Endocrine Abstracts

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...

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...

Introduction: Inactivating mutations of the calcium sensing receptor (CASR) are associated with familial benign hypercalcaemia (FBH) and neonatal severe hyperparathyroidism whilst activating mutations are associated with autosomal dominant hypocalcaemia (ADH) and Bartter syndrome Type V.Aims: To highlight the phenotypic and biochemical variability seen with both activating and inactivating mutations of the CaSR.Methods: To describe...

A 3-years-old young girl, born to Caucasian non-consanguineous parents, presented with bowed legs, noticed since the age of 18-months. She had no significant past medical or family history. On examination, her height was −1.3 SDS (Mid parental height +1.87 SDS). She had widened wrists, genu varum and rachitic rosary. She had areas of skin hyperpigmentation on left forearm and anterior thigh.Investigations showed low 25-OH Vitamin D (35 nmol/l), nor...

Objectives: Autosomal Dominant Hypocalcaemia (ADH) is due to gain-of-function mutations of the CASR resulting in constitutive activation of the GPCR Calcium Sensing Receptor (CaSR) leading to hypercalciuric hypocalcaemia, hypoparathyroidism and occasionally Bartter syndrome type V. Patients usually present with hypocalcaemic seizures at young age. Conventional treatment is with Alfacalcidol and Calcium or PTH injections. We describe a series of five patients with ADH ...

Introduction: Prevalence of vitamin D deficiency is well recognised and public awareness is being raised to encourage intake of vitamin D supplements. Optimal serum concentration of 25OHD for bone and general health has not been established. Desirable serum concentration of 25OHD had been proposed as >75 nmol/l and levels above 500 nmol/l are deemed toxic. Guidance is available on tolerable upper limit of vitamin D intake by US Institute of Medicine....

Background: Activating mutations in the calcium sensing receptor can result in severe hypoparathyroidism with symptomatic hypocalcaemia. Complications of treatment with calcitriol or alfacacidol include hypercalciuria, nephrocalcinosis and renal failure. The use of synthetic parathyroid hormone (PTH 1–34, teriparatide) provides a more physiological treatment option and reduces the risk of hypercalciuria. Intermittent injections of PTH have been used with some success but ...

Introduction: Generalised arterial calcification of infancy (GACI) is a rare autosomal-recessive disorder, associated with high mortality rate, due to inactivating mutations in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene that results in arterial stenosis secondary to unregulated hydroxyapatite deposition.Case report: A female baby was born at 34+5 weeks to consanguineous parents with a birth weight of 3.97 kg. Baby was born in ...