Endocrine Abstracts

Introduction: Acute renal failure (ARF) is a rare but life-threatening complication of severe diabetic ketoacidosis (DKA) in children.Aim: To characterise the presentation, treatment and clinical course of children with DKA complicated by severe ARF requiring renal support.Method: Retrospective notes review of patients aged <16 years admitted in 2011–2016 to 3 UK regional paediatric intensive care units (St George’s H...

Introduction: Paediatric obesity is a growing concern for the health service. There is currently no consensus for routine screening of metabolic profiles and medical treatment in obese paediatric patients.Aims/methods: We aimed to determine medium-term outcomes of Metformin treatment on BMI, glucose and insulin levels in obese paediatric patients. In a retrospective review, data were collected from obese paediatric patients on Metformin for insulin resis...

Introduction: There is limited data on the psychological sequelae of obesity in paediatric patients.Aims/methods: We aimed to assess the prevalence of psychological comorbidities in obese paediatric patients. Internationally validated self-report questionnaires were offered to 19 patients and their parents from a tier three paediatric obesity clinics. These included the Paediatric Index of Emotional Distress (PI-ED); Beck Youth Inventory exploring self-p...

Background: Harrington et al.1 suggest that basal LH of ≥0.3 IU/l as measured by ICMA (Immulite 2500) has 100% specificity and 90.5% sensitivity in identifying progressive central precocious puberty (CPP).Aims: To examine the utility of basal LH measured with the DELFIA assay for identifying CPP in girls.Methods: All girls under age 9 years (median 7.3 years) investigated for precocious puberty with a GnRH...

Background: The standard dose Synacthen test (SDST) is commonly used to identify glucocorticoid deficiency. A subnormal SDST in young infants raises the possibility of adrenal insufficiency (AI) due to pathology such as congenital adrenal hyperplasia (CAH). A physiological delay in maturation of adrenal glucocorticoid secretion may be another explanation especially in asymptomatic infants with a transiently subnormal SDST.Aims: To review the diagnoses an...

Adrenal insufficiency (Adr-I) and congenital adrenal hyperplasia (CAH) are important conditions requiring specialist attention and management. Recent CAH genotype–phenotype studies have linked mutations with enzyme functioning and disease severity. Accurate diagnosis for the cause of adrenal insufficiency and the genetic cause of CAH is vital as it impacts management and prognosis.Methods: We audited patients with Adr-I and CAH seen in outpatients f...

Background: 3-M syndrome is associated with severe proportionate pre- and postnatal growth restriction, and is caused by mutations in CUL7, OBSL1, or CCDC8 genes.Aims and methods: To define baseline growth and GH–IGF1 axis status as well as response to r-hGH in relation to mutation status in 3-M children, using retrospective analysis of data from clinical notes.Results: 50 individuals (19 CUL7, 19 <...

Introduction: Turner syndrome (TS) is caused by the absence of all or some of the second sex chromosome. Consequences include short stature and ovarian failure. This study aimed to characterise karyotype-phenotype correlation in patients with TS.Methods: This was a retrospective audit of TS patients from the young person’s endocrine clinic (YPC). The karyotype, final height, pubertal progress and treatment were recorded for each patient and outcomes...

Prader-Willi syndrome (PWS) is a rare genetic condition characterised by hypotonia, early feeding difficulties, hyperphagic obesity, hypogonadism and short stature; with an incidence between 1/15 000 and 1/25 000 live births in the UK. It is caused by failed expression of paternally inherited genes in the imprinting region of chromosome 15q11.2–q13. Recombinant human GH (rhGH) is the main pharmacological treatment used in PWS.Aims: We aimed to revie...

Introduction: Factors determining remission and relapse in children with thyrotoxicosis include ethnicity, age and thyroid hormone levels at diagnosis. We investigated if similar factors influence remission and relapse in a contemporary cohort of children with autoimmune thyrotoxicosis treated by dose titration of carbimazole.Methods: Forty-seven children (39 females) with thyrotoxicosis, treated with carbimazole, were followed up for ≥2 years. Ini...