Endocrine Abstracts

Constitutional delay is a common presentation to paediatric endocrine clinics. Most are boys who have been at the bottom of the normal range for height during childhood and then started to feel left behind as their peers develop in puberty. There is no agreed cut off age but most boys referred are 13–15 years old. Most boys with delay of puberty are healthy, although there is an association with chronic medical conditions (eg inflammatory bowel disease, juvenile rheumatoi...

Diabetes which is not type 1 or type 2 makes up a very small proportion of all diabetes cases in children and adolescents. The value of recognising these is that treatment and outcome can be very different from that seen in type 1 or 2.Other forms of diabetes can be divided into several groups: 1. Genetic diabetes including MODY and neonatal diabetes. MODY can be confused with type 1 diabetes in children. Making the diagnosis can b...

Objectives: Many paediatric diabetes units in the UK have introduced 24 h telephone support to encourage self-management to reduce Emergency Department (ED) attendances and admissions. The UK national audit collects information on acute paediatric diabetic admissions; but there is no data available on ED attendances in this group. We undertook a retrospective audit of ED attendances as part of a baseline service evaluation of our newly introduced 24 h support service.<p cl...

Introduction: Anterior pituitary cells are characterised by functional lineages based on the expression pattern of transcription factors. Functional differentiation in the form of pituitary adenomas co-secreting ACTH and growth hormone is very rare. We report a case of multiple cell line pituitary adenoma resulting in acromegaly and ACTH dependent Cushing’s.Case: A 52-year-old woman of Ghanian origin (BMI of 57.5 kg/m2) presented with pro...

Introduction: In August 2015, the British Society for Paediatric Endocrinology and Diabetes (BSPED) released new guidelines for the management of DKA. These new guidelines recommended a much more conservative approach with fluid management in order to reduce the risk of cerebral oedema.Aim: Based on local anecdotal evidence, we hypothesized that with the new guidelines, we have had to increase maintenance fluid infusion rates more often and that the chil...

Silent corticoptroph adenomas (SCA) are pituitary tumours positive on immunohistochemical staining for ACTH but without clinical evidence of hypercortisolism. They account for 1.1–6% of surgically removed pituitary adenomas. Most tumours are macroadenomas with suprasellar extension present in 87–100% of the cases. They present with mass effects and this is in contrast to Cushing’s disease, which is mostly attributed to microadenomas. Reports suggest that these t...

Background: Prader Willi Syndrome (PWS) is a disorder of genetic imprinting caused by uniparental disomy of chromosome 15. It can present in the neonatal period with dysmorphic features, hypotonia and feeding difficulties. In the UK, recombinant human Growth Hormone (rhGH) is licensed for use in PWS, improving body composition and motor development, as well as final adult height. Some studies have also demonstrated an improvement in respiratory function in children with PWS. T...

Background: Dumping syndrome in infants who have undergone gastrostomy or Nissens fundoplication is a recognised phenomenon. The pathogenesis is possibly due to a bolus feed causing an incretin effect and leading to hyperinsulinaemic hypoglycaemia. Continuous glucose monitoring (CGM) systems have not been used in the past to study this phenomenon. We report CGM findings which are almost identical on three such post surgical infants.Case series 1: a 36-we...

A 71 year old woman presented with visual loss. MR scanning demonstrated a massive invasive pituitary adenoma. She had no features of endocrine dysfunction. 0900hrs cortisol was 278nmol/L. Haemorrhage limited transphenoidal surgery to biopsies. Postoperative CSF leak was repaired 3months later. Histology revealed a corticotroph adenoma on immunostaining.At endocrine follow-up, afternoon cortisol was 645nmol/L, and 875nmol/L fasting, falling after glucago...

Background: Wolfram Syndrome (WFS) is a rare genetic progressive neurodegenerative disorder caused by mutation in the gene encoding Wolframin, a protein located in the endoplasmic reticulum. WFS has an estimated prevalence of 1 in 770 000.The hallmark features are Diabetes Mellitus, Diabetes Insipidus, Optic Atrophy, Deafness(DIDMOAD) and neurodegeneration. Classic WFS1 is inherited in an Autosomal Recessive manner whereas the Non-classic form is Autosomal Dom...