hrp0094p2-412 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

45,X/46,XY mosaicism: Phenotypic characteristics, growth, and gonadal features

Selveindran Nalini M , Wong Jeanne SL , Amin Arliena , Hong Janet YH

Introduction: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. The aim of this study is to provide outcomes, namely growth, comorbidities and gonadal function in patients with 45,X/46,XY mosaicism.Methods: This was a retrospective, longitudinal study conducted from January 2006 to January 2021 at a tertiary pediatric endocrine referral center. Patients' clinical presentation, karyotypes, height, hormonal profiles, imaging and histologic fi...

hrp0094p2-8 | Adrenals and HPA Axis | ESPE2021

High-dose steroids in the management of Paediatric Multisystem Inflammatory Syndrome Temporally associated with SARS-CoV-2 (PIMS-TS): Considering the hypothalamic-pituitary-adrenal axis

McGlacken-Byrne Sinead M , Johnson Mae , du Pre Pascale , Katugampola Harshini ,

Background: Steroid therapy has been used as a therapeutic strategy in the management of Paediatric Multisystem Inflammatory Syndrome Temporally associated with SARS-CoV-2 (PIMS-TS) with good effect. However, as always, exogenous steroid administration carries with it a risk of iatrogenic adrenal insufficiency.Aim: We characterise steroid therapy use in PIMS-TS and consider implications for hypothalamic-pituitary-adrenal...

hrp0094p2-79 | Bone, growth plate and mineral metabolism | ESPE2021

Clinical, molecular characterization and long-term follow-up of a patient with neonatal severe hyperparathyroidism

Padeira Goncalo , Carvalho Ana Isabel , Cavaco Branca M. , Virella Daniel , Lopes Lurdes Afonso ,

Introduction: Heterozygous inactivating mutations of the calcium-sensing receptor encoding gene (CASR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism (NSHPT), a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with FHH/NSHPT as well as the long-term follow-up of the proband.<p class="a...

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...

hrp0095fc3.6 | Early Life and Multisystem Endocrinology | ESPE2022

The European Registries for Rare Endocrine Conditions (EuRRECa): the Use of a Core Registry for Collecting Common Data Elements and Clinician and Patient Reported Outcomes

Luisa Priego Zurita Ana , Ali Salma R , Bryce Jillian , Cools Martine , Danne Thomas , Dekkers Olaf M. , Hiort Olaf , Katugampola Harshini , Linglart Agnes , Netchine Irene , Nordenström Anna , Patócs Attila , Pereira Alberto M , Persani Luca , Reisch Nicole , Smyth Arlene , Šumnik Zdenek , Taruscio Domenica , Edward Visser W , M Appelman-Dijkstra Natasha , Faisal Ahmed S

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

hrp0095rfc8.2 | Diabetes and Insulin | ESPE2022

The impact of age, body mass index, and pubertal stage on C-peptide at type 1 diabetes diagnosis

Ayça Cimbek Emine , Ercüment Beyhun Nazım , Karagüzel Gülay

Background: Assessment of beta-cell function in type 1 diabetes (T1D) has important implications in both clinical and research settings. Studies are limited by the lack of adjustments demonstrating the extent to which puberty influences C-peptide levels. The aim of this study was to evaluate the influence of pubertal stage as well as age and body mass index (BMI) on multiple C-peptide measures at T1D diagnosis.Methods: T...

hrp0095p1-27 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Effects of Pharmacological Inhibition of BCL-2 on Linear Bone Growth

Velentza Lilly , Wickström Malin , Kogner Per , Zaman Farasat , Sävendahl Lars

Introduction: The survival rates for childhood cancer have significantly increased over the past decades but the management of treatment-related complications remains challenging. Thus, the introduction of novel drugs requires careful investigation of potential off-target side effects. The developing skeleton is severely affected by the anticancer treatment which may result in growth retardation and short stature. Venetoclax is a selective Bcl-2 inhibitor whic...