Endocrine Abstracts

Congenital hypothyroidism (CH) occurs due to dysgenesis or dyshormonogenesis of the thyroid gland. Newborn screening for CH was introduced in the UK over 30 years ago and has almost eliminated the severe intellectual deficits caused by the deficiency of thyroxine to the developing brain. The recognised incidence of CH increased immediately post introduction of screening due to the improved detection and diagnosis of cases. However, further increases in the incidence of CH have...

Introduction: Insulin requirements change with age, in part related to changes in Growth Hormone secretion. Little is known of the impact of age on the circadian variation in insulin secretion. We have studied changes in insulin basal rates as a proxy for insulin sensitivity in CYP with well controlled T1DM.Methods: Insulin pump settings for total daily dose (TDD) and sensitivity ratio were obtained from 22 CYP with T1DM. Basal insulin requirements were ...

Introduction: Neonatal thyrotoxicosis is rare and occurs with transfer of Thyrotropin Receptor Antibodies (TRAb) across the placenta in a mother with a history of Grave’s disease. The neonatal mortality rate can be as high as 20%, usually secondary to cardiac failure. Therefore prompt diagnosis and treatment is essential.Methods: We report a series of seven infants with neonatal thyrotoxicosis seen in the Endocrine clinic between 2011 and 2015. Mate...

Newborn screening of premature infants for congenital hypothyroidism (CH) may initially be normal despite the presence of thyroid pathology and therefore repeat TSH screening is required. The 2012 revised UK Newborn Screening guidelines for premature infants state that infants born <32 weeks gestation require a repeat TSH bloodspot at 28 days postnatal age or discharge home, whichever is earlier. Prior to this, repeat testing was required at 36 weeks corrected gestation fo...

Introduction: Vein of Galen (VoGM) is a rare intracerebral vascular anomaly which may be detected on antenatal imaging or present in the neonatal period with secondary cardiac failure. A potential association with congenital hypothyroidism was examined.Investigation: Between the seven months of October 2015 and May 2016 six infants with VoGM were treated at our tertiary centre. Three (50%) were also referred through Congenital Hypothyroidism (CHT) Newbor...

Background: Hypothyroidism, a common condition, manifests with diverse clinical symptoms and is generally manageable but can be life-threatening if untreated in severe cases. It has been recognized as an uncommon cause of renal impairment and rhabdomyolysis; conditions reversible with levothyroxine replacement therapy. Here, we present the case of a teenager incidentally diagnosed with severe primary hypothyroidism due to autoimmune thyroiditis, accompanied by acute kidney inj...

Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which often arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrine abnormalities previously associated with this disorder include idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. We describe the endocrine features and associated radiological find...

Introduction: It has been documented that autoimmune thyroiditis (AT) predisposes to the development of papillary thyroid cancer (PTC). The presence of chronic inflammation was thought to act as an initiating factor in carcinogenesis. Moreover elevated levels of TSH found in hypothyroid patients with AT were speculated to stimulate follicular epithelial proliferation and thereby promote the development of PCT.Case: We describe a case of two sisters aged ...

Cystic fibrosis related diabetes (CFRD) is the commonest co-morbidity in CF leading to increased mortality rates. The pathophysiology includes pancreatic fibrosis, reduction in α and ß-cell mass, delayed insulin secretion and variable insulin insensitivity. Insulin production can fluctuate with progression over time to an insulinopenic state. We report two cases of young people with CFRD with high insulin requirements, poor glycaemic control and improvement with the ...

Introduction: Neonatal biochemical screening programmes for congenital hypothyroidism (CH) allow early diagnosis and treatment of infants with CH, thereby efficiently preventing mental retardation. The purpose of the study was to assess the predictive role of Tc-99m pertechnetate thyroid scintigraphy in differentiating between transient and permanent hypothyroidism in neonates with borderline TSH results (6–19.9 μ/l) at the screening.Methods: A...