Endocrine Abstracts

Introduction: Hartsfield syndrome (#OMIM 615465) describes the rare co-occurrence of holoprosencephaly with ectrodactyly, associated with a spectrum of developmental defects including specific pituitary dysfunction.Case report: Our patient, a male infant, had several congenital abnormalities: bilateral cleft lip and palate, right sided microtia, bilateral ectrodactyly of the hands and feet and semilobar holoprosencephaly. Aged 5 weeks he was noted to be ...

Introduction: Hyponatraemia presents a diagnostic challenge in acute medicine. Suggestive symptoms may be present or it can be an incidental finding. Whether it is acute or chronic, associated with excessive, normal or reduced intravascular volume all help determine cause and correct management.Case report: A six-year-old boy with a good neurological outcome from extreme hyponatraemia (initial sodium 96 mmol/l) caused by autoimmune hypoadrenalism. He pre...

Background: 50% of patients with osteogenesis imperfecta (OI) will have dental involvement of some degree including dentinogenesis imperfecta and a severe malocclusion. OI is the most common inherited disorder of bone fragility in children, increasing fracture risk 100-fold.Aim: To assess the utilisation of tertiary dental services by children and young people with OI attending a supra-regional multidisciplinary OI service and review of the pathology ide...

Background: Estimates for the prevalence of SHOX mutation in children with short stature vary from 2 to 15%. Unless specific clinical and radiological signs are sought these patients can be misdiagnosed as idiopathic short stature. An evidence based clinical scoring system has been published to identify these patients; more recently characteristic radiological signs have also been identified in bone age X-rays. To our knowledge there has not been a survey in the UK ev...

Introduction: Two childhood cases of somatotroph pituitary adenomas caused by aryl hydrocarbon receptor interacting protein (AIP) mutations highlight the importance of screening for familial isolated pituitary adenoma (FIPA) genes and wider family implications.Case 1: A 13.5-year-old girl presented with 5 years growth acceleration and size ten feet, with no headache or visual disturbance. Examination: coarse facial features, large hands and feet...

Background: Diabetic retinopathy is a frequent cause of vision loss in young adults. NICE guidelines require services to offer annual retinal screening to all diabetic children aged ≥12 years. A local 2009–2010 audit identified 57% underwent screening but only 16% had results documented with the paediatric diabetes service, both areas requiring improvement. In 2011, the paediatric diabetes service formulated a standard operating procedure with the eye-screening prog...

Introduction: Disorders of sex development (DSD) may present in the newborn as ambiguous genitalia. Gender determination and diagnosis must occur as quickly as possible to minimise parental distress. Aim: to evaluate the initial care of babies born with DSD, and identify areas for improvement.Methods: Detailed assessment of 14 neonatal presentations at a tertiary centre between 2012 and 2014 was undertaken. Based on local trust guidelines, several parame...

Introduction: Chromosome 18 rearrangements are postulated to be associated with short stature, of uncertain pathophysiology.Methods: Retrospective case review (short stature with chromosome 18 rearrangement), investigation for GH deficiency (peak GH <7 μg/l on glucagon or ITT, unless otherwise indicated) and determining response to GH treatment.Results: In 13 year six such cases were referred from the geneticists, mean ref...

Hypothyroidism presents diagnostic challenges when occurring in an extremely unwell infant with hepatoblastoma. This case indicates a possible link between Beckwith–Wiedemann syndrome (BWS) and severe hypothyroidism.Antenatally, the baby had polyhydramnios and an abdominal mass. After normal vaginal delivery at 38+4 weeks, examination showed macrosomia (4007 g) small nose, low set ears and inverted V-shaped mouth. Transient hypoglycaemia on day 1 re...

Background: Burosumab (a monoclonal antibody inhibiting elevated FGF23 activity) targets the pathophysiology of XLH better than conventional phosphate and activated Vitamin D and shows encouraging research findings. Whilst marketing authorisation underway, enrolment into a Named Patient Scheme was possible. Delivery of new treatment modalities can present practical challenges. We report our experience of initiating the first UK cohort.Methods: Seven pati...