Previous issue | Volume 94 | ESPE2021

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

hrp0094p1-11 | Bone A | ESPE2021

Bone and endocrine monitoring in boys with Duchenne Muscular Dystrophy

Harley Gemma , Dunner Jennifer , Joseph Shuko , Horrocks Iain , Choong Wong Sze ,

Background: In 2020, a UK wide collaborative project between clinicians and patient organisations (Funding from Duchenne UK) called DMD Care UK was launched. The project aims to define the care standards which should be implemented as a priority in all UK centres. Adapting recommendations from the 2018 international care consensus, items were highlighted and used as standards for this audit in one tertiary centre. The standards are that all boys with DMD<p...

hrp0094p1-12 | Bone A | ESPE2021

Real-world clinical profiles of children with hypophosphatasia (HPP) from the Global HPP Registry

Martos-Moreno Gabriel , Linglart Agnes , Petryk Anna , Kishnani Priya , Rockman-Greenberg Cheryl , Dahir Kathryn , Seefried Lothar , Fang Shona , Ozono Keiichi , Hogler Wolfgang ,

Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue non-specific alkaline phosphatase (TNSALP). In children, HPP has a heterogeneous clinical presentation, frequently with nonspecific musculoskeletal and systemic manifestations, often leading to misdiagnoses and substantial delays in diagnosis. Data from 323 children with confirmed HPP diagnosis (aged <18 years, ALP activity below the reference range and/or ALPL mut...

hrp0094p1-13 | Bone A | ESPE2021

Characterisation and phenotype-genotype associations of a large cohort of patients with pseudohypoparathyroidism type 1A and 1B

Prentice Philippa , Wilson Louise , Gevers Evelien , Buck Jackie , Raine Joseph , Rangasami Jayanti , McGloin Helen , Peters Catherine , Amin Rakesh , Gan Hoong-Wei , Brain Caroline , Dattani Mehul , Allgrove Jeremy ,

We characterised the phenotype of PHP patients at two UK tertiary care centres and investigated phenotype-genotype correlations.Method: Retrospective review of case notes for patients with PHP at two UK tertiary care centres.Results: 55 patients, from 41 kindreds, were identified; 32 with PHP1a, 23 with PHP1b. The PHP1a cohort (56% female, 69% White), currently aged 16.7+/-10.6 years, presented at ...

hrp0094p1-14 | Bone A | ESPE2021

Tumor induced osteomalacia, a rare and complex condition with more treatment options, exemplified in two patients.

Birkebaek Niels ,

Background: Tumor induced osteomalacia (TIO) is clinically characterized by bowed, short and painful legs in children and bone pain if onset in adolescent or adult life. Paraclinical, TIO is characterized by hypophosphatemia, low levels of 1.25-OH2-vitamin D (1.25 OH2D), and elevated levels of fibroblast growth factor 23 (FGF23). TIO is due to tumor secretion of FGF23, which inhibits phosphate re-absorption in the proximal renal tubules a...

hrp0094p1-15 | Bone A | ESPE2021

Vitamin D status and guidelines in Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS)

Brighouse James Robert , Wan Mandy , Duncan Emma , Handforth Jennifer , Kenny Julia , Mughal M. Zulf , Riphagen Shelley , Theocharis Paraskevi , Cheung Moira S. ,

Introduction: Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS) was first reported by our hospital in the UK. Vitamin D3(25(OH)D) has important roles in cardiac function, immunomodulation, and inflammation. It therefore may be an important biomarker for severity in PIMS-TS, however 25(OH)D status and treatment guidance in PIMS-TS are lacking. We report serum 25(OH)D levels on admission and associations wit...

hrp0094p1-16 | Bone A | ESPE2021

Leptin to adiponectin ratio at the age of 12 is negatively associated with lumbar spine bone mineral apparent density independently of body fat mass in 18-year old males.

Tamme Reeli , Jurimae Jaak , Maestu Evelin , Remmel Liina , Purge Priit , Mengel Eva , Tillmann Vallo ,

Background: Inconsistent associations of leptin and adiponectin with bone mineral characteristics in puberty and adolescence have been reported.Aim: To examine associations between leptin to adiponectin ratio (LAR) in puberty and bone mineral characteristics at 18 years of age and increase of bone mineral characteristics until 18 years of age.Materials and methods: 88 boys were investigated with a ...

hrp0094p1-17 | Bone A | ESPE2021

Clinical Spectrum of Hypomagnesemia type 1 (HOMG1) due to Novel TRPM6 mutations

Aftab Sommayya , Anjum Muhammad Nadeem , Saeed Anjum , Shaheen Tahir , Cheema Huma Arshad ,

Background: Hypomagnesemia type 1 (HOMG1) is a rare autosomal recessive condition due to TRPM6 mutation, leading to decrease intestinal magnesium absorption.Objective: To determine the clinical spectrum of HOMG1 due to TRPM6 mutation at a tertiary centre.Case Series: Seven patients (all male) from six different families of hypomagnesemia type 1 due to homozygous TRPM6 mut...

hrp0094p1-18 | Bone A | ESPE2021

A rare cause of hypercalcemia: Congenital Lactase Deficiency

Eltan Mehmet , Alavanda Ceren , Abali Saygin , Abali Zehra Yavas , Kaygusuz Sare Betul , Tosun Busra Gurpinar , Menevse Tuba Seven , Helvacioglu Didem , Guran Tulay , Ata Pınar , Bereket Abdullah , Turan Serap ,

Background: Congenital lactase deficiency (CLD) occurs as a result of loss of function of intestinal lactase-phlorizin hydrolase (LPH) encoded by LCT gene. Patients usually present with osmotic diarrhea in the first few days of life. Although the exact mechanism is not known, hypercalcemia is a common feature of CLD; with calcium levels up to 14 mg/dl and nephrocalcinosis have been reported. However, CLD is frequently overlooked in the differential diagnosis o...

hrp0094p1-19 | Bone A | ESPE2021

Acetazolamide treatment in a patient with pseudohypoparathyroidism with venous calcification

Seven Menevse Tuba , Tosun Busra Gurpinar , Yavas Abalı Zehra , Helvacioglu Didem , Kaygusuz Sare Betul , Eltan Mehmet , Bugdayci Onur , Guran Tulay , Bereket Abdullah , Turan Serap ,

Context: Type 1A pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to PTH and AlbrightÂ’s hereditary osteodystrophy (AHO). Basal ganglia calcifications and subcutaneous ossifications can be seen in PHP-1A. Acetazolamide, a carbonic anhydrase inhibitor, causes metabolic acidosis by increasing bicarbonate excretion from the proximal renal tubule thereby diminish precipitation of calcium and phosphorus. Acetazolamide had been used ...

hrp0094p1-20 | Bone A | ESPE2021

A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia

Chawla Meghna , Bhardwaj Girish , Patil Atul ,

Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding TRPM6 (Transient receptor potential melastatin 6) on chromosome 9q22. This channel causes epithelial absorption of magnesium in the colon and renal distal convoluted tubule. Fewer than 100 cases have been reported in literature. A four year old girl had presented to us with tetany lasting for 30 minutes. Detailed history reve...