children (MIS-C) is associated with Covid-19. MIS-C was first reported in April 2020 with similar symptoms to Kawasaki disease and has several treatment options, one of which is glucocorticoids.Autopsy studies in Covid-19 patients have shown degenerative adrenal changes.It has been reported that rarely Covid-19 may affect adrenal function and cause both primary and secondary adrenal insufficiency.Here we prese...

Background: The recommended capillary TSH cut-off level for neonatal screening for congenital hypothyroidism (CH) in the UK is 10 mIU/l. However several of the regional screening laboratories have adopted lower cut-off limits in order to increase detection sensitivity. There is now pressure to standardise the UK screening programme with universal adoption of the recommended cut-off. Scotland has been using a cut-off of 8 mIU/l since the adoption of AutoDELFIA TSH screening met...

Introduction: Barakat syndrome, also known as HDR syndrome (OMIM 146255), is a clinically heterogeneous, rare, autosomal dominant genetic disorder, characterized by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). The phenotypic features are attributed to mutations of the GATA3 gene, which encodes a transcription factor essential for embryonic development of the parathyroid glands, auditory system, and kidneys. Here, we report...

Background: Up to 20% of infants referred on newborn congenital hypothyroidism (CH) screening are subsequently shown to have transient TSH elevation rather than permanent CH. Correct identification of such cases is important to avoid prolonged treatment with thyroxine and unnecessary clinic attendance.Objective: To determine the prevalence, trends and profile of infants with transient TSH elevation referred between August 1979 and December 2015 by the Sc...

Introduction: Co-existence of congenital hypopituitarism and congenital hyperinsulinemia is extremely rare. We present a case of congenital hypopituitarism and hyperinsulinemic hypoglycemia with a novel FOXA2 mutation.Case: A 22-month-old girl was referred to pediatric endocrinology due to short stature. She was the first child of healthy, non-consanguineous parents with no relevant family history. Delivery was by cesarean secti...

Introduction: Graves' disease is the most common paediatric cause of hyperthyroidism. Although hyperthyroidism has been reported to cause a decrease in bone mineral density (BMD), its association with recurrent bone fractures is extremely rare.Case: A 10-year-old male patient, who had a pre-existing 7-year diagnosis of autism spectrum disorder, presented to emergency with right leg pain that started after collision with an armchair. On initial exami...

Introduction: Insulin regulates the activity of lipoprotein lipase, the enzyme responsible for triglyceride metabolism. Although mild hypertriglyceridemia is seen in diabetic patients, severe hypertriglyceridemia (>1000 mg/dl) is extremely rare in the pediatric population. We present a case of co-existence of new onset diabetic ketoacidosis (DKA) with severe hypertriglyceridemia, together with therapeutic outcome.Case: A 9-year-old, ...