Endocrine Abstracts

Introduction: McCune Albright syndrome (MAS) is characterised by at least 2 of 3 features: polyostotic fibrous dysplasia (FD), café-au-lait skin pigmentation and autonomous endocrine hyperfunction. Growth hormone excess if present (GH) can worsen symptoms of FD.Case report: A 3 year old girl presented with vaginal bleeding. A single café-au-lait patch was present (3 cm). A diagnosis of MAS was made, with a c.601>T mutation found in the GNAS...

Background: Patients with isolated growth hormone deficiency (GHD) will routinely have an MRI scan of the pituitary and brain to assess pituitary size and presence of any intracranial lesions. The result may change the threshold for monitoring for further hormone deficiencies. However the test may also detect unexpected or unrelated abnormalities.Aim: To review the incidence of normal and abnormal MRI scans in children with a diagnosis of isolated GHD.</...

Introduction: Osteonecrosis is an increasingly common complication in young people treated for acute lymphoblastic leukaemia (ALL). This is likely to be due to the now universal use of high dose steroids.Aim: The aim of this study was to obtain information on prevalence, current UK management and long-term outcomes of patients.Methods: We retrospectively collated data on patients with osteonecrosis for the most recently completed t...

Introduction: An important part of diabetes management is maintaining high standards of in-patient care. A previous audit in the south of England demonstrated difficulties consistently achieving standards identified as good practice. This audit aimed to identify current standards of in-patient care provided to children with type 1 diabetes across the Yorkshire and Humber region.Methods: The audit was conducted against in-patient care standards identified...

Introduction: Steroidogenic factor-1 (SF-1) is encoded by the NR5A1 gene on chromosome nine and is a nuclear receptor involved in adrenal and gonadal development and differentiation. There is wide phenotypic variation in individuals with NR5A1 mutations, but little is known about the natural course of patients during puberty. This study reports the case of a phenotypical female who showed profound virilisation at puberty due to a mutation in the NR5A1 gene.<p class="abstex...

Introduction: Children with Laron’s syndrome have a classical phenotype which includes extreme short stature and mid facial hypoplasia. It is biochemically characterised by high levels of GH and very low IGF1 levels. These children fulfil the criteria for recombinant IGF1 (rhIGF1, Mecasermin) therapy, however this has to be balanced with possible side effects. This study looked at the short term efficacy and safety profile of six children (five males) with Laron’s sy...

Introduction: The destination of young people referred from the NHS Gender Identity Development Service (GIDS) to the two paediatric endocrine centres covering England and Wales has not been analysed previously.Methods: 1151 young people identifying as gender variant were referred from GIDS for an endocrine opinion: 827 patients to University College London Hospital (UCLH) from 2008; 324 to Leeds Children’s Hospital (LCH) from 2013. Outcomes were no...

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...

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...