Endocrine Abstracts

Introduction: The ultimate goal of a diabetes transition service is to provide coordinated, uninterrupted and developmentally appropriate healthcare, which promotes skills in decision-making, communication, autonomy, and self-care, with an essential component required to achieve this, being adequate resourcing.Methods: Data from Yorkshire and South West London CYP diabetes networks were collected via questionnaire. The primary focus was to ascertain whic...

Introduction: An 18 day old term male baby presented with faltering growth and hyponatraemia. Extensive investigations suggested the cause of hyponatraemia was water excess which may result from either overproduction of Antidiuretic hormone (SIADH) or the nephrogenic syndrome of inappropriate antidiuresis (NSIAD). Genetic testing demonstrated a hemizygous mutation in the AVPR2 gene.Case report: The infant presented with 8% weight loss and hyponatraemia (...

Introduction: In the UK, GH therapy is licensed for use in GH deficiency, Turner Syndrome, Small for Gestational Age (SGA), Prader Willi Syndrome (PWS), SHOX deletion and Chronic Renal Failure (CRF). Worldwide there are a number of additional indications. The aim was to review the use of GH prescriptions in relation to indications and to evaluate if there were similarities or differences between the licensed and unlicensed groups.Methods: All children st...

Introductions: Gender Identity Disorder (GID) occurs when a person’s gender identity differs from their biological sex, causing distress (gender dysphoria). GID presenting in childhood can dissipate at puberty. If it persists, they may progress to physical interventions. This involves the use of a GnRH analogue (GnRHa) for one year followed by cross sex hormones.Methods: As part of the clinical assessments, adolescents have body composition measurem...

Background: In 2019, the International CAH Registry (I-CAH) performed a benchmarking exercise of acute adrenal insufficiency related adverse events including adrenal crises (AC) and sick day episodes (SDE).Methods: In 2022, I-CAH data on children aged <18 years at first visit with 21-hydroxylase deficiency CAH from 35 centres in 19 countries were analysed to examine the current occurrence of SDE and AC and compared t...

Aims: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.Result...

Background: The reported occurrence and management of acute adrenal insufficiency–related adverse events in children vary widely between centres and may depend on available resources.Methods: Real world data from the I-CAH Registry from 44 centres [32 from high income (HIC) and 12 from low/middle income (LMIC) countries] and a total number of 607 children were linked to the results of a health care survey of local r...

Background: The reported occurrence and management of acute adrenal insufficiency–related adverse events in children vary widely between centres and may depend on available resources.Methods: Real world data from the I-CAH Registry that included a total of 2478 patient years follow-up on 607 children from 44 centres were studied and their association to the results of a health care survey of these centres that enqui...