Endocrine Abstracts

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: 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 ...

Introduction: Thyrotoxicosis, the commonest cause of which is Graves’ disease, is rare in childhood and adolescence.We report a consecutive series of patients referred to a single tertiary paediatric endocrine centre over 5 years.Methods: Retrospective case note and database review of patients referred 01/2013–02/2018.Results: 27 patients (21F) with Graves’ disease in 21, and Hashitoxicosis in 6. During the same peri...

Background and ObjectiveData on the epidemiology, effects of dopamine agonists and long term outcome of prolactinoma in children and adolescents have been gradually accumulating but are still scarce. We conducted a systematic review and meta-analysis of published literature (1994 – 2019) to study the epidemiology of prolactinoma in patients < 20 years old, and determine the management strategies adopted.Methods: Relevant ...

Introduction: CHARGE syndrome is a complex multisystem disorder with characteristic congenital malformations. The spectrum of endocrine abnormalities associated with CHARGE syndrome is not well defined. We report the experience of our tertiary endocrine centre in the management of these patients.Methods/study design: Patients with CHARGE syndrome were identified from the endocrine clinic database and information was gathered retrospectively from medical ...

Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in seven genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1 and HNF4A) are known to cause CHI.Aim: To characterise the clinical and molecular aspects of a large cohort of patients with CHI.Methodology: 300 patients with biochemically confirmed CHI were recruited. Detailed clinical information was collected prior to geno...

Background: Cardiofaciocutaneous (CFC) syndrome is a rare disorder characterised by multiple abnormalities including congenital heart disease, craniofacial dysmorphology, ectodermal abnormalities, developmental delay, and epilepsy. Case reports of growth hormone (GH) deficiency, hyperprolactinemia, and precious puberty have been reported in association with CFC syndrome. A recent case series and gene knockout study highlighted the mechanistic role of CFC syndr...

Introduction: Addison’s disease (AD) is a rare endocrine disorder in children, characterized by insufficient production of cortisol and aldosterone due to adrenal gland dysfunction. While electrolyte imbalances, including hyponatremia, hyperkalaemia, can occur in AD, severe hyponatremia is an unusual and challenging complication in children. We present a case of severe hyponatremia in a teenager diagnosed with AD.Case report...

Background: Craniopharyngioma is a benign tumour involving the hypothalamic and pituitary regions that are involved in the production and secretion of oxytocin. Research has shown that dysfunction of the oxytocin system is associated with neurobehavioural and metabolic outcomes, but less is known for its role in patients with craniopharyngioma, largely due to varied study designs and heterogenous methods of assessing the oxytocin system. This systematic review...