Natural history of idiopathic diabetes insipidus.

Objective: To determine what percentage of diabetes insipidus (DI) in childhood is idiopathic and to assess the natural history of idiopathic DI.

Study Design: We conducted a retrospective chart review of 105 patients with DI who were born or had DI diagnosed between 1980-1989 at 3 medical centers. A second cohort of 30 patients from 6 medical centers in whom idiopathic DI was diagnosed after 1990 was evaluated retrospectively for subsequent etiologic diagnoses and additional hypothalamic/pituitary deficiencies and prospectively for quality of life.

The spectrum of clinical paediatric endocrinology: 28 years of referrals to an individual consultant.

Aim: To review referrals throughout the career of an individual paediatric endocrinologist.

Methods: A retrospective cohort study in metropolitan clinics in Queensland analysed details of all 9062 patients aged<18 years referred between January 1980 and December 2007 to determine the proportion of diagnoses in major disease categories and changes in referral patterns over time.

Results: Short stature (29%), type-1 diabetes mellitus (20%) and pubertal disorders (12%) accounted for most cases, with thyroid disorders (7%), obesity (6%), tall stature (5%) and hypothalamic-pituitary disorders (4%) the next commonest.

Referrals for tall stature in children: a 25-year personal experience.

Aim: Extreme tall stature may lead to a variety of concerns in tall children and their parents, leading to requests for treatment to reduce final height in some children. This study reviews referrals for tall stature to a single pediatric endocrinologist and results of treatment over 25 years from 1980 to 2004.

Methods: Diagnoses, heights, target heights and estimated final heights at presentation, and final heights and complications in treated patients, were examined by retrospective chart review.

Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus.

Context: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare disorder resulting from arginine vasopressin (AVP) gene mutations. A partial defect in AVP secretion occurs early in the course of FNDI and may not be detected by a water deprivation test (WDT). Testing for AVP gene mutations may confirm a diagnosis of FNDI when a WDT is inconclusive and may also predict individuals who will later develop FNDI.

Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

In hyperinsulinism of infancy (HI), unregulated insulin secretion causes hypoglycemia. Pancreatectomy may be required in severe cases, most of which result from a defect in the beta-cell KATP channel, encoded by ABCC8 and KCNJ11. Pancreatic histology may be classified as diffuse or focal disease (the latter associated with single paternal ABCC8 mutations), indicated by the presence of islet cell nuclear enlargement in areas of diffuse abnormality.

Mini-dose glucagon rescue for mild hypoglycaemia in children with type 1 diabetes: the Brisbane experience.

Objectives: To evaluate the use of small doses of glucagon using an insulin syringe in mild or impending hypoglycaemia in children with type 1 diabetes.

Methods: Data were collected from patients attending the Paediatric Diabetes Clinic at the Queensland Diabetes Centre at the Mater Hospital, Brisbane in 2002-2004 following the institution of a new protocol for home management of mild or impending hypoglycaemia associated with inability or refusal to take oral carbohydrate. The protocol recommended the use of subcutaneous injections of glucagon using insulin syringes at a dose of two 'units' (20 microg) in children 2 years of age or younger, and for older children one unit per year of age up to a maximum of 15 units (150 microg), with an additional doubled dose given if the blood glucose had not increased in 20 min.

The outcome in Australian children with hyperinsulinism of infancy: early extensive surgery in severe cases lowers risk of diabetes.

Aims: Hyperinsulinism of infancy (HI) is characterized by unregulated insulin secretion in the presence of hypoglycaemia, often resulting in brain damage. Pancreatic resection for control of hypoglycaemia is frequently resisted because of the risk of diabetes mellitus (DM). We investigated retrospectively 62 children with HI from nine Australian treatment centres born between 1972 and 1998, comparing endocrine and neurological outcome in 28 patients receiving medical therapy alone with 34 who required pancreatic resection to control their hypoglycaemia.