Endocrine Abstracts

Background: Previous studies show poor consensus on the use of GH stimulation tests. Sex steroid priming and re-testing in the transition period are areas not previously surveyed. In light of more recent guidance and expert opinion, this survey aims to analyse the diagnostic processes employed in the diagnosis of GH deficiency (GHD) in the UK.Methods: Data were collected from tertiary paediatric endocrinologists, paediatricians with a specialist interest...

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...

Introduction: Neuropsychiatric manifestations are well recognised in patients with primary hyperparathyroidism (PHP). Abnormal calcium channel physiology has been implicated in several pain disorders. The psychopathology emerges after prolonged subclinical hypercalcemia, but there is poor correlation with symptom severity. We report the complex management of two adolescents with PHP, secondary to parathyroid adenoma (no predisposing germline mutation identified), with persiste...

Introduction The endocrine assessment of children with Duchenne muscular dystrophy (DMD) can be necessary for management of osteoporosis, delayed puberty, obesity, adrenal insufficiency, and short stature. With ongoing implementation of the international standards of care for DMD, referrals to our Metabolic Bone Clinic (MBC) increased beyond its capacity, impacting patient care. The neuromuscular and endocrine departments implemented a new referral pathway and Multidis...

Introduction: Bardet-Biedl Syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000–160,000, caused by mutations across >20 known genes encoding for proteins responsible for primary cilium/basal body complex integrity. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been reported; howe...