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...

The brain takes a primary position in the organism. We present the novel view that the brain gives priority to controlling its own adenosine triphosphate (ATP) concentration. It fulfils this tenet by orchestrating metabolism in the organism. The brain activates an energy-on-request system that directly couples cerebral supply with cerebral need. The request system is hierarchically organized among the cerebral hemispheres, the hypothalamus, and peripheral somatomotor, autonomi...

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...

A 51-year-old gentleman underwent a thyroidectomy 7 years ago for a benign multinodular goitre. Unfortunately, as a consequence of the surgery he became hypocalcaemic secondary to hypoparathyroidism. He was commenced on calcichew 1 tablet daily, calcium carbonate ‘500’ twice daily, vitamin D injections and 1- alphacalcidol 1 mcg daily. Initially, his PTH remained detectable and therefore it was hoped there would be some recovery, but over time this was proven not to ...

Selenium (Se) has been shown to capture radicals, one of which is oxygen originating from thyroxin-peroxidase (TPO) activity. Se supplementation to patients with Hashimoto’s resulted in a decrease of anti-TPO-titers and Se concentrations of ≥1.4 μmol/l have been proven to prevent deterioration of post partum thyreoiditis. Our group previously showed that in nonpregnant women with Hashimoto’s Se concentrations were decreased, and pregnant women have decreas...

Patients with acute intermittent porphyria (AIP) but not those with porphyria cutanea tarda (PCT) have a reported predominance in urine of 5 beta-reduced androgen metabolites over 5 alpha epimers. Steroids of 5 beta- androstane and pregnane types induce delta-aminolevulinic acid (ALA) synthase in chick embryos in vitro, so altered 5-reduction may predispose to attacks. We have comprehensively examined urine androgen and cortisol metabolites by gas-liquid chromatography and uri...

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...

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...