hrp0094p2-164 | Diabetes and insulin | ESPE2021

The Impact of COVID 19 Pandemic on Type 1 Diabetes Mellitus: An experience of a Tertiary Care Hospital in a resource limited country

Ayub Aqeela , Ijaz Sadaf , Qudrat Syeda Mamoona , Rani Tanzeela , Raziq Abdur , Ali Muhammad , Butt Taeed Ahmed ,

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...

hrp0097p1-48 | Diabetes and Insulin | ESPE2023

Changing Diabetes in Children Indonesia: Public-private partnership to improve healthcare access for children and adolescents with type 1 diabetes mellitus

B. Pulungan Aman , Amalia Gassani , Septira Salsabila , Vathania Nabila , Faizi Muhammad , Fadiana Ghaisani

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...

hrp0097p2-23 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Evaluation of etiology and clinical feature of precocious puberty among children presenting in a pediatric endocrinology department in a tertiary care hospital

Rani Rai Versha , Rathore Heeranand , Riaz Maira , Muhammad Laghari Taj , Khoso Zubair , Noor Ibrahim Mohsina

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 ...

hrp0095rfc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

The European Registries for Rare Bone and Mineral Conditions: Registering New Cases of Paediatric Rare Bone and Mineral Conditions Using an Electronic Reporting Tool

Luisa Priego Zurita Ana , Bryce Jillian , Alves Inês , Boarini Manila , Grasemann Corinna , Högler Wolfgang , Kassim Javaid M , Linglart Agnès , Mohnike Klaus , Mordenti Marina , Mortier Geert , Roos Marco , Sangiorgi Luca , Skarberg Rebecca , Soucek Ondrej , Faisal Ahmed S , Appelman-Dijkstra Natasha M

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 ...

hrp0097p1-411 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone): Collecting Core Data Elements and Clinician and Patient-Reported Outcomes

Luisa Priego Zurita Ana , Cherenko Mariya , Alves Inês , Boarini Manila , Grasemann Corinna , Högler Wolfgang , Kassim Javaid M , Linglart Agnès , Mohnike Klaus , Mordenti Marina , M de Rooij Tess , Roos Marco , Sangiorgi Luca , Skarberg Rebecca , Soucek Ondrej , Faisal Ahmed S , M Appelman-Dijkstra Natasha

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...

hrp0097p1-524 | Growth and Syndromes | ESPE2023

Two male siblings with extremely tall stature, moderate mental retardation and a deletion of ASH1L at chromosome 1q22.

Birkebæk Niels , Lildballe Dorte

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...

hrp0098p2-292 | Thyroid | ESPE2024

Normal Thyroid Gland Size in Healthy Turkish Newborns Living in An Iodine-Sufficient Area: Ultrasonographic Measurements and Comparison of Handheld and Standard Devices

Tuzcu Göksel , Deveci Sevim Reyhan , Gök Mustafa , Anık Ayşe , Anık Ahmet

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...

hrp0092p3-217 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Clinical and Molecular Spectrum of Patients with Disorders of Sex Development: A Single Center Experience

Özen Samim , Ata Aysun , Onay Hüseyin , Uzun Selin , Gökşen Damla , Özkinay Ferda , Burcu Özbaran Nazli , Ulman İbrahim , Darcan Şükran

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...

hrp0092p2-2 | Adrenals and HPA Axis | ESPE2019

CYP11A1 (Side-chain Cleavage Enzyme) Defect in Three Brothers Causing Glucocorticoid and Mineralocorticoid Deficiency and Development of Testicular Adrenal Rest Testicular Tumour

Kallali Wafa , Gray Ewan , Mehdi Muhammad Zain , Lindsay Robert , Metherell Lou , Buonocore Federica , Achermann John , Donaldson Malcolm

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...

hrp0094p2-63 | Bone, growth plate and mineral metabolism | ESPE2021

Diagnostic Challenges of Vitamin D-Dependent Rickets Type 1A (VDDR1A) caused by CYP27B1 mutation in Resource Limited Countries: A Case Series from Three families

Aftab Sommayya , Shaheen Tahir , Nadeem Anjum Muhammad , Imran Ahmed , Saeed Anjum , Ali Qureshi Abid , Cheema Huma Arshad ,

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...