ESPE Abstracts

Background and Objectives: Managing type 1 diabetes (TIDM) in covid pandemic is a real challenge in resource limited countries like Pakistan. This study was aimed to determine the effects of covid 19 in managing type 1 diabetes in resource limited countries.Methods: Cross-sectional observational study, included all type 1 diabetes patients who were already enrolled in endocrine and diabetes clinic and were on regular fol...

Background: In 2022, 1.52 million children and adolescents worldwide were diagnosed with type 1 diabetes mellitus (T1DM). During COVID-19, diabetic ketoacidosis (DKA) episodes in newly-onset and established cases increased in 44.2% and 30.1% of paediatric diabetes centres, respectively. In 2017-2019, 1,249 children were diagnosed with T1DM in Indonesia, and 70% were diagnosed with DKA at diagnosis in 2017. Changing Diabetes in Children (CDiC) is a public-priva...

Keywords: Central Precocious Puberty, Girls, Peripheral, IdiopathicBackground: Precocious puberty is thought to occur in 1 in 5000–10,000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence.Objective: To find the frequency of precocious ...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) are closely linked to the European Reference Networks on Rare Bone Diseases (ERN BOND) and Rare Endocrine Conditions (Endo-ERN) and with its registry EuRRECa. It is open to all professionals involved in the care of individuals with rare bone and mineral conditions. EuRR-Bone offers an electronic reporting tool (e-REC) for capturing newly encountered cases without collecting ...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) was created in collaboration with the European Reference Network on Rare Bone Diseases (ERN BOND) and the European Reference Network on Rare Endocrine Conditions (Endo-ERN) to support the needs of healthcare providers, patients and researchers by providing high-quality registries. The Core Registry collects a set of Core Data Elements as well as longitudinal patient and clin...

Background: Several symmetric monogenic overgrowth syndromes with tall stature have been described, which is why children with syndromic tall stature should undergo comprehensive diagnostics. Tall stature has not been associated with chromosome 1.Objective: To present height growth and diagnostics in two male siblings with extreme tall stature and moderate mental retardation. Both had a deletion of ASH1L at chro...

Objective: The primary aimof this study was to determine the normal values of thyroid gland size measured by ultrasonography (US) in healthy term newborn infants. The secondary objective was to compare the measurements made with handheld and standard US devices.Materials and Methods: Healthy newborn infants aged 0-30 days were included in the study. Thyroid size was measured twice: first between days 1-2 and again betwee...

Introduction: Disorders of sex development (DSD) constitute a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.Objective: To evaluate clinical and genetic features of childhood DSD cases.Materials and Methods: DSD patients followed up between the years of 1981-2018 were evaluated in t...

Background: CYP11A1 gene encodes the cholesterol side-chain cleavage enzyme, P450scc, which plays a key role in the initial steps of steroidogenesis. CYP11A1 insufficiency lead to a variable phenotype ranging from severe early onset primary adrenal insufficiency (PAI) in the neonatal period,with 46,XY DSD; to late-onset PAI with normal genitalia.Objective: Detail the phenotype of a family sharing newly described...

Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...