Bone

ea0085p7 | Bone | BSPED2022

Does maternal deprivation have a bearing on the newborn vitamin D status?

Hoegler Wolfgang , Tischlinger Katharina , Large Jamie , Naseem Sunia , Fraser William , Tang Jonathan , Uday Suma

Objectives: Examine the effect of maternal Index of Multiple Deprivation (IMD) on newborn 25-hydroxyvitaminD (25OHD) levels in a multi-ethnic newborn cohort.Design: 3000 dried blood spots (DBS) were gathered from newborns at a regional newborn screening laboratory over two 1-week periods [February 2019 (winter) and August 2019 (summer)]. Data on birth weight, gestational age, maternal age, ethnicity, and post code were collected. Post code was replaced w...

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ea0085p8 | Bone | BSPED2022

Burden of disease in family members of children presenting with symptomatic vitamin D deficiency: who to test and when?

Uday Suma , Hoegler Wolfgang

Background: The extent of biochemical abnormalities in household members of children presenting with symptomatic vitamin D deficiency remains unknown. Characterising risk groups who warrant 25 hydroxyvitamin D (25OHD) testing will help reduce the rising frequency of unnecessary testing in the UK.Aims: Investigate the prevalence of vitamin D deficiency and biochemical osteomalacia in the mothers and siblings of children presenting with symptomatic vitamin...

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ea0085p9 | Bone | BSPED2022

Bone biochemistry in children with fractures presenting with non-accidental injury

McDonald Heather , Forbes Owen , Lucas-Herald Angela , Houston James , McDevitt Helen , McNeilly Jane , Mason Avril

Background: Fractures are reported in 1/3 of children who have been abused. The Royal College of Paediatrics and Child Health (RCPCH) recommends that assessment of fractures where there is suspicion of physical abuse should include bone biochemistry: calcium (Ca), phosphate (Ph), alkaline phosphatase (ALP), parathyroid hormone (PTH) and Vitamin D (VitD).Objectives: To describe the pattern of bone biochemistry in children with fractures when non-accidenta...

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ea0085p10 | Bone | BSPED2022

Hypophosphatemic rickets as a key presenting feature of tyrosinemia type 1

Chandwani Manju , Usman Shehla , Law James , Denvir Louise , Sachdev Pooja , Randell Tabitha , Qureshi Isaque

Queens Medical Centre, Nottingham, United KingdomTyrosinemia type-1 is a rare autosomal recessive disorder. It usually presents in an acute form in early infancy. Rarely, it can also present as a chronic form with gradual onset. The key presenting features are failure to thrive, liver dysfunction and/or Fanconi syndrome. We present a perplexing case of a 2-year-old girl with tyrosinemia type-1, who initially presented with failure to thrive and hypophosphatemic rickets w...

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ea0085p11 | Bone | BSPED2022

Abstract Withdrawn...

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ea0085p12 | Bone | BSPED2022

A case series of 8 patients with pseudohypoparathyroidism and variable phenotype

Gubaeva Diliara , Makazan Nadezhda , Kareva Maria , Peterkova Valentina , Ramakrishnan Renuka , Senniappan Senthil

Introduction: Pseudohypoparathyroidism (PHP) is a group of heterogeneous disorders causing parathyroid hormone (PTH) resistance. The features could include Albrights hereditary osteodystrophy phenotype (AHO) [brachydactyly, short stature, obesity, round face, ectopic ossifications, intellectual disability]. The condition is rare with an estimated prevalence of 0.34-1.1 in 100,000 and the clinical presentation can be variable. Herein, we present 8 patients with PHP from t...

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ea0085p13 | Bone | BSPED2022

Atypical persistence of neuropsychiatric symptoms in adolescents with primary hyperparathyroidism post parathyroidectomy- a review of two cases

Mary Tharakan Riya , Matei Cristina , Khetriwal Babita , Chesover Alexander D , Allgrove Jeremy

Introduction: Neuropsychiatric manifestations are well recognised in patients with primary hyperparathyroidism (PHP). Abnormal calcium channel physiology has been implicated in several pain disorders. The psychopathology emerges after prolonged subclinical hypercalcemia, but there is poor correlation with symptom severity. We report the complex management of two adolescents with PHP, secondary to parathyroid adenoma (no predisposing germline mutation identified), with persiste...

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ea0085p14 | Bone | BSPED2022

A novel GNAS variant in a child with hyperphagia, obesity, brachydactyly and normocalcaemia

Purushothaman Preetha , Gevers Evelien

Introduction: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease characterized by resistance to parathyroid hormone along with hormonal resistance and features of Albright hereditary osteodystrophy (AHO). This is caused by heterozygous inactivating mutations in the maternal allele of the GNAS gene, which encodes the stimulatory G-protein alpha subunit (Gsα) and regulates production of second messenger cyclic AMP. Here, we report a previously undescribed GN...

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Endocrine Abstracts

49th Annual Meeting of the British Society for Paediatric Endocrinology and Diabetes

Poster Presentations

Does maternal deprivation have a bearing on the newborn vitamin D status?

Burden of disease in family members of children presenting with symptomatic vitamin D deficiency: who to test and when?

Bone biochemistry in children with fractures presenting with non-accidental injury

Hypophosphatemic rickets as a key presenting feature of tyrosinemia type 1

A case series of 8 patients with pseudohypoparathyroidism and variable phenotype

Atypical persistence of neuropsychiatric symptoms in adolescents with primary hyperparathyroidism post parathyroidectomy- a review of two cases

A novel GNAS variant in a child with hyperphagia, obesity, brachydactyly and normocalcaemia

BiosciAbstracts