Endocrine Abstracts

Background: Congenital hyperinsulinism (CHI) is a disorder of unregulated insulin secretion causing persistent hypoglycaemia. In around 50% of the patients with CHI, the underlying molecular genetic etiology is unknown. Ca2+/calmodulin-dependent protein kinase 2 (CaMKK2) belongs to the Serine/Threonine protein kinase family. Alternative splicing results in multiple transcripts encoding distinct isoforms. We report, for the first time, CaMKK2 mutati...

Background: Hypertension (HT) is common in adults with Turner Syndrome (TS) but less is known about HT in children with TS.Aim: To determine the frequency of HT in girls with TS in West of Scotland and to assess its association with clinical characteristics. Patients and methods Retrospective cross-sectional analysis of 126 girls with TS in the West of Scotland, with at least 2 clinic blood pressure (BP) measurements in the preceding 12 months. HT was de...

Introduction: B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities and congenital heart defects. We describe for the first time, a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism and conge...

Background: Prader-Willi syndrome (PWS) is a rare complex genetic disease. Nutritional needs vary depending on life stage, ranging from growth faltering in infancy to obesity from late childhood. Dietetic care is a main pillar of the multidisciplinary team (MDT) approach for PWS management. National Children Hospital (NCH) is the main national centre for PWS in Ireland, with 47 children attending. We sought to explore growth and nutritional status in children with PWS.<p c...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. Autosomal recessive mutations in HADH gene are a rare cause of CHI. The advances in CRISPR/Cas9 gene editing technology has enabled the i...

Introduction: Pseudohypoparathyroidism Type 1a (PHP1a) is a rare disorder caused by mutation in GNAS, which encodes the alpha-subunit of the trimeric stimulatory G protein, Gsα, and links numerous G protein-coupled receptors (GPCR) to adenylyl cyclase. GPCRs are crucial for intracellular endocrine signalling, and since GNAS is expressed predominantly from the maternal allele in some tissues, maternally inherited loss of function GNAS mutations are associated with...

Introduction: Chiari-1 malformation (C-1M) is defined as the crowding of the craniocervical junction as a result of congenital cerebellar tonsil descent past the foramen magnum. Reported association between endocrine disorders and C-1M is mostly anecdotal.Aims: To evaluate the prevalence of endocrine disorders in C-1M against the prevalence of C-1M in those with isolated Growth Hormone Deficiency (GHD) with the aim of determining if there is a significan...

Introduction: A Patient Held Record (PHR) has been developed for use in adolescent girls with Turner Syndrome (TS) attending a dedicated Turner Transition clinic, RHC Glasgow. The PHR has been devised to encourage knowledge of TS; medcial care and ways to maintain good health and to promote self advocacy.Aim: To assess patient acceptability and user friendliness of a PHR in adolescent girls with TS.Method: A PHR and questionnaire w...

Introduction: Hypercalcaemia in Williams-Beuren syndrome (WBS) is usually mild and transient, but may be severe in about 5% of new presentations. Often some children will not respond well to traditional therapies.Case report: We describe three cases of acute hypercalcaemia and their management in a regional Paediatric unit. Case 1: A 16-month-old known WBS girl, presented with irritability, reduced feeding. Corrected serum calcium was 4.51 mmol/l. She wa...

Introduction: In 2009, the Turner’s Syndrome Support Society UK released a checklist for the management of Turner’s Syndrome patients. The aim of this audit was to evaluate how well we are doing as a Tertiary Paediatric endocrine unit in meeting these required standards of care.Method: We performed a retrospective audit in June 2016 of patients diagnosed with Turner’s Syndrome in our unit between 2007 and 2015 using the Electronic Care Rec...

Introduction: Klinefelter Syndrome (KS) is related to late puberty and infertility. Early puberty in KS is a rare occurrence; a case of early puberty in KS is presented.Case report: A 10-year old boy, diagnosed with KS (47,XXY) during investigations for learning difficulties, was referred to the endocrine clinic with a history of facial acne since the age of 8 years. His examination showed pubic hair (stage 3) with testicular volume 4–5 ml on both s...

Background: Cutaneous manifestations in children with type 2 diabetes mellitus is well known. We describe a child with background of poorly controlled type 1 diabetes mellitus who presented with cutaneous lesions posing a diagnostic challenge.Case: A male child BS, was diagnosed with type 1 diabetes mellitus at the age of 8 yrs. He subsequently developed coeliac disease. He had a background of extensive social problems and had been placed on child protec...

Introduction: Psychogenic polydipsia is a relatively uncommon condition characterized by overconsumption of water. It is known to be prevalent amongst psychiatric patients, but less common in the general population.Case report: A previously well 18-month-old girl presented to the emergency department in status epilepticus. There was no history of fever, recent weight loss, infection, trauma or any systemic medications. Post event questioning established ...

Chromosome 17q12 deletion is rare. It results from the deletion of a piece of chromosome 17 in each cell. The most recognised phenotype of this mutation is a combination of kidney cysts and Maturity Onset Diabetes of the Young (MODY), which is also known as Renal Cysts and Diabetes syndrome (RCAD). RCAD is caused by a mutation in the gene encoding hepatocyte-nuclear-factor-1-beta (HNF1B) which is part of chromosome 17q12.Introduction: In 1997 while study...

Introduction: Post-prandial hyerinsulinaemic hypoglycaemia (PPHH) or dumping is a recognized complication of various gastric surgeries. There are very few paediatric case reports to confirm PPHH post esophageal repair. We here report two cases who presented with dumping syndrome after a variable time period post esophageal atresia repair and response to medications.Case 1: A 6 month old female diagnosed with Wolf-Hirschhorn syndrome, born at 38+3 weeks b...

Introduction: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with hypothalamic damage. Its pathophysiology is incompletely understood, and is associated with hyperphagia and hyperinsulinaemia. We sought to compare the physiology of various appetite-regulating hormones in HyOb and ‘simple’ obesity.Methods: Oral glucose-stimulated serum insulin and plasma oxytocin concentrations, and fasting concentrat...