Searchable abstracts of presentations at key conferences in endocrinology

ea0051cme5 | CME Training Day Abstracts | BSPED2017

An approach to investigation and management of hypo and hypercalcemia

Padidela Raja

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...

ea0085cme2.1 | CME Symposium 2 | BSPED2022

An approach to hypo/hypercalcemia

Padidela Raja

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 ...

ea0085oc6.5 | Oral Communications 6 | BSPED2022

Bone mineralisation as assessed by bone health index in children with congenital adrenal hyperplasia

Francesca Roberts Hannah , Chinoy Amish , Padidela Raja

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...

ea0036oc4.2 | Oral Communications 4 | BSPED2014

Validation of a Food Frequency Questionnaire for rapid assessment of daily dietary calcium intake in children

Nordblad Mikaela , Mughal Zulf , Padidela Raja

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...

ea0045p11 | CME | BSPED2016

Early administration of asfotase alfa in a newborn with perinatal hypophosphatasia

Chinoy Amish , Mughal Zulf , Padidela Raja

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...

ea0039ep17 | Bone | BSPED2015

The prevalence of fragility fractures in children with cerebral palsy in Manchester: a cross-sectional survey

Patel Ekta , Alshryda Sattar , Ferguson Anne , Mughal Zulf , Padidela Raja

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...

ea0033p9 | (1) | BSPED2013

Enzyme-replacement therapy in life-threatening perinatal hypophosphatasia in a premature infant

Padidela Raja , Yates Robert , Chan Elaine , Mughal Zulf

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 ...

ea0033p88 | (1) | BSPED2013

An unexpected diagnosis of follicular–variant papillary thyroid carcinoma in an 11-year-old male

Steele Caroline , Makin Guy , Mohamed Zainab , Child Frances , Padidela Raja

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, ...

ea0030p11 | (1) | BSPED2012

Dietary calcium restriction in idiopathic infantile hypercalcemia does not adversely affect spinal and distal radial bone mineral density: report on nine patients

Daniel Anjali , Padidela Raja , Adams Judith , Mughal Zulf

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...

ea0045oc6.4 | Oral Communications 6- Endocrine | BSPED2016

Impact of intercurrent illness on calcium homeostasis and hypoparathyroidism management

Chinoy Amish , Mughal Zulf , Skae Mars , Babiker Amir , Padidela Raja

Introduction: Hypoparathyroidism is typically managed with calcitriol/alfacalcidol. Close monitoring of serum calcium is required as under-treatment causes symptomatic hypocalcaemia while over-treatment will cause nephrocalcinosis. We report three cases who demonstrated resistance to treatment during an intercurrent illness, necessitating increase in medication doses and monitoring.Case series: Case 1: Two-month-old boy with newly diagnosed hypo...