Endocrine Abstracts

Background: Using small for gestational age (SGA) as a surrogate for fetal growth restriction, previous studies link adverse intrauterine environments to greater cardiometabolic risk. However, a fetus may undergo suboptimal fetal growth (SFG) without being SGA. The Manchester BabyGRO Study focused on recruiting pregnancies at greater risk of SFG, including pregnancies with low PAPP-A, where a pattern of reduced skeletal growth has been described(1). Associatio...

Background: Using small for gestational age (SGA) as a marker for fetal growth restriction (FGR), studies link an adverse intrauterine environment to cardiometabolic risk markers in childhood. Focusing on 3–6 year old children, where the majority were born following pregnancies at greater risk of suboptimal fetal growth (SFG) but only a minority were born SGA, cardiometabolic risk markers were measured and blood samples collected for metabolomic analysis....

Background: Inherited metabolic disorders (IMDs) are a group of heterogenous genetic disorders resulting in substrate accumulation, energy deficiency or complex molecular defects due to the failure of specific molecules to act as enzymes, cofactors, transporters, or receptors in specific metabolic pathways. The pathophysiological changes seen in IMDs sometimes impact on the endocrine system. We here describe our experience at one UK centre where patients are seen jointly by an...

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: Many children with short stature (defined as height SDS <−2 S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age (SGA) or idiopathic short stature (ISS) depending on birth size. Adult height is a polygenic trait and has been associated with >180 single nucleotide polymorphisms (SNPs) to date. We hypothesized that sequence variants (SNPs or insertion/deletions (indels)) in cand...

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 <...