hrp0094p2-92 | Bone, growth plate and mineral metabolism | ESPE2021

Pseudohypoparathyroidism with hypokalemia and hypomagnesemia: association or separate entity?

Amin Arliena , Cheng Hooi Peng , Hua Hong Janet Yeow , Selveindran Nalini M , Lyn Wong Jeanne Sze ,

Introduction: Pseudohypoparathyroidism (PHP) is a group of heterogenous disorders characterized by end organ resistance to parathyroid hormone (PTH) action. In 1942, Fuller Albright first described the phenotype of Albright Hereditary Osteodystrophy (AHO) associated with end organ hormone resistance (brachydactyly, rounded face, short stature, central obesity, subcutaneous ossifications, and variable degrees of mental retardation). Recently EuroPHP network pro...

hrp0094p2-144 | Diabetes and insulin | ESPE2021

Is Type 1 Diabetes Mellitus Predictable? Investigation of Predictive Markers n Siblings of Probands with Newly Diagnosed Type 1 Diabetes Mellitus

Albayrak Serpil , Karaoglan Murat , Yıldırım Ahmet , Keskin Mehmet ,

Background/Aim: Type 1 diabetes Mellitus (T1DM) often presents with clear clinical signs after a long-term asymptomatic autoimmune process. This long and silent period has been leading to an increase in awareness day by day in order to prevent and predict the development of the disease. Among the well-known genetic and environmental risk factors, close relatives of the index cases constitute a population that is quite suitable for predicting and preventing the...

hrp0094p2-360 | Pituitary, neuroendocrinology and puberty | ESPE2021

In vivo magnetic resonance spectroscopy as a non-invasive tool for the identification of a sellar tumour in a boy with precocious puberty.

Kosteria Ioanna , M. Gavra Maria , Vlachopapadopoulou Elpis-Athina , A. Verganelakis Dimitrios , Dikaiakou Eirini , Vartzelis Georgios , Michalakos Stefanos ,

Aim: To highlight the role of in-vivo magnetic resonance spectroscopy (MRS), as a non-invasive tool that can clarify the specific etiology of a sellar tumour in a boy with precocious puberty.Case presentation: A 4-year-old boy was admitted due to repeated episodes of focal seizures with fixed gaze, head turn to the right, and postictal drowsiness. Parents reported episodes of inappropriate laughter ("gelastic seizures") in the pr...

hrp0094p2-369 | Pituitary, neuroendocrinology and puberty | ESPE2021

6-Month GnRHa Formulations Are a Good Choice During the COVID-19 Pandemic and Beyond

R. Benson Matthew , N. Atkinson Stuart , M. Boldt-Houle Deborah , Miller Bradley S. ,

Introduction: Achieving/maintaining effective hormone suppression is fundamental in treating Central Precocious Puberty(CPP). CPP patients are vulnerable to late dosing as they cannot self-administer and require clinic/hospital visits for injections, currently exacerbated by COVID-19. In children, the hypothalamic-pituitary-gonadal axis may rebound faster than elderly oncology patients, so hormone escapes are possible with late dosing. Additionally, the stimul...

hrp0097fc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Human breast milk-derived exosomes promote growth plate cell lines in vitro

Eren Simge , Kabataş Bilge , Ünsal Naz , Yıldırım Merve , Eren Olcay

Introduction: Human breast milk (HBM) contains various components with critical roles in supporting early human growth and development. HBM is highly enriched in miRNAs, short, non-coding RNAs of 18 to 25 nucleotides in length, involved in the development, differentiation, proliferation, metabolism, and death of cells and tissues. miRNAs have been linked to growth control, apoptosis, epigenetic modifications, developmental programming, stem cell differentiatio...

hrp0097fc10.5 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

MCM4 deficiency causing Natural Killer and Glucocorticoid Deficiency with DNA repair defect (AR-NKGCD) - a large cases series from the Irish Traveller population

Fedorczak Anna , Reynolds Claire , Somers Eric , Ann Lynch Sally , Leahy Ronan , M O’Connell Susan

A new condition, unique to Irish Travellers, was first described clinically as autosomal recessive natural killer and glucocorticoid deficiency (AR-NKGCD) ORPHA:75391 in 2008 and was attributed to recessive founder variant in MCM4/PRKDC gene in 2012. Irish Travellers are an indigenous endogamous population numbering ~40,000 in the Republic of Ireland. AR-NKGCD is characterised by short stature, glucocorticoid and natural killer cell deficiency and is a disorder of DNA repair. ...

hrp0097rfc9.6 | Diabetes and insulin 2 | ESPE2023

Wharton jelly derived mesenchymal stem cells exosomes protect pancreatic beta cells from inflamation

Eren Simge , Yıldırım Merve , Kabataş Bilge , Ünsal Naz , Eren Olcay

Background: Type 1 diabetes is an autoimmune disease initiated by the invasion of pancreatic islets by immune cells that selectively kill the β cells. The loss of beta cells in Type I diabetes ultimately leads to insulin dependence and major complications that are difficult to manage by insulin injections. Regulation of immune response is a key strategy to control the autoimmunity in diabetic patients. Mesenchymal stem cells have been shown to have an app...

hrp0097p1-37 | Diabetes and Insulin | ESPE2023

Dietary Intake in Children and youth with Type 1 Diabetes from Different Ethnic Backgrounds and its Relation to Different Metabolic Parameters

M. Heifetz Eliyahu , Avnon- Ziv Carmit , Auerbauch Adi , Dagan Tal , Hershkop Karen , Levy-Khademi Floris

Background: Medical nutrition therapy is one of the cornerstones of the treatment of type 1 diabetes. Nutrition is affected by many factors including ethnicity, socioeconomic background, and culture.Objectives: To evaluate the nutritional status in a cohort of children with type 1 diabetes from different ethnic backgrounds and to seek differences among the groups. In addition determine the effect of nutrition on metaboli...

hrp0097p1-81 | Fat, Metabolism and Obesity | ESPE2023

Comparison of HbA1c and OGTT for the identification of type 2 diabetes in obese children above 10 years of age.

A. M. Dimarsha de Silva U. , Askin Shereen , Jayamanne Bdw , Atapattu Navoda

Background: Childhood obesity is a growing global problem that linked with health issues including type II diabetes. Early screening and diagnosis using OGTT and/or HbA1c of obese children is recommended in order to minimize type II diabetic risk. OGTT requires fasting and two venesections impeding the child’s compliance. In contrast, hemoglobin A1c (HbA1c) is a convenient test and evaluation of HbA1C as a diagnostic tool of type II diabetes in the obese...

hrp0097p1-550 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The endocrine phenotype of SWI/SNF-associated Coffin-Siris syndrome includes pituitary endocrinopathies, pituitary hypoplasia, and septo-optic dysplasia

M McGlacken-Byrne1 Sinead , Wakeling Emma , Gaston-Massuet Carles , Peters Catherine , Dattani Mehul

Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). Endocrinopathies have been associated with CSS, including idiopathic short stature, hyperinsulinism, obesity, growth hormone deficiency, and cryptorchidism. Here, we describe the endocrine features of a series of children with S...