Endocrine Abstracts

Disorders of sex development (DSD, previously termed intersex disorders) embrace a broad range of pathologies encompassing the undervirilised male, the virilised female, true hermaphroditism (defined by the presence of ovotestes) and sex reversal (e.g. 46XX male). For those infants born with genital abnormalities that make immediate gender assignment not possible, there is an urgent need for specialist input to achieve a diagnosis and develop a management plan. The DSD team wi...

Background: Approximately 1000 children per annum born small for gestational age (SGA) will fail to catch-up and become eligible for GH treatment. The reason for this failed growth is often not defined. Understanding mechanisms that cause growth failure in SGA and finding potential biomarkers of poor growth is therefore important. We are using the new technique of Metabolomics as one avenue to address this. Metabolomics is the quantification of small molecule metabolites in a ...

Background: IRS consists of ≥3 of the following components: obesity (BMI >98th centile), abnormal insulin glucose homeostasis, hypertension, dyslipidaemia. Elevated serum alanine aminotransferase (ALT) is a marker of NAFLD.Objective: To define the prevalence of IRS and NAFLD in obese children referred to our centre.Methods: subjects: mean BMI-SDS +6 (+0.6 to +14), median age 13.4 years (3–19), female 66%, British Asi...

3M syndrome is characterised by severe intra-uterine and post-natal growth failure. Patients have a characteristic triangular facial appearance and disproportionate short stature with tall vertebral bodies and over-tubulation of long bones. The condition bears some resemblance to the Russell Silver syndrome, but is transmitted as an autosomal recessive trait. It has been proposed that heterozygous carriers demonstrate mild phenotypic manifestations of the condition.<p clas...