ESPE Abstracts

Background: Fibrous dysplasia (FD) is a rare bone disorder characterized by the proliferation of fibrous tissue within the bone, leading to pain, deformity, and an increased fracture risk. While management primarily focuses on symptomatic relief, surgical interventions, calcium supplementation, and vitamin D therapy, bisphosphonates have been used as a therapeutic option in children. However, studies of bisphosphonate efficiency have shown inconclusive results...

Introduction: Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Biallelic loss-of-function variants in the CYP24A1 —which encodes the vitamin D-24-hydroxylase that regulates 1,25-(OH)2D catabolism—have been associated with IIH. Cases of IIH with CYP24A1 variants reportedly have several complications—including nephrocalcinosis, cardiovas...

Aim: We present a case with clinical manifestations of HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome resulting from a missense variant in the GATA3 gene, which is not yet reported in the patients defined in the literature to our knowledge.Case presentation: A 13-year-old male patient, presented to the emergency department with a suspected seizure history. He reportedly woke up du...

Background: Vitamin D dependent rickets Type 2A (VDDR2A) is a rare autosomal recessive disorder due to mutation in vitamin D receptor (VDR) leading to hypocalcemia, secondary hyperparathyroidism and signs of rickets. It usually presents with bony deformities along with complete or partial alopecia and is challenging to manage.Objective: We are reporting case series of two siblings with VDDR2A who were managed in a non-co...

Objective: To evaluate the correlation of GNAS gene mutation in clinically diagnosed pseudohypoparathyroidism patients and to examine accompanying hormonal abnormalities and phenotypic features.Materials and Methods: Our study group consisted of 6 patients who were followed and treated with the diagnosis of pseudohypoparathyroidism in our clinic. Calcium (Ca), phosphorus (P), and parathyroid hormone (PTH) levels were eva...

Langerhans cell histiocytosis (LCH) represents a spectrum of rare disorders characterised by idiopathic infiltration and accumulation of abnormal histiocytes (i.e. the Langerhans cells) within various tissues. Bone is the most frequently affected tissue in children with LCH, with unifocal involvement being more common than multifocal involvement. Some of these lesions can cause severe pain and lead to pathological fractures. We describe a case series of 2 patients who had rece...

Background: Primary hyperparathyroidism is a rare cause of persistent hypercalcemia in children and adolescents, with parathyroid adenoma being the most common underlying etiology. We are reporting a case of primary hyperparathyroidism due to parathyroid adenoma in an adolescent Pakistani girl with an unusual presentation of difficulty in walking due lower limb deformity (bilateral genu valgum).Case summary: A 13-year-ol...

Background: The calcium-sensing receptor (CaSR) regulates calcium metabolism by modulating PTH secretion, as well as by direct effect on osteoblasts and osteoclasts, balancing bone formation and resorption. Loss-of-function heterozygous mutations on CASR gene can lead to Familial Hypocalciuric Hypercalcemia (FHH; OMIM #145980), a benign autosomal dominant condition of undefined incidence. Dysplasia Epiphysealis Hemimelica (DEH; OMIM #127800) is a rare...

Background: Autosomal-dominant hypocalcemia hypercalciuria (ADHH) is rare a genetic disorder characterized by hypocalcemia, hypercalciuria, low or inappropriately normal levels of parathyroid hormone caused by heterozygous activating mutation of calcium sensing receptor. It may be familial or sporadic with variable genotype and phenotype correlation.Objective: We are reporting a de-novo heterozygous variant of the Ca...

Introduction: Osteogenesis imperfecta (OI) is a genetic disorder affecting connective tissue, characterized by decreased bone density, spontaneous fractures, and non-bone manifestations including dental anomalies, blue sclerae, hearing impairment, and joint hypermobility. While tendon ruptures are commonly associated with various systemic conditions, occurrences related to OI are less frequent. Patellar tendon (PT) rupture, particularly, is exceptionally uncom...

Introduction: Spondyloepimetaphyseal dysplasia (SEMD) (OMIM 603546) is a skeletal dysplasia that may present with a number of characteristics, including short stature, joint dislocations with laxity, limb malalignment and spinal deformity. It is believed that mutations in the KIF22 (kinesinfamilymember22) gene (16p11.2) may be the cause of this condition. In this case, we will present a case of leptodactylic type SEMD due to a KIF22 mutation.<p class="abst...

Background: Achondroplasia, the most prevalent skeletal dysplasia in children, is a multisystemic disease resulting from a common mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This mutation disrupts endochondral ossification, leading to disproportionate short stature. Historically, management has been primarily supportive due to the absence of targeted therapies. However, recent advancements have led to clinical trials for potential treatme...

Introduction: Kenny-Caffey Syndrome Type 2 (KCS2) is a rare autosomal dominant genetic disorder caused by variants in the FAM111A gene, leading to cortical thickening and medullary stenosis of long bones. It is characterized by primary hypoparathyroidism, electrolyte disturbances, skeletal dysplasia with delayed closure of the anterior fontanelle, hypertelorism, and short stature. Intellectual development is normal.Case Report:</...

Introduction: Brachydactyly is defined as shortening of metatarsal and metacarpal bones. There are different types of brachydactyly which can be isolated or associated with syndromes. The underlying gene defect has been identified in the majority of isolated brachydactylic and some syndromic forms. We herein report a Saudi male patient who presented with brachydactyly and short stature and found to have a rare form of skeletal dysplasia related to PTHLH gene m...

Healthcare transition (HCT) from paediatric to adult care is essential for many chronic illnesses and aims to improve patient outcomes, quality of life, treatment adherence and to encourage disease self-management. The adolescent health care clinic (AHCC) at King Abdulaziz Medical City (KAMC) in Jeddah, Saudi Arabia, was established in March 2018. Adolescents aged 14 to 18 years with a variety of endocrine disorders, such as adrenal disorders, puberty-related issues, bone dise...

Introduction: Intravenously given bisphosphonates are the treatment of choice for pediatric osteoporosis. As bone resorption is an essential part of the normal endochondral ossification process, there were concerns on the possible negative impact of bisphosphonates on longitudinal growth during childhood. The aim of this study is to report the impact of zoledronic acid (ZA) on height in pediatric patients with primary osteoporosis.<stron...

Objective: Elevated serum alkaline phosphatase (ALP) levels in pediatric patients can result from various etiologies, with transient hyperphosphatasemia, bone pathologies, and hepatic diseases being the most common. This study aimed to elucidate the etiological factors responsible for elevated ALP levels and to evaluate the clinical presentations of transient hyperphosphatasemia in these patients.Materials and Methods: T...

In this study, we investigated pre- and post-operative serum selenium levels in paediatric patients undergoing liver transplantation at a single centre of Kyoto University Hospital. Nineteen children admitted to the Intensive Care Centre of Kyoto University Hospital between 2020 and 2023 were included. Hyposelenaemia was present in 19/19 patients (100%). Up to one and two months postoperatively, 86% and 14% presented with hyposelenaemia, respectively. Hyposelenaemia passed rap...

Introduction: Denosumab is a RANK-L inhibitory monoclonal antibody approved in adults for treatment of aneurysmal bone cyst (ABC) and giant cell tumor (GCT). Although it has shown to improve postsurgical morbidity and stop progression in unresectable forms, there is limited data to guide its use in growing patients, with reports of endocrinology disorders.Aim: Evaluate frequency, presentation and treatment of adverse eff...

Background: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by rickets, muscle weakness, bone pain, nephrocalcinosis or nephrolithiasis. It is caused by mutation in SLC34A3 gene, encoding for renal sodium-phosphate cotransporter IIc (NaPi-IIc).Case: A patient aged 10 years came for evaluation for bone pain at lower limbs. He was born at full term from no...

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic variants in the ACAN gene.Case: Female, was referred to our clinic for short stature. Born at 34+3 weeks from a Thai mother and Caucasian father, birth weight was 2190g (0.14 SDS), length 45cm (0.21 SDS) and head circumference 31cm (-0.13 SDS). Pregnancy was obtained by in vitro fertilization...

Introduction-Aim: Aggrecan, encoded by the ACAN gene; is a cartilage- specific proteoglycan- containing protein that is densely found in the growth plate and intervertebral discs. Heterozygous variants have been reported in cases with short stature, mild skeletal dysplasia, and advanced bone age. The Aim of this study is to examine the phenotypic characteristics of pediatric cases with ACAN gene variants in Turkey.<stro...

Children affected by idiopathic infantile hypercalcemia (IIH) may develop polyuria, polydipsia, failure to thrive, developmental delay and nephrocalcinosis already during the first weeks of life. Elevated levels of activated 1-,25(OH)2D3 have been shown to cause the characteristic increase in serum calcium levels in this disorder. Two major underlying genetic causes have been identified so far: in IIH type 1 loss-of-function mutations in CYP24A1 ...

Introduction: Parathyroid carcinoma (PC) is a malignant neoplasm and occurs in patients with primary hyperparathyroidism (PHPT) in less than 1% of cases. There are few descriptions of PC in children in the literature. Clinical manifestations of PHPT in children are highly variable: the disease may present with dyspeptic manifestations, symptoms of intoxication, bone deformities, urolithiasis, cholelithiasis or be asymptomatic.Mat...

Introduction: Lysinuric protein intolerance (LPI) is a rare autosomal recessive condition caused by a mutation in the SLC7A7 gene. This gene provides instructions for production of y+LAT-1 protein transporter, without which there is disruption in transportation of important amino acids, namely lysine, arginine and ornithine. This results in a body depletion of these amino acids, resulting in insidious symptoms such as short stature, muscle weakness and bone fr...

Introduction: Vosoritide, a C-type natriuretic peptide analog, has emerged as the first therapeutic agent approved to enhance growth velocity in individuals with achondroplasia (ACH).Aim: To assess growth response to vosoritide in children with ACH under the care of a specialized multidisciplinary team (MDT).Methods: A retrospective study was conducted in our center on children dia...

Introduction: In hypoparathyroidism and pseudohypoparathyroidism, impaired parathyroid hormone (PTH) function leads to hypocalcaemia, often presenting in children with acute symptoms such as tetany, seizures, hyperreflexia. High-dose calcium supplementation is usually necessary. However, beyond severe symptoms relief, the primary goal of treatment should be to maintain serum calcium levels in the lower quartile of normal range, in order to prevent nephrocalcin...

Background and Aims: Extreme preterm birth (EPB), <30 weeks gestation, significantly impacts skeletal development due to decreased bone mineralization, with approximately 16-40% of EPBs developing metabolic bone disease of prematurity (MBDP). To investigate if MBDP persists into childhood with the current feeding protocols for EPBs, our objective was to compare bone mineral density (BMD) around (corrected) age 5 years in EPB children versus children born te...

Objectives: Osteogenesis imperfecta (OI) is a skeletal dysplasia affecting 1–2 individuals per 20,000 live births, but the burden of disease in children and adolescents remains unclear. We assessed the clinical and healthcare resource utilization (HCRU) burden of OI in US clinical practice.Methods: This retrospective cohort study included children and adolescents (aged ≤19 years) with OI (≥1 inpatient claim, ...

Background: Inflammatory bowel disease (IBD) is a chronic condition marked by immune-mediated inflammation of the gastrointestinal tract, significantly affecting bone growth and bone mineral density (BMD).Objective: This study aims to evaluate BMD in pediatric patients with IBD.Methods: The study involved thirty children diagnosed with IBD attending the Alexandria University Childr...

Introduction: Achondroplasia is the most common skeletal dysplasia, caused by a pathogenic FGFR3 variant, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide, a modified recombinant human C-type natriuretic peptide (rhCNP), was first approved by the European Medicines Agency in August 2021 and is now approved for treating genetically-confirmed achondroplasia in patients aged ≥4 months until closure of epiphys...