Endocrine Abstracts

Background: The GST is commonly used in children and adolescents for the diagnosis of growth hormone (GH) deficiency. Evidence supports the use of sex steroid priming to improve diagnostic accuracy in GH provocation tests. This project, undertaken on behalf of the BSPED Clinical Committee, aims to identify current practice and develop consensus in sex hormone priming and GST protocols for the development of standardised UK protocols.Method: (1) Audit of ...

Background: Neonatal hyperthyrotropinaemia (HT) is defined by elevated thyroid stimulating hormone (TSH) and normal free-thyroxine (FT4) level. Persistent HT in the neonatal period is often a diagnostic dilemma for clinicians to either treat to prevent subclinical hypothyroidism or to wait and monitor thyroid function tests (TFTs).Methods: As part of an audit, 1449 term infants who had TFTs undertaken as part of a prolonged jaundice screen from 2012&#150...

Background: Central diabetes insipidus (CDI) presents with various underlying diagnoses in children.Objective: To determine causes of CDI and long-term outcome in children and adolescents from a Tertiary Paediatric Endocrinology unit providing Regional Paediatric Neurosurgery and head trauma services.Methods: The clinic database was searched to identify patients with CDI managed between 1993 and 2019. Relevant clinical information ...

Background: Syndrome of Inappropriate Antidiuretic Hormone secretion (SIADH) is a well-recognized complication of intracranial tumours (ICT). Fluid restriction as treatment for SIADH is challenging in infants since it is coupled with calorie restriction. Moreover, it may conflict with chemotherapy-associated hyperhydration protocols. Existing evidence on the use of the type-2 vasopressin receptor antagonist (Tolvaptan) for refractory SIADH in infants and young children is limi...

Background: Recombinant human Insulin-like growth factor-1 (rhIGF-1) is the only treatment for short stature due to primary IGF-1 deficiency and related disorders. However, treatment needs meticulous monitoring for adverse effects, especially hypoglycemia, obstructive sleep apnoea (OSA), raised intracranial hypertension, cardiac complications and skin reactions.Method: To determine therapeutic potential, efficacy and safety of rhIGF-1 treatment, case not...

Background: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. Newer therapies such as Anti Fibroblast Growth Factor 23 antibodies (burosumab) have now become available. An important treatment goal is to heal rickets; assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: (1) Assess disease severity ...

Introduction: Although a number of studies have reported on the External Masculinisation Score (EMS) and have validated its use for numerical descriptions of the external genitalia, the methodology in these studies has not considered longitudinal changes in EMS.Objectives: To examine longitudinal changes in EMS in boys with XY Disorders of Sex Development (DSD) and determine the causes of these changes.Methods: All boys of confirme...

Background: Local guidelines for infants born to mothers with a history of thyrotoxicosis previously recommended that infants were observed in hospital until thyroid function tests were checked on day 4, with follow up on day 10, causing inconvenience to families and unnecessary cost to services. Following a literature search, our revised local guidelines recommend low-risk infants can be discharged on day 0 without follow up, stratified using maternal TSH-receptor antibody (T...

Background: Primary adrenal insufficiency (PAI) is a rare, genetically heterogenous condition, characterised by hypocortisolaemia and high plasma ACTH levels in the presence or absence of mineralocorticoid deficiency. PAI can be life-threatening if unrecognised, misdiagnosed or under/untreated. Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive form of PAI characterised by isolated glucocorticoid insufficiency. Mutations in the MC2R/ACTH receptor, ...

Background: Neonatal cortisol assessment is indicated in suspected adrenal insufficiency.Aims/objectives: Review of neonatal cortisol assessment within our Trust over seven years, to analyse trends, indications, outcomes; and relationships between gestational age (GA), birth weight (BW) and cortisol assessment.Methodology: From cortisol results on neonates (≤30 days age) between 2012–2018 (inclusive) we identified random...