Endocrine Abstracts

Hypoglycaemia is a one of the commonest presentation of an ill child. Hyponatraemia during illness is mostly presumed to be related to syndrome of inappropriate anti diuretic hormone secretion (SIADH). We would like to present an interesting case of hypoglycaemia and hyponatraemia.A four-year-old boy presented with a two-day history of intermittent fever, vacant episodes, and seizures. He was noted to be hypoglycaemic with laboratory glucose of 1.2 mmol/...

Autoimmune destruction of adrenal gland is rare in the paediatric population and can present in type 1 diabetic mellitus (TIDM). Patients with TIDM are routinely screened for Autoimmune hypothyroidism and coeliac disease. We would like to present an unusual case of hyponatremia in patient with TIDM due to simultaneous developments of both glucocorticoid and mineralocorticoid deficiency.Fourteen-year-old Type 1 Diabetic male presented with incidental pers...

Objectives: In April 2013 a new payment tariff was introduced to enable better funding and comprehensive provision of paediatric diabetes care. We aimed to assess if this new tariff and increased resources have improved glycaemic control in children with diabetes.Methods: This was a retrospective analysis of HbA1c, insulin requirements and BMI in all patients under the care of the paediatric diabetes team at a district general hospital for at least 1 yea...

Background: The Insulin Tolerance Test (ITT) is the gold standard for assessing pituitary function in adults, but used variably in paediatrics due to concerns of serious adverse events. Our aim was to assess the safety of ITT and identify factors associated with the hypoglycaemic response.Methods: We retrospectively collected the following data from patients who underwent ITT (n=122) under Paediatric Endocrinology from 2019-2021: demography, ant...

Background: Acid-labile subunit (ALS) protein plays a vital role in maintaining the serum IGF by prolonging the half-life of IGF/IGFBP binary complex. ALS deficiency due to IGFALS gene mutation results in primary IGF1 deficiency and associated with growth impairment, insulin resistance and occasionally delayed puberty.Case report: A 9-year-old boy was referred for short stature (height −1.8 SDS and weight −1.8 SDS). He is the sixth of non-con...

Retrospective data collection was performed for all of the paediatric vitamin D (25-hydroxycolecalciferol) serum samples analysed over the preceding 13 months. Around 300 requests were made for vitamin D sampling by various medical professionals including paediatricians (72%), general practitioners (13%), and orthopaedic surgeons (16%). 231 samples, costing £9 per sample, were analysed on 200 patients, predominantly for clinical indications such as growing pains, tubercul...

Introduction: Idiopathic hypogonadotrophic hypogonadism (IHH) with normal sense of smell is a complex and rare disease entity characterised by insufficient gonadotropin releasing hormone (GnRH) neuronal action on an intact hypothalamo–pituitary–gonadal axis. IHH has an incidence of 1–10 in 100 000 live births with a variable mode of inheritance and five-fold male predominance. Gene mutations have been discovered of which 10–40% of the familial cases are due...

Background: Children with HbA1cs in target within the first year of diagnosis of diabetes show tracking of future results1 and experience fewer long term complications.2 This phenomenon is called ‘metabolic memory.3 HbA1C depends on a combination of patient factors and quality of care offered by the team (intensive insulin, communication, and support). We hypothesized that well managed, supported, patients should achieve target HbA1cs at l...

Introduction: Less than 20% of congenital hypothyroidism (CH) has a known genetic aetiology; thyroid transcription factor mutations (PAX8, Nkx2.1, Nkx2.5, FOXE1) or biallelic TSHR mutations cause <5% of thyroid dysgenesis (TD), whereas mutations in genes mediating thyroid hormone biosynthesis (TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5, SLC26A4) account for most dyshormonogenesis cases. Increased CH frequency in consanguineous populations, relatives of ...

Background: Lower cut-offs in TSH screening have doubled the incidence of congenital hypothyroidism (CH), particularly cases with an eutopically-located Gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes, or the thyrotropin-stimulating hormone receptor (TSHR) may underlie such cases, these genes have not previously been screened comprehensively in a GIS CH cohort.Study design: We evaluated the relative contribution and mole...