hrp0095p1-548 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Legal degree of disability in childhood-craniopharyngioma survivors during long-term follow-up: Results of the HIT-ENDO study

Boekhoff Svenja , Eveslage Maria , Beckhaus Julia , Friedrich Carsten , L. Müller Hermann

Background: Cranioparyngiomas are rare low-grade embryonic malformational tumors of the sellar/parasellar region. The prognosis after diagnosis during childood and adolescence is influenced by endocrine and hypothalamic long-term sequelae. A legal status of the degree of disability (GdB), according to the German Social Code Book V that is worthy of support provides financial means for psychosocial rehabilitation and participation of craniopharyngioma survivors...

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...

hrp0095p2-289 | Thyroid | ESPE2022

Retrospective assessment of malignant thyroid nodules in a group of polish children and adolescents involving elastography

Borysewicz-Sańczyk Hanna , Sawicka Beata , Karny Agata , Bossowski Filip , Marcinkiewicz Katarzyna , Rusak Aleksandra , Dzięcioł Janusz , Bossowski Artur

Introduction: Thyroid nodules occur in 1.8% children which is not so often in comparison to adults (19–68%), but in children they appear to be at higher risk of malignancy (22–26% vs.5–10% respectively). It has been shown that the probability of thyroid nodules malignancy correlates with the presence of characteristic ultrasonographic features. Elastography - the noninvasive ultrasound imaging technique based on estimation of the tissue flexi...

hrp0092rfc4.4 | Fat Metabolism and Obesity Session | ESPE2019

The Novel Phosphatidylinositol-3-Kinase (PI3K) Inhibitor Alpelisib Effectively Inhibits Growth of PTEN Haploinsufficient Lipoma Cells

Kirstein Anna , Augustin Adrien , Kiess Wieland , Garten Antje

Background and Aim: Germline mutations in the tumor suppressor gene PTEN cause PTEN Hamartoma Tumor Syndrome (PHTS). Pediatric patients frequently develop lipomas. PTEN antagonizes the growth promoting PI3K/AKT/mTOR pathway. There is no current treatment option except surgery. Treatment attempts with the mTORC1 inhibitor Rapamycin could not reverse lipoma growth. Recently, lipomas associated with a related syndrome caused by mosaic activating PI3K mutations (P...

hrp0092t12 | Top 20 Poster | ESPE2019

The First Description of Large Pathogenic Deletion in ACAN Gene and Additional Cases with Novel Pathogenic ACAN Variants

Stavber Lana , Hovnik Tinka , Avbelj Stefanija Magdalena , Kotnik Primož , Bertok Sara , Lovrečic Luca , Kovac Jernej , Battelino Tadej

Introduction: Recently novel approaches, through implementation of next-generation sequencing (NGS) in clinical practice for genetic evaluation of idiopathic short stature, has permitted to identify new variants of genes which modulate function of growth plate, including heterozygous mutations of the aggrecan gene. Aggrecan, a large chondroitin sulfated proteoglycan, is a major structural component of the extracellular matrix of cartilage, including growth pla...

hrp0092p1-113 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Delayed Puberty in A 16-Year-Old Male Associated with Gamma Aminobutyric Acid Capsule Supplements

Blackburn James , Senniappan Senthil , Ahmed Syed Harris

Background: Delayed puberty is defined as the absence of physical signs of puberty 2 to 2.5 standard deviations greater than the mean and affects 2% of the adolescent population. We present a male patient aged 16, presenting with delayed puberty. On direct questioning the patient revealed he had been taking regular Gamma-Aminobutyric Acid (GABA). These supplements appeared to suppress the hypothalamic-pituitary-gonadal (HPG) axis.<st...

hrp0092p1-144 | Thyroid | ESPE2019

Investigation of Iodine Deficiency in the North of Siberia

Osokina Irina

Introduction: Siberia traditionally belonged to iodine-deficient regions. Cessation of iodine prevention in the 1990-s promoted the increase of iodine deficiency disorders (IDD) in Siberia. For iodine prophylaxis now is used iodized salt, and iodine preparations.The Aim: To estimate the iodine deficiency, the prevalence of IDD and the effectiveness of iodine prophylaxis in the North of Krasnoyarsk territory.<p class=...

hrp0092p1-166 | Adrenals and HPA Axis (1) | ESPE2019

Cortisol levels in glucagon stimulation tests in children evaluating for short stature: clinical and laboratorial correlations

Maliachova Olga , Triantafyllou Panagiota , Slavakis Aris , Dimitriadou Meropi , Christoforidis Athanasios

Background: Glucagon stimulation test (GST) is used to assess growth hormone (GH) and cortisol reserves in children being investigated for GH deficiency, as a small percentage of children with idiopathic GH deficiency can also exhibit deficiency in the adrenocorticotrophic hormone (ACTH)-cortisol axis. However, the extent of normal cortisol response after glucagon stimulation and its associations with clinical and laboratory parameters have not been thoroughly...

hrp0092p1-308 | Diabetes and Insulin (2) | ESPE2019

ABCC8 MODY in an Obese Adolescent Misdiagnosed with Type 2 Diabetes

Filibeli Berna Eroglu , Çatli Gönül , Manyas Hayrullah , Ayranci Ilkay , Kaya Özge Özer , Dündar Bumin

Introduction: An activating mutations in the ABCC8 gene cause both transient and permanent neonatal diabetes mellitus (DM) or MODY 12. In relation to the variant in the ABCC8 gene, patients may also present with either neonatal hyperinsulinism and/or DM later in life. Besides, the same variant can cause different phenotypic features among family members. Response to the sulfonylurea treatment may vary between patients.<...

hrp0092p1-362 | GH and IGFs (2) | ESPE2019

Sequencing Approach to Identify Candidate Genes Involved in Short Stature

Formicola Daniela , Pagliazzi Angelica , Peluso Francesca , Cardinale Antonella , Capasso Mario , Iolascon Achille , Tiberi Lucia , Vergani Debora , Vanderwert Fiorenza Irushani , Ricci Franco , Giglio Sabrina , Stagi Stefano

Background/Aims: Short stature is a common reason for presentation to paediatric endocrinology clinics. Getting to a diagnosis of short stature is a multi-step, complex process of tests that only in a few cases save a diagnosis. As genetic plays a strong role in height, we sought to identify known and novel genetic causes of short stature.Methods: We recruited 18 children with severe short stature, we conducted whole exo...