Endocrine Abstracts

Background: Cystic lymphangiomata are rare benign tumours of childhood resulting from an abnormal development of the lymphatic system, most of which occur in the head and axillary region, referred to as cystic hygromas. Lymphangioma arising in the abdomen are particularly rare and the symptoms are variable. They usually affect boys and can be associated with specific genetic abnormalities, most notably Turners syndrome.Case: We report the case of a 14-ye...

Objectives: 1) When and how to investigate rarer causes of short stature. 2) Evidence for interventions to improve growth in metaphyseal chondrodysplasia, Schmid-type (MCDS).Background: The incidence of skeletal dysplasia is one in 5000, however individually these conditions are rare and prognosis unclear. There is genotypic and phenotypic heterogeneity and no current consensus on classification, which may include clinical, radiographic, molecular or his...

Background: Pseudohypoparathyroidism type 1a (PHP1a) is a rare disorder caused by a maternally inherited mutation in the GNAS gene. PHP1a is usually diagnosed in childhood due to a distinctive phenotype that includes short stature, brachydactly, ectopic ossifications, and multi-hormone resistance. These features are associated with resistance to parathyroid hormone (PTH).Case: We report the case of a 3.4-year-old boy who presented with a general...

Background: CYP11B2 encodes a steroid 11/18-β-hydroxylase that functions in mitochondria in the zonaglomerulosa of the adrenal cortex to synthesize the mineralocorticoid aldosterone. The enzyme catalyzes three necessary reactions: 11-β-hydroxylation of 11-deoxycorticosterone (11-DOC) to corticosterone, 18-hydroxylation of corticosterone to 18-hydroxycorticosterone (18-OHB); and 18-oxidation of 18-hydroxycorticosterone to aldosterone. Aldosterone synthase (<e...

Background: Prader Willi Syndrome (PWS) is a disorder of genetic imprinting caused by uniparental disomy of chromosome 15. It can present in the neonatal period with dysmorphic features, hypotonia and feeding difficulties. In the UK, recombinant human Growth Hormone (rhGH) is licensed for use in PWS, improving body composition and motor development, as well as final adult height. Some studies have also demonstrated an improvement in respiratory function in children with PWS. T...

Introduction: The current estimate of prevalence of type I diabetes in children under 15 years in England and Wales is 187.7 per 100,000, with an estimated 31,500 children with diabetes under 19 years. It is a condition that is becoming increasingly common with 28.2 per 100,000 new diagnoses each year. Increasingly, management of these children is led by children and young people diabetes(CYPD) multi-disciplinary teams(MDT). As a result, despite better outcomes in diabetes car...

Background: Children with HbA1cs in target within the first year of diagnosis of diabetes show tracking of future results1 and experience fewer long term complications.2 This phenomenon is called ‘metabolic memory.3 HbA1C depends on a combination of patient factors and quality of care offered by the team (intensive insulin, communication, and support). We hypothesized that well managed, supported, patients should achieve target HbA1cs at l...