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Le Touquet – Paris-Plage, France

O'Connell S.,Paediatric Endocrinology | Siafarikas A.,University of Notre Dame | Siafarikas A.,University of Western Australia
Australian Family Physician | Year: 2010

Background: Adrenal insufficiency is a rare disease caused by either primary adrenal failure (Addison disease) or by impairment of the hypothalamic-pituitary-adrenal axis. Steroid replacement therapy normalises quality of life, however, adherence can be problematic. Objective: This article provides information on adrenal insufficiency focusing on awareness of initial symptoms and on risk scenarios, emergency management and baseline investigations, complete investigations and long term management. Discussion: Early recognition of adrenal insufficiency is essential to avoid associated morbidity and mortality. Initial diagnosis and decision to treat are based on history and physical examination. Appropriate management includes emergency resuscitation and steroid administration. Initial investigations can include sodium, potassium and blood glucose levels. However, complete investigations can be deferred. Specialist advice should be obtained and long term management includes a Team Care Arrangement. For patients, an emergency plan and emergency identification are essential.

Kumaran A.,Paediatric Endocrinology | Kershaw M.,Paediatric Diabetes
Paediatrics and Child Health (United Kingdom) | Year: 2014

Hyperphagic short stature (HSS) is a specific syndrome of growth failure in association with hyperphagia without a clear underlying aetiology, seen in association with a stressful environment. Environmental stressors at home are not always immediately evident however these children characteristically demonstrate reversal of growth impairment when nurtured away from their stressful environment. This review describes the clinical phenotype, underlying endocrine dysfunction and strategies for the management of this complex condition. © 2014 Published by Elsevier Ltd.

Sinn J.,University of Sydney | Stone M.,Paediatric Endocrinology
Journal of Paediatrics and Child Health | Year: 2011

Aim: To illustrate, via case histories, the importance of laboratory investigations for the early diagnosis and management of metabolic bone disease (MBD). Methods: We report three cases of extreme premature infants with MBD. Results: These three infants had several risk factors for MBD of prematurity: very low birthweight, delayed enteral feeds, cholestatic liver disease, intolerance of fortification, the use of glucocorticoids and diuretics. Serum alkaline phosphatase and parathyroid hormone (PTH) were elevated despite relatively normal calcium and phosphate levels. These parameters were corrected with additional supplementation of calcium, phosphate and vitamin D. Conclusions: Infants born extremely prematurely have significant calcium and phosphate depletion by the time they reach full term compared with the normal fetal accretion rate. This is exacerbated if there is poor tolerability to feeds where extra calcium and phosphate could not be added either by additives or via human milk fortifier. Serum calcium and phosphate levels may be normal despite inadequate intake or stores due to the counter-regulatory effect of PTH. In infants at risk of MBD, testing serum alkaline phosphatase, vitamin D and PTH with calcium and phosphate may assist in the monitoring and management of MBD. © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Shimomura K.,Oxford Genetics | De Nanclares G.P.,Endocrinology and Diabetes Research Group | Foutinou C.,Oxford Genetics | Caimari M.,Paediatric Endocrinology | And 2 more authors.
Diabetic Medicine | Year: 2010

Background Closure of the adenosine triphosphate (ATP)-sensitive potassium (KATP) channel plays a key role in insulin secretion from the pancreatic β-cells. Many mutations in KCNJ11 and ABCC8, which respectively encode the pore-forming (Kir6.2) and regulatory (SUR1) subunits of the K ATP channel, cause neonatal diabetes. All such mutations impair the ability of metabolically generated ATP to close the channel. Although lysine 185 is predicted to be a major contributor to the ATP-binding site of Kir6.2, no mutations at this residue have been found to cause neonatal diabetes to date. Methods We report a 3-year-old girl with permanent neonatal diabetes (PNDM) caused by a novel heterozygous mutation (K185Q) at residue K185 of KCNJ11. The patient presented with marked hyperglycaemia and ketoacidosis at 70 days after birth, and insulin therapy was commenced. Results Wild-type and mutant K ATP channels were expressed in Xenopus oocytes and the effects of intracellular ATP on macroscopic KATP currents in inside-out membrane patches were measured. In the simulated heterozygous state, the K185Q mutation caused a substantial reduction in the ability of MgATP to inhibit the channel. Heterozygous K185Q channels were still blocked effectively by the sulphonylurea tolbutamide. Conclusions We report the first clinical case of a PNDM caused by a mutation at K185. Functional studies indicate that the K185Q mutation causes PNDM by reducing the ATP sensitivity of the KATP channel, probably via a reduction in ATP binding to Kir6.2. Based on the experimental data, the patient was successfully transferred to sulphonylurea therapy. © 2010 Diabetes UK.

Ghosh A.,Manchester Center for Genomic Medicine | Banerjee I.,Paediatric Endocrinology | Morris A.A.M.,Manchester Center for Genomic Medicine
Archives of Disease in Childhood | Year: 2016

Hypoglycaemia is frequent in children and prompt management is required to prevent brain injury. In this article we will consider hypoglycaemia in children after the neonatal period. The most common causes are diabetes mellitus and idiopathic ketotic hypoglycaemia (IKH) but a number of endocrine disorders and inborn errors of metabolism (IEMs) need to be excluded. Elucidation of the diagnosis relies primarily on investigations during a hypoglycaemic episode but may also involve biochemical tests between episodes, dynamic endocrine tests and molecular genetics. Specific treatment such as cortisol replacement and pancreatic surgery may be required for endocrine causes of hypoglycaemia, such as adrenal insufficiency and congenital hyperinsulinism. In contrast, in IKH and most IEMs, hypoglycaemia is prevented by limiting the duration of fasting and maintaining a high glucose intake during illnesses.

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