hrp0098p2-308 | Late Breaking | ESPE2024

A Novel homozygous founder mutation in UFSP2 is associated with a distinct form of skeletal dysplasia in Emiratis

Mustafa Manal , Thalange Nandu , Rabea Fatma , Mughal Zulficar , Abou Tayoun Ahmad

Spondyloepimetaphyseal dysplasias (SEMDs), predominantly associated with disproportionate short stature, comprise a heterogeneous group of autosomal-dominant, autosomal-recessive, and X-linked recessive skeletal dysplasias caused by pathogenic variants in several genes. Here we characterize a distinct form of skeletal dysplasia in 4 individuals from 3 unrelated Emirati families. Through whole exome sequencing, we identify a novel homozygous missense variant (c.1376A>C; p.As...

hrp0097p2-55 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Three Years of Burosumab Treatment in a Child with Cutaneous Skeletal Hypophosphatemia Syndrome: A case report

Mustafa Manal , Mughal Zulf

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare mosaic disorder caused by somatic gain-of-function RAS mutations. It is characterized by segmental epidermal nevi and fibroblast growth factor-23 (FGF23) mediated hypophosphatemic rickets. These patients also have dysplastic cortical skeletal lesions. We describe an Emirati child with CSHS whose hypophosphatemic rickets and dysplastic skeletal lesions failed to heal due to poor adherence to conventional oral phospha...

hrp0086p1-p126 | Bone & Mineral Metabolism P1 | ESPE2016

Impact of Intercurrent Illness on Calcium Homeostasis and Hypoparathyroidism Management

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

Background: 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.Objective/hypotheses/method/results: Case series Case 1: Two-month...

hrp0097p1-213 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Age at diagnosis of XLH amongst children with and without a family history: Findings from the International XLH Registry

Uday Suma , Sandilands Kerry , Williams Angela , Mughal M.Zulf

Background: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic phosphate wasting disorder leading to rickets, lower limb deformities as well as short and disproportionate stature. The condition is inherited in the majority, however spontaneous mutations are reported in ≈30% of cases. Its rarity, coupled with its diverse clinical manifestations, may lead to delayed diagnosis and subsequently delayed treatment initiation. The objective of this an...

hrp0098t2 | Top 20 Posters | ESPE2024

Comprehensive Evaluation of Anastrozole in Pediatric Height Management and Bone Health– A Real World Data

Ghanim Reham , Ehtisham Sarah , Mughal Zulf , Thalange Nandu

Introduction: Optimal height during pediatric and adolescent growth is a significant factor affecting a child's self-esteem and future outcomes. Aromatase Inhibitors such as Anastrozole are utilized to enhance final adult height in peripubertal boys by impeding the conversion of androgens to estrogens, a critical process in growth plate closure. However, concerns have been raised about the potential adverse effect of aromatase inhibitors on bone health, a...

hrp0092p1-172 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Is Serum Alkaline Phosphatase Useful in Assessing Rickets Severity on Radiographs in Children with X-Linked Hypophosphataemia on Conventional Therapy?

Uday Suma , Shaw Nick , Mughal Zulf , Randell Tabitha , Högler Wolfgang , Santos Rui , Padidela Raja

Introduction: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. An important treatment goal is to heal rickets which is assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: To determine the usefulness of serum ALP in assessing disease severity on wrist and knee ra...

hrp0086p1-p145 | Bone & Mineral Metabolism P1 | ESPE2016

To Study the Efficacy and Safety of Growth Hormone (GH) Therapy in Children with Pycnodysostosis

Mohamed Zainab , Sachdev Pooja , Zamir Imran , Benson Joanna , Denvir Louise , Mughal M Zulf , Randell Tabitha

Background: Pycnodysostosis is a rare recessive condition with mutation in the cathepsin K gene, causing reduction in bone reabsorption resulting in abnormally dense and fragile bones. Characteristic features include deformity of the skull, maxilla causing craniofacial, dental abnormalities with skeletal changes and short stature. Growth hormone therapy has been attempted in a small group of patients with Pycnodysostosis to promote final adult height, however has not been show...

hrp0086p1-p118 | Bone & Mineral Metabolism P1 | ESPE2016

Management of Tracheobronchomalacia During Asfotase Alfa Treatment in Infants with Perinatal-onset Hypophosphatasia: A Case Series

Padidela Raja , Yates Rob , Benscoter Dan , McPhail Gary , Chan Elaine , Nichani Jaya , Mughal M Zulf , Saal Howard M

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP), resulting in hypomineralisation of bone. HPP presenting <6 months of age is often lethal due to respiratory insufficiency, with survival of 42% at 1 year. Asfotase alfa, a human recombinant TNSALP replacement, promotes bone mineralisation, with survival of 95% at 1 year in infants with HPP....

hrp0084p2-223 | Bone | ESPE2015

Refractory Hypercalcaemia of Malignancy: Responsiveness to Denosumab and Zoledronate

Giri Dinesh , Ramakrishnan Renuka , Hayden James , Brook Lynda , Das Urmi , Mughal M Zulf , Selby Peter , Dharmaraj Poonam , Senniappan Senthil

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report 2 cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: A 17-year-old boy with epidermolysis ...

hrp0089p2-p040 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

X-linked Hypophosphatemia Registry – An International Prospective Patient Registry

Padidela Raja , Nilsson Ola , Linglart Agnes , Makitie Outi , Beck-Nielsen Signe , Ariceta Gema , Schnabel Dirk , Brandi Maria Luisa , Boot Annemieke , Jandhyala Ravi , Moeller Gerd , Levtchenko Elena , Mughal Zulf

Introduction: X-linked hypophosphatemia (XLH) is a rare, inherited disease that affects approximately 1 in 20,000 individuals. XLH is a disorder of renal phosphate wasting caused by high circulating levels of fibroblast growth factor 23 (FGF23) that impairs normal phosphate reabsorption in the kidney and production of the active form of vitamin D. Children with XLH experience abnormal bone development, rickets, osteomalacia, impaired growth, dental abscesses, craniosynostosis ...