ESPE Abstracts

Background: Vitamin D deficiency in adolescents can lead to rickets, osteomalacia, and skeletal deformities such as genu valgus. Chronic deficiency may also have implications for growth and endocrine function. This case report describes the clinical presentation, management, and outcome of severe Vitamin D deficiency in a 15-year-old black girl with genu valgus and abnormal gait.Case Presentation: The patient presented w...

In accordance with the present data on children with nutritional rickets, there are three stages for biochemical findings. We aim to update the stages of nutritional rickets. Biochemical manifestations of nutritional rickets were first described in 2005 as three stages of vitamin D deficiency. Table 1 shows the biochemical findings according to the rickets stage. Accordingly, the first stage is characterized by osteopenia and subclinical hypocalcemia. The second stage begins w...

Objectives: Estrogen is a key hormone to promote epiphyseal closure. So the inhibition of estrogen production can prolong the growth time of adolescent children. Therefore, aromatase inhibitors can be applied to adolescent children who has older bone age. In addition to reduction of the estrogen levels, it can promote linear growth. This study analyzed the safety and efficacy of letrozole in children for clinical reference.Method...

Objectives: By comparing the changes of bone turnover markers (BTMs) and bone mineral density (BMD) in girls with ICPP and RPP at different treatment time, To evaluate the effect of GnRHa treatment on bone metabolism in children.Methods: The girls with ICPP and RPP aged 7-10 years old: who undergoing treatment with GnRHa were selected, participants were categorized into the pre-treatment group (n = 61), half-yea...

Introduction: Bone metabolism disorders in the pediatric age are crucial areas of research, particularly in tertiary care settings where comprehensive evaluation and treatment are paramount.Aim: To assess the prevalence of bone metabolism disorders among pediatric patients admitted to the Endocrinology Department and to evaluate the medication prescribed for these conditions underlining the current practices and challeng...

Introduction: Mendelian diseases are rare individually but collectively are estimated to affect more than 5% of global population with more than 6000 different rare phenotypes including monogenic forms of diabetes. The proportion of individuals who possess a particular genotype and exhibit the expected phenotype is defined as the penetrance of that genotype. If everyone with the genotype presents with clinical symptoms by a particular age, then it is said to b...

The Loeys-Dietz-Syndrome is a connective tissue disease, which belongs to the group of Marfanoid syndromes. LDS is classified into 6 different subtypes according to the underlying mutation. All mutations are autosomal dominant inherited. Patients with Loeys-Dietz-Syndromes are characterized from cardiovascular and skeletal malformations, like aneurysms of aorta and other arteries, pectus excavatum, pectus carinatum, chicken- or funnel breast, arachnodactyly clubfoot, scoliosis...

Introduction: Non-nutritional rickets forms are often unrecognized. A late diagnosis could negatively affect the outcome. The aimof this study is to identify peculiar clinical and biochemical signs at the onset of non-nutritional rickets to promote early diagnosis.Materials and Methods: A retrospective monocentric observational study was conducted on a sample of outpatients consecutively evaluated at the pediatric endocr...

Background: X-linked hypophosphatemic rickets (XLH) is a relatively rare chronic bone metabolism disorder, caused by mutations in the X chromosome's PHEX gene. Fibroblast growth factor 23 (FGF23) levels rise, and bone metabolism is affected. The monoclonal antibody burosumab represents a novel therapeutic strategy for managing XLH, targeting the pathophysiology of the disorder. We present our experience of two XLH-diagnosed pediatric patients treated with...

Backgound: Cleidocranial dysplasia (CCD) is a rare genetic disorder characterized by skeletal abnormalities affecting various parts of the body, including the skull, clavicles, and long bones. The responsible gene is RUNX2 which plays a crucial role in the development of bone and cartilage. Sometimes growth hormone deficiency (GHD) can be associated with short stature in CCD.Case: A female patient was brought to...

Introduction: Hypophosphatasia is a rare genetic disorder characterized by impaired mineralization (“calcification”) of bones and teeth. However, there is variable presentation from asymptomatic to severe presentation.Case: Seven-Year-old boy presented at age of 2 weeks with excessive crying. On evaluation he was found to have low Alkaline Phosphatase (ALP) level. The parents are consanguineous with negative ...

Objective: To determine the periodic outcomes of systemic steroid use in ALL treatment and to develop preventive and early treatment approaches for osteoporosis.Materials and Methods: Our study group consisted of 34 patients who are under follow-up and treatment for ALL at our hospital. Patients receiving BFM ALL IC 2009 chemotherapy (CT) protocol and who completed the first 33 days of corticosteroid treatment (induction...

Micronutrients including vitamins and minerals are crucial for the body in small quantities. Their role in health is critical, with deficiencies leading to severe and sometimes irreversible life-threatening conditions. Micronutrients participate in cellular and biochemical processes, enabling the production of enzymes, hormones, cofactors and coenzymes. They ensure tissue maintenance, formation, and homeostasis, and support metabolic activities such as cell signaling, motility...

The measurement of serum FGF23 plays a pivotal role in the differential diagnosis of patients with hypophosphatemia. However, its interpretation may be difficult in some cases. We report the case of a child with rickets and severe hypophosphatemia, where both intact FGF23 (iFGF23), the active form, and C terminal FGF23 fragments (C-FGF23) were measured.Case report: A 5.7-year-old girl, born at term from first-grade-related Pakistani pare...

Intravenous pamidronate is the most commonly prescribed bisphosphonate in pediatrics and most data on efficacy and safety of pamidronate comes from studies on Osteogenesis imperfecta. We describe a case of a 14-year-old boy who presented with steroid induced osteoporosis. He had been taking Solondo (Prednisolone) and Methotrexate for rheumatoid arthritis since the age of 4, and he was experiencing severe short stature and bone pain. He was unable to ambulate independently due ...

Background: Traditionally patients with X-linked Hypophosphatemic Rickets (XLH) have been treated with conventional therapy, however, in 2018, the FDA approved Burosumab use in XLH patients.Objective: To investigate Burosumab effectiveness on pediatric patients with XLH by observing an improvement in serum phosphorus concentration and total rickets severity score (RSS) within 12 months period.<stro...

Vitamin D dependent rickets type 1A (VDDR-1A) is a very rare autosomal recessive disorder caused by mutations in the CYP27B1, which encodes vitamin D 1α-hydroxylase. A study was conducted to understand the clinical and genetic profile of patients with 1 alpha hydroxylase deficiency.Method: A retrospective evaluation of the clinical presentation, treatment and genetic profile of patients diagnosed with 1 alpha hydroxylase deficiency...

Background: The primary cause of calciopenic rickets is often vitamin D deficiency (VDD) or restricted calcium intake. It can also be caused by inactivation or resistance to vitamin D due to genetic mutations. Vitamin D genetic causes can present as early as 6 months of age in previous reports. We present here a 2-month-old baby with biochemical and radiological features highly suggestive of a metabolic bone disease likely genetic rickets. However, the baby al...

Introduction: Hypophosphatasia (HPP) is a rare, potentially fatal, either autosomal dominant or recessive genetic disorder caused by the loss of function of the tissue-non-specific isoenzyme of the serum alkaline phosphatase, due to pathogenic variants of the ALPL gene. The onset of the deleterious effects on bone metabolism is highly variable, ranging from mild cases with dental abnormalities to severe forms that can be life-threatening in infancy or early ch...

Background: Physical therapy plays a critical role in the multidisciplinary care of patients with rare bone disorders, such as osteogenesis imperfecta (OI). In Austria, similar to other European regions, the majority of OI patients depend on the availability of extramural (outpatient) therapists for their physical therapy needs. However, access to these therapists can be hindered by several factors, including long waiting times and the lack of coverage under p...

Introduction: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder defined by craniofacial, ectodermal and skeletal involvement.Materials and Methods: She is a girl aged 07 years, the second in a sibling of 4 from a non-consanguineous couple. Physiological antecedents, full term birth with a low birth weight of 02 Kg, artificial breastfeeding from birth, good pshycomotor development with a ...

Introduction: Congenital hypomagnesaemia is a rare autosomal recessive disease presenting with convulsions in the newborn period. Early diagnosis and treatment are required if neurodevelopmental delay is to be prevented.Materials and Methods: Retrospective study of patients with congenital hypomagnesemia followed in our department.Objective: To document the clinical presentation, d...

Introduction: McCune Albright syndrome (MAS) is a rare disease caused by mutations of the GNAS1 gene, clinically it is characterized by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty.Case Report: We present a clinical case of an 8-year-old boy with a cafe-au-lait skin pigmentation diagnosed with McCune-Albright syndrome in the Republic of Kazak...

Background: Hypercalcemia, with hyperparathyroidism in children, is a very rare disease. The symptoms of hypercalcemia in children present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive, and seizures. Hyperparathyroidism in children is induced from genetically malignant or benign parathyroid adenoma.Case: The case is a 12-year-old boy who had no si...