Endocrine Abstracts

Subcutaneous fat necrosis (ScFN) of the newborn is an uncommon self-limiting panniculitis, often associated with a complicated delivery. Hypercalcaemia can be a major complication, usually occurring within the first 6 months of birth and this may result in irritability, constipation, nephrocalcinosis, seizures and sometimes even death. Treatment options are variable with a number of different regimens including intravenous fluids, loop diuretics, prednisolone and bisphosphonat...

Introduction: Adrenal hypoplasia congenita (AHC) is often difficult to differentiate from congenital adrenal hyperplasia in the early stages of life. Both can present with severe salt-losing crises, and in some cases, even sudden, unexpected death. In particular there tend to be no abnormalities of the genitilia in AHC thus delaying a possible diagnosis. In the autosomal recessive form of AHC, the absence of a recognised single gene mutation can cause significant difficulties ...

Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating. The quality of information provided at diagnosis is variable, and there are few support groups they can turn to. Many seek information online before meeting a paediatrician.Methods: The British Thyroid Foundation in conjunction with our r...

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: 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...

Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.Patients and methods: Five hundred and twenty children and adolescents with GD have been referred at the time of reporting to the two...

Introduction: Improved survival following treatment for paediatric medulloblastomas has resulted in increased incidence of late effects, particularly endocrine sequelae. The complete picture of late effects, however, has been limited by short duration of follow up.Aims 1: To establish the evolution of endocrine sequelae in patients treated for medulloblastomaAim 2: To compare the prevalence of endocrine dysfunction among three majo...

Introduction: The prenatal treatment of Congenital Adrenal Hyperplasia (CAH) with Dexamethasone (Dex) is effective at minimising virilisation in affected females. Treatment is initiated with Dex at 20 mcg/kg per day (max 1.5 mg/day) as soon as pregnancy is confirmed and continued to term in affected females only. There are concerns regarding neurocognitive difficulties in children exposed to prenatal Dex, but no reports of late intra-uterine deaths (IUD) attributed to prenatal...

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...