ESPE Abstracts

Background: Digital health is becoming increasingly important worldwide. However, there is a lack of research on barriers to the implementation of digital health solutions for growth disorders in the Gulf Region. Participatory research can help to understand barriers faced by different stakeholders, design effective solutions and evaluate their implementation, whilst taking cultural aspects into consideration. Involving clinicians in understanding barriers to ...

Introduction: Congenital lipoid adrenal hyperplasia is the most severe form of congenital adrenal hyperplasia and is rarely seen. Steroid synthesis cannot be done in the adrenal gonads. Adrenal glands have hyperplasia and lipid accumulation. Male babies are born to girls. Most of the cases are lost with severe adrenal insufficiency. Patients diagnosed and treated at supraphysiological doses during neonatal period. Here we present a case of lipoid adrenal hyperplasia diagnosed ...

Objective: Thyroid hormone resistance is a rare autosomal dominant disease. In the pathogenesis of this disease mutations have been reported in two types of thyroid hormone receptors, called alpha and beta. Deletions or mutations in cofactors required to demonstrate receptor effect also reported in the beta receptor gene. The symptoms vary according to the cases. Here; a case of thyroid hormone resistance which is noticed by chance and not treated is presented.<p class="ab...

Background: Hepatocyte nuclear factor 1β (HNF1β) is a critical transcription factor that regulates the development of the kidneys, pancreas, liver and genital tract. Patients with deletions and mutations in the HNF1 β gene present with renal and extrarenal manifestations. The most important extrarenal finding is diabetes, also known as MODY5. Although it is generally diagnosed with hyperglycemia, diabetic ketoacidosis is rarely seen.<p class...

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...

Primary adrenal insufficiency (PAI) is a rare, potentially life-threatening, condition due to abnormalities of steroid biosynthesis or of adrenal gland development and responsiveness. PAI is characterized by impaired secretion of glucocorticoids and can be accompanied by mineralocorticoid and adrenal androgens deficiency or excess, depending on the underlying cause. In adults, the most common etiology is represented by autoimmunity. In contrast, the disease in children is more...

Purpose: Vitamin D deficiency (VDD) is very common nowadays in children as well as in adults, probably due to decreased exposure to sunlight. In Korea, the prevalence of VDD was 47% in teenage boys and 65% in teenage girls. However, the optimal dosage regimen for correcting deficiency is unknown. We investigate the change of serum 25(OH) vitamin D concentration according to the treatment dosage and duration in VDD.Methods...

Introduction: Hypophosphatasia (HPP) is a rare autosomal recessive or dominant genetic disorder characterized by the abnormal development of bones and teeth and deficiency of tissue non-specific alkaline phosphatase activity. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. The specific symptoms can vary greatly from one person to another, sometimes even among membe...

Introduction: More than 1,106,500 worldwide children were living with type1 diabetes mellitus (T1DM) in 20171. Researchers concluded that better glycaemic control is associating with lesser complications of this chronic condition. Target HbA1c is recommended to be <48mmol/mol(<6.5%) and <53mmol/mol(<7%) as per NICE and ISPAD respectively2. The glycaemic control represented by HbA1c was worse amongst the British gir...