ESPE Abstracts

Background and Aims: Disorders of sex development (DSD) are a group of rare congenital conditions. Clinical management of patients with DSD is often difficult and requires multidisciplinary approach.Material and methods: Twenty-eight patients aged 1 to 18 years with different forms of 46, XY DSD were included. The subjects have undergone a clinical examination, karyotype analysis followed by the next generation sequencing (NGS) using MiS...

Background: Adrenal insufficiency is a severe condition, which occurs for numerous different reasons. Diseases often require a period or even a lifelong treatment of cortisone and/or mineralocorticoid. Ensuring that families of patients who suffer from adrenal insufficiency have a high level of understanding and knowledge of the disease from the outset is key to them comprehending the severity of the disease, which in turn increases the chances of good complia...

Background: Due to fewer girls than boys being GH-treated, after 50yrs the knowledge about sex-differences in both GH-response and GH-responsiveness before and during puberty remains limited.Aim: To describe factors explaining growth response to GH-treatment, separately in girls and boys from GHstart to adult height (AH).Methods: Children diagnosed with IGHD/ISS/SGA from GH-SAFETY-...

Introduction: Type 1 diabetes mellitus (T1D) is the most common form of carbohydrate metabolism disorder in childhood. There are also monogenic forms of diabetes. In the world literature, there are isolated mentions of the combination of monogenic and autoimmune forms of diabetes mellitus.Clinical case: A 10-year-old obese patient presented with hyperglycemia. At hospitalization: height 168 cm, weight 87 kg, SDS BMI +3.0. Glycemia 14.4 m...

Background: Since the 1980s, growth hormone (GH) treatment has been administered to children as daily subcutaneous (SC) injections. GH-treatment is extremely costly, and requires a high level of training and education, otherwise there is a risk of a poor response to treatment by the patient. This can lead to a waste of time and money for the family. The key to good adherence and successful treatment is patient understanding of the growth/metabolic problem and ...

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea. Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of 13 mmol/l was detected. Insulin therapy was not prescribed due to the parent’s refu...

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-secreted hormone that regulates phosphorus homeostasis, result in renal phosphate wasting leading to rickets or osteomalacia. Patterns leading to FGF23 excess are still unknown. Recently, FGF23 elevated rickets has been associated with epidermal nevus syndrome, designating the cutaneous skeletal hypophosphatemia syndrome (CSHS). The clinical picture is not completely defined as, to date, only a...

X-linked hypophosphataemia (XLH) is a dominant disorder caused by mutations in PHEX (located at Xp22.1), associated with rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children. The characteristics and severity of XLH vary between patients. Early diagnosis and specific treatment is usually decisive to improve short and long term patient outcomes. We describe the variability of phenotype in two sisters carrying the ...

Introduction: Neonatal diabetes is a rare condition that can present in the first months of life. Neonatal diabetes has more than 20 genetic origins that are currently known. About 40% of these patients carry mutations in KCNJ11 and ABCC8 genes, which impair the pancreatic beta-cell K-ATP channels and can be treated with oral sulfonylureas. The purpose of this case report is to present a patient diagnosed with neonatal diabetes and the subsequent management of...

Background: Practicing as a Pediatric Endocrinologist in Armenia means living in a middle- to low-income country with semi-closed borders associated with war and conflicts. There are therefore fewer opportunities to attend educational events or training at highly rated hospitals worldwide to improve knowledge and skills on pediatric endocrinology. In April 2023 the Endocrine Society of Pediatric Endocrinologists (ESPE) held the ESPE Caucasus & Central Asia...