Endocrine Abstracts

Introduction: Cranial Diabetes Insipidus (DI) presenting in children beyond infancy is most commonly associated with sellar/suprasellar tumours and severe traumatic brain injury or haemorrhage. Less frequent causes may be genetic or idiopathic. Exceptional cases may be associated with minor head injury. We present a case of post-concussive head injury with DI, and anterior pituitary hormone deficits.Case: 15 year old malesustained a concussive head injur...

Background: Cystic fibrosis related diabetes (CFRD), a common complication of CF, contributes to increased morbidity and mortality and is a poor prognostic indicator. Whilst liver transplant is a well-established treatment for end stage liver disease (ESLD) in CF, there are few reports of simultaneous pancreatic transplant in the paediatric population. We report the nutritional and endocrine outcomes of two adolescent CF patients who underwent combined liver and pancreas trans...

Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease. The clinical heterogeneity may range from mild subtle hypoglycaemia to severe life threatening hypoglycaemia. The commonest genetic cause of congenital hyperinsulinism are mutations in the genes ABCC8 and KCNJ11 encoding the two subunits (SUR1 and Kir6.2 respectively) of the pancreatic β-cell KATP channel. In the Ashkenazi Jewish population two founder mutation...

Background: Patients receiving triazole antifungals can present with hypertension and hypokalaemia. These drugs are reported to cause variable inhibition of the steroidogenic enzymes 11β hydroxylase and 11β hydroxysteroid dehydrogenase type 2 (11βHSD2). The ensuing clinical picture is similar to congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency or apparent mineralocorticoid excess (11βHSD2 deficiency), with posaconazole and itracon...

Introduction: Duplications of the SOX3 gene at Xq27.1 are known to be associated with a spectrum of forebrain midline defects, isolated or multiple pituitary hormone deficiencies, spina bifida and sometimes learning difficulties. We report three cases of SOX3 duplication with hypopituitarism and differing presentations.Case reports: 1) A male infant presented in neonatal period with poor feeding, prolonged jaundice, central hypothyroidism and inadequate ...

Background: Septo-optic dysplasia (SOD) is a rare congenital condition diagnosed in children with two or more of hypothalamo-pituitary axis dysfunction, midline brain abnormalities, and optic nerve hypoplasia. SOD has a heterogenous clinical phenotype, characterised by varying visual impairment and endocrine dysfunction. Autistic-like behaviours have also been reported in children with SOD, however the nature of these neurobehavioural impairments remain to be fully understood....

Introduction: Congenital hypothyroidism (CH) occurs 1 in 3,000-4,000 live-births. The causes of CH can be divided into two groups: thyroid developmental defects (thyroid dysgenesis) and inborn errors of thyroid hormone biosynthesis (dyshormonogenesis). Although mutations in paired box gene 8 (PAX8) usually cause thyroid dysgenesis, they have been reported in association with eutopic thyroid gland without function. PAX8 has been described to have a role in regulating the expres...

Background: Pituitary apoplexy is uncommon in childhood and adolescence. Typical clinical features are acute confusion, headache, vomiting and visual disturbance. It is caused by haemorrhage into the pituitary gland. Its association with cerebral infarction is rare. We report an unusual case associated with a cerebral infarction secondary to internal carotid artery compression.Case: 16 year old male was referred to the ‘Stroke Team’ with acute ...

Background: Central diabetes insipidus (CDI) presents with various underlying diagnoses in children.Objective: To determine causes of CDI and long-term outcome in children and adolescents from a Tertiary Paediatric Endocrinology unit providing Regional Paediatric Neurosurgery and head trauma services.Methods: The clinic database was searched to identify patients with CDI managed between 1993 and 2019. Relevant clinical information ...

Background: Children with hyperinsulinaemic hypoglycaemia (HH) are at a high risk of brain injury, while children with ketotic hypoglycaemia (KH) are believed to be neurologically normal. Hippocampus is known to be susceptible to hypoglycaemia, and is one of the key structures in the memory system. Our objective was to ascertain if children with HH sustain greater hippocampal injury and memory deficits in comparison to children with KH.Methods: Twenty on...