Endocrine Abstracts

(ENDOCRINE)Metabolic bone disease of prematurity (MBDP) occurs due to under-mineralisation of the preterm skeleton postnatally, as the baby misses the large amounts of mineral accretion that occurs during the third trimester, coupled with postnatal feeding regimes being unable to replicate this in utero mineral supply. Furthermore, postnatal risk factors such as reduced movements, parenteral nutrition and certain medications can worsen MBDP. If left unmanaged or mismanaged, it...

Although congenital hypothyroidism is sporadic in the majority, recessive and X-linked inheritance can also occur in monogenic disorders. In familial cases, the finding of genetic variation could identify specific phenotypes and unravel thyroid pathobiology.We describe three siblings born to non-consanguineous parents. The index case, a boy, presented at 1 year of age with severe developmental delay, expressive aphasia and hypotonia. Thyroid function sho...

Introduction: Metabolic bone disease of prematurity (MBDP) is a common condition in preterm and low birth weight infants, characterised by under-mineralisation of bone due to inadequate mineral supply, which can increase the risk of fractures. Screening is undertaken using biochemical markers, typically serum phosphate (PO4), alkaline phosphatase (ALP) and parathyroid hormone (PTH), although the objective clinical utility of these markers individually has not ...

Background: 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) is characterised by cortisol deficiency, androgen excess, varying degrees of virilisation and salt-wasting. CAH management involves replacement therapy with hydrocortisone, and, often, fludrocortisone. High levels of androgens cause the advancement of bone age (BA) with the potential to increase bone mineralisation. Hydrocortisone therapy on the contrary can contribute to reducing bone mineralisation. P...

Hypophosphatasia (HPP) is an inherited systemic metabolic bone disease occurring due to mutations in the ALPL gene which encodes for tissue-nonspecific alkaline phosphatase (TNSALP), resulting in defective bone mineralisation due to accumulation of inorganic pyrophosphate (PPi). The perinatal form of this condition lays at the most severe end of the spectrum. Enzyme replacement therapy with asfotase alfa, a recombinant fusion protein that includes the catalytic domain...

Introduction: Paediatric obesity is associated with significant long-term complications. This study investigated features of metabolic syndrome, non-alcoholic fatty liver disease (NAFLD) and obstructive sleep apnoea (OSA) aiming to establish their incidence and identify any predictive factors.Methods: A retrospective review of case notes was performed for children aged 2-16 years managed for investigation and management of obesity within a single tertiar...

Introduction: Congenital hyperinsulinism (CHI) typically presents in the neonate, however a minority of cases (~ 35%) present later in infancy and childhood. We report the challenging case of an older infant presenting with hypoglycaemia, diagnosed with CHI and managed entirely within a secondary care setting.Case report: A 9-month-old macrosomic (99th centile) infant presented to the Children’s Emergency Department with hypoglycaemia and a 1 week h...

Introduction: Hypoparathyroidism is typically managed with calcitriol/alfacalcidol. Close monitoring of serum calcium is required as under-treatment causes symptomatic hypocalcaemia while over-treatment will cause nephrocalcinosis. We report three cases who demonstrated resistance to treatment during an intercurrent illness, necessitating increase in medication doses and monitoring.Case series: Case 1: Two-month-old boy with newly diagnosed hypo...

Introduction: In August 2015, a revision of the BSPED-recommended guideline for the management of diabetic ketoacidosis (DKA) was published. A key difference from the previous guideline was a reduction in maintenance fluid rates, with the aim of reducing the incidence of cerebral oedema. Since implementation of these national guidelines, there have been reports within regional networks of an increased incidence in mild acute renal impairment and hypokalaemia. This retrospectiv...

Background: The 3 day human chorionic gonadotrophin (HCG) test is commonly performed to investigate male undervirilisation. However, the utility of routine HCG testing for male undervirilisation in early childhood and correlation with pubertal progress is unclear.Aims: To review performance of the 3 day HCG test for diagnosis and outcomes.Methods: Standard 3 day HCG test data were analysed in 130 boys of age <3 years with under...