Endocrine Abstracts

A 6 month boy with chronic vomiting and severe weight faltering (birth weight 50th to 75th centile dropped to 0.4th centile) originally attributed to gastro-oesophageal reflux was admitted after a period of poor urine output and found to have severe hypernatraemia (Na 168 mmol/l, K 4.1 mmol/l, Urea 16.2 mmol/l, Creatinine 54 umol/l) with high plasma osmolality (330 mosm/kg) and inappropriately low urine osmolality (130 mOsm/Kg). Renal USS was normal with slightly small kidneys...

Congenital adrenal hyperplasia (CAH) has an estimated prevalence of one in 10 000–20 000 live births. Patients are described as salt wasting (SW), simple virilising (SV), or non-classical (NC). The CAH genotype is usually compound heterozygous.Aims: To characterise the cohort of CAH patients presenting to a regional centre 1994–2014, to quantify the allelic frequency of CYP21A2 mutations and to examine genotype–phenotype associations.<...

Aim: To quantify difference in service provision for children and young people (CYP) living with CAH across the UK.Methods: A national service evaluation using online questionnaires circulated to patients and clinicians from secondary and tertiary UK centres managing CYP with CAH, and via the ‘Living with CAH’ support group mailing list.Results: Total of 195 responses rel...