hrp0089p2-p326 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Pituitary Adenomas in Children and Adolescents: A Retrospective Single-Centre Analysis

Breil Thomas , Lorz Catherine , Choukair Daniela , Mittnacht Janna , Inta Ioana , Klose Daniela , Jesser Jessica , Schulze Egbert , Bettendorf Markus

Background: Paediatric pituitary adenomas are rare and mostly benign disorders which may secrete pituitary hormones. Prolactinomas account for half of all pituitary adenomas (PROLA), followed by non-secreting adenomas (20–40%; incidentalomas), adrenocorticotropic-hormone secreting adenomas (10–30%; ACTHA) and growth-hormone-secreting adenomas (5–15%; GHA).Methods: In this single-centre retrospective analysis clinical, biochemical and radio...

hrp0086p1-p99 | Bone & Mineral Metabolism P1 | ESPE2016

Automated Greulich-Pyle Bone Age Determinations in Children with Chronic Endocrine Diseases

Choukair Daniela , Huckmann Annette , Mittnacht Janna , Inta Ioana , Klose Daniela , Schenk Jens Peter , Bettendorf Markus , Thodberg Hans Henrik

Background: Prediction of adult height is a standard procedure in pediatric endocrinology, but it is associated with considerable interrater variability.Objective and hypotheses: To compare the new adult height prediction (PAH) method by automated bone age determination (BoneXpert™) with the conventional PAH method by Bayley Pinneau (BP) based on bone age determination according to Greulich & Pyle. Furthermore, to assess measures of bone health ...

hrp0097t5 | Section | ESPE2023

Clinical relevance of findings of the NGS panel for the pediatric patient with papillary thyroid carcinoma

Dujovne Noelia , Gazek Natalia , Vaiani Elisa , Ramirez Pablo , Perez Garrido Natalia , Marino Roxana , Lopez Marti Jessica , Ayarzabal Victor , Ciaccio Marta , Belgorosky Alicia , Herzovich Viviana

Background: In children, papillary thyroid cancer (PTC) is generally sporadic and may, less frequently, be part of an undiagnosed hereditary tumor predisposition syndrome (HTPS). Somatic molecular testing is useful to understand tumor etiology and behavior, predict prognosis, and possibly guide development of novel treatment strategies. RET/PTC fusions were found to be associated with an increased risk of invasive disease. The aims of our study were to analyze...

hrp0095fc6.2 | Sex Development and Gonads | ESPE2022

Predictive value of ovarian reserve parameters for follicle detection in ovarian tissue cryopreservation

Gruber Noah , Zajicek Michal , Volodarsky-Perel Alexander , Shai Daniel , Dick-Necula Daniela , Raanani Hila , Karplus Gideon , Kassif Eran , Weisz Boaz , Meirow Dror

Introduction: In youth, primary ovarian insufficiency (POI) is due to genetic, autoimmune, iatrogenic, and idiopathic etiologies. When POI is diagnosed early with evidence of an ovarian reserve, fertility preservation can be offered. When the girl is premenarchal, the preferred fertility preservation method is ovarian tissue cryopreservation (OTC) containing primordial follicles. In the past, when OTC was performed in an unselected group of children and adoles...

hrp0095p1-309 | Growth and Syndromes | ESPE2022

International Standard Growth Charts Overestimates Stunting Prevalence in Indonesia Compared to the Indonesian National Growth Chart

Natalia Hasibuan Susi , M Djer Mulyadi , A Andarie Attika , B Pulungan Aman

Background: Growth problems, such as stunting, are commonly found in daily pediatric practice. Stunting is a significant problem in developing countries, and is part of the Sustainable Development Goals (SDG) Goal 2 of ending hunger. In Indonesia, the rate of stunting in children under 5 years old is still considered high, despite improvement in quality of life due to rapid economic development. The rate of this improvement is unequal throughout the nation, wh...

hrp0095p2-6 | Adrenals and HPA Axis | ESPE2022

High carrier frequency of a nonsense p.W230X variant in HSD3B2 gene among Ossetians

Makretskaya , Kalinchenko Natalia , Tebieva Inna , Ionova Sofya , Marakhonov Andrey , Tiulpakov Anatoly , Zinchenko Nina Rena

Background: Congenital adrenal hyperplasia (CAH) caused by 3ß-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. We have previously demonstrated that a single nucleotide variant NM_000198.3:c.690G>A (P.W230X) in the homozygous state is a frequent cause of CAH among the indigenous population of North Ossetia-Alania represented by Ossetians.Aims: To stud...

hrp0092p1-165 | Adrenals and HPA Axis (1) | ESPE2019

How the Level of Antibodies Against 21-Hydroxylase Changes with Time in Patients with Addison's Disease

Sozaeva Leila , Nikankina Larisa , Malysheva Natalia , Kareva Maria , Orlova Elizaveta , Peterkova Valentina

Objectives: To investigate changes in levels of autoantibodies(Abs) against 21-hydroxylase(21OH) in APECED patients and in patients with isolated primary autoimmune adrenal insufficiency (AI) over time after manifestation of AI.Methods: 24 patients with APECED with AI and 5 patients with isolated autoimmune AI were recruited. APECED was confirmed by finding at least two major components of the disease and/or two mutation...

hrp0092p1-332 | Diabetes and Insulin (2) | ESPE2019

Targeted Next-Generation Sequencing Demonstrates High Frequency of MODY in Russian Children.

Zubkova Natalia , Laptev Dmitry , Sorokin Daniil , Makretskaya Nina , Petrov Vasily , Vasilyev Evgeny , Tiulpakov Anatoly

Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. At least 13 types of MODY have been described in the literature, the most frequent of which are MODY types 1–3. The frequency of different MODY types in children in Russia has not been studied before.<strong...

hrp0092lb-26 | Late Breaking Posters | ESPE2019

Dramatic Clinical Response to Lenvatinib in One Pediatric Patient with Advanced Metastatic Papillary Thyroid Carcinoma

Dujovne Noelia , Gazek Natalia , Pitoia Fabian , Ayarzabal Victor , Felipe Laura , Lopez Marti Jessica , Herzovich Viviana

Papillary thyroid cancer (PTC) is the most common thyroid tumor in childhood and adolescence. Most of these patients are referred with locally advanced and/or distant disease at the moment of diagnosis. Whenever is possible, these patients should be offered a total thyroidectomy and radioiodine remnant ablation. However, this approach is not always possible to perform, becoming these tumors as unresectable. These critical cases could benefit from the neoadjuvant treatment with...