Endocrine Abstracts

Hypocalcemia is defined as serum calcium (Ca) level below the lower limit of the normal range of 2.2–2.7 mmol/l. It may arise because of inadequate Ca supply (dietary deficiency, Vitamin D deficiency or resistance), impaired parathyroid hormone secretion or resistance (pseudohypoparathyroidism). Hypomagnesemia may lead to hypocalcemia due to impaired parathyroid hormone secretion and/or end organ resistance, and hence it is important to promptly recognize and treat it con...

Calcium (Ca) is critical for a multitude of biological processes in the human body. Ca concentration is therefore tightly controlled in all age groups between 2.2-2.7 mmol/l. When Ca intake is low, extracellular fluid Ca can potentially decrease. The parathyroid cell is exquisitely sensitive to minor alterations in Ca level and a rise in PTH normalises the reduced serum Ca concentration because of its action on (1) the intestine, by increasing Ca absorption, indirectly by its ...

Background: 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) is characterised by cortisol deficiency, androgen excess, varying degrees of virilisation and salt-wasting. CAH management involves replacement therapy with hydrocortisone, and, often, fludrocortisone. High levels of androgens cause the advancement of bone age (BA) with the potential to increase bone mineralisation. Hydrocortisone therapy on the contrary can contribute to reducing bone mineralisation. P...

Introduction and aims: Adequate dietary calcium (Ca) intake is important for maintenance of bone health. In a clinical setting we employ a simple Food Frequency Questionnaire (FFQ) for rapid assessment of dietary Ca intake. In this study we have validated our FFQ using a 3-day food diary (3FD) in children presenting to our metabolic bone and endocrine clinics.Methods: Dietary Ca intake values estimated using the FFQ were compared to those estimated by th...

Background: PHID is a novel syndrome caused by mutations in SLC29A3, which encodes for the nucleoside transporter protein hENT3. It is associated with multiple endocrine manifestations including severe short stature, pubertal delay and pancreatic exocrine insufficiency. Mutations in SLC29A3 have also been linked to H syndrome and familial Rosai Dorfman Disease (RDD). A key feature of these syndromes is persistent inflammation. Currently there is no treatment for ...

Hypophosphatasia (HPP) is an inherited systemic metabolic bone disease occurring due to mutations in the ALPL gene which encodes for tissue-nonspecific alkaline phosphatase (TNSALP), resulting in defective bone mineralisation due to accumulation of inorganic pyrophosphate (PPi). The perinatal form of this condition lays at the most severe end of the spectrum. Enzyme replacement therapy with asfotase alfa, a recombinant fusion protein that includes the catalytic domain...

Background: Cerebral palsy (CP) is the most common physically disabling childhood motor disorder. Fractures in this group of children are common, however, prevalence and risk factors associated with fractures in children with CP in the UK is not known.Aims: The aims of this cross-sectional survey were i) to determine the prevalence of fractures in children with moderate-to-severe CP in Manchester, ii) to determine the common sites of fracture, and iii) t...

Hypophosphatasia (HP) is a rare inborn error of metabolism resulting from inactivating mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Deficiency of alkaline phosphatase (ALK) activity leads to severe rickets. The perinatal form presents with extreme skeletal hypomineralisation at birth, and was a fatal condition until recently. We describe an 11-month-old infant who is one of the few surviving cases of a preterm infant with ...

Introduction: Thyroid carcinoma in childhood is rare, but may present with distant metastases. We present an unexpected diagnosis of follicular–variant papillary thyroid carcinoma (FVPTC) presenting to acute services with cyanosis.Case report: An 11-year old boy presented to A&E with a two month history of cyanosis, worse with exertion, but not associated with respiratory distress or limitation of exercise tolerance. He had peripheral cyanosis, ...

Idiopathic infantile hypercalcemia (IIH) (OMIM 143880) is characterised by severe hypercalcemia, failure to thrive, vomiting, dehydration and nephrocalcinosis. Laboratory evaluation of infants affected with this condition reveals hypercalcemia, suppressed parathyroid hormone and hypercalciuria. Recently loss of function mutations in CYP24A1 gene have been found to cause IIH (New England Journal of Medicine 2011 365 410–21). Short-term treatment for th...