Endocrine Abstracts

Introduction: Allgrove syndrome is a rare autosomal recessive disorder characterized by a Lacrima, achalasia, adrenal Insufficiency and Neurologic disorders. Mutation in (AAAS) gene on chromosome 12q13, has been implicated.Case report: Eighteen-year-old male referred to the Endocrinology clinic for evaluation of suspected adrenal insufficiency. The patient reported generalized weakness, fatigue, anorexia recurrent fainting attacks, and progressive hyperp...

IntroductionTriple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. It is a multisystemic disease with an estimated prevalence of 1 per 1 000 000 individuals The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Recently, dental impairment has been the subject of several case reports and reviews. However, this abnormality remains under-diagnosed.Purpose<p class="...

Background: Triple A (Allgrove) syndrome is a rare genetic disorder with autosomal recessive inheritance, caused by mutations in the AAAS gene on chromosome 12q13. It is characterized by the following triad: ACTH-resistant adrenal insufficiency, alacrimia, and achalasia.Case presentation: We present the case of a 19-year-old male who was diagnosed with adrenal insufficiency at the age of five following an addisonian crisis with hypoglycemic coma. At the ...

Bone has three main components: matrix, mostly made up of type 1 collagen, mineral, which is laid down on the matrix by osteoblasts, and bone cells: osteoclasts, which are derived from haemopoietic precursors, osteoclasts, which are of fibroblast precursor origin, and osteocytes, the most numerous, which are derived from osteoblasts.Osteoblasts operate under the influence of several humoral factors including PTH, 1,25(OH)2D and cytokines which...

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During the past ten years there has been an explosion of understanding of the metabolism of phosphate which centres around fibroblast growth factor 23 which is now thought to be the ‘phosphotonin’ that had long been suspected.Discovery of this hormone, which is synthesised by osteocytes, is secreted and circulates in plasma, therefore qualifying it as a true hormone, has led to an understanding of the mechanisms of the various forms of hypophos...

Background: Hypercholesterolaemia has been identified as a major risk factor for cardiovascular disease in adults with Diabetes Mellitus (DM), and studies have shown evidence of raised lipid levels in children with Diabetes. However, current NICE guidelines state that ‘Routine screening for elevated blood lipid levels is not recommended for children and young people with type 1 diabetes’; although ISPAD and APEG recommendations are for lipid screening in those over 1...

We present a 3-month-old boy who was born at term, to non-consanguineous parents by spontaneous vaginal delivery, weighing 4.19 kg. Newborn examination, including eyes, was normal. He was admitted at 7 days of life with focal seizures and hypocalcaemia, hypomagnesaemia, hyperphosphataemia, and inappropriately low parathyroid hormone (PTH) levels. He was treated with i.v. calcium and magnesium infusions and discharged on oral calcium, magnesium, and alfacalcidol. He was re-admi...

Background: PTEN hamartoma tumour syndrome (PHTS) is a rare autosomal dominant disorder characterised by macrocephaly and multiple hamartomas. It carries an increased risk of several cancers, including breast, thyroid and endometrium. PHTS is caused by inactivating mutations of PTEN (phosphate and tensin homologue deleted on chromosome 10), which encodes a tumour suppressor phosphatase. Published guidelines for surveillance are available for adult patients but not adv...

Background: PTEN hamartoma tumour syndromes (PHTS) are rare autosomal dominant inherited disorders characterised by macrocephaly, multiple hamartomas and an increased risk of several cancers, including breast, thyroid and endometrium. PTEN encodes a tumour suppressor phosphatase that regulates cell survival and migration. Published guidelines are available for adult patients but screening in children is currently not standardised. Moreover, there is poor genotype-phenotype cor...