hrp0097p1-314 | Growth and Syndromes | ESPE2023

A case report of Noonan-like syndrome and refractory treatment for increasing growth

Denaite Dovile , Navardauskaite Ruta , Tomas Preiksa Romualdas

Introduction: Noonan syndrome-like syndrome with loose anagen hair (NSLH) is a RASopathy due to a missense mutation in the SHOCK2 gene. NSLH is distinguished by facial dysmorphisms, growth retardation, various neurocognitive impairment, and cardiac defects. Extremely short stature is frequently observed in patients with SHOC2 gene mutation. Treatment by growth hormone (GH) due to moderate GH deficiency or IGF-1 due to GH insensitivity may be insufficient. We r...

hrp0095p1-2 | Adrenals and HPA Axis | ESPE2022

Growth evaluation by applying the QEPS growth model in patients with CAH

Navardauskaite Ruta , Verkauskiene Rasa , Niklasson Aimon , F.M Nierop Andreas , Albertsson-Wikland Kerstin , Holmgren Anton

Objective: Patients with congenital adrenal hyperplasia (CAH) seldom achieve their target height. Early adrenarche may accelerate bone age maturation and affect adult height. The QEPS-growth-model have been used for developing growth references and investigating healthy/pathological growth, however, not before used in individuals with endocrine disorders. This study aimed to evaluate growth patterns in CAH-patients with the QEPS-model.<s...

hrp0094p1-154 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

The Evaluation of Accuracy and Effectiveness of Newborn Screening for Congenital Adrenal Hyperplasia in Lithuania

Navardauskaite Ruta , Baneviciute Kornelija , Mockeviciene Giedre , Songailiene Jurgita , Grigalionienė Kristina , Smirnova Marija , Utkus Algirdas , Verkauskiene Rasa ,

Introduction: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programmes are not always sensitive and effective enough to detect the disease. We aimed to evaluate the specificity, sensitivity and efficiency of the national NBS for CAH in Lithuania.Methods: retrospective study...

hrp0082p2-d1-515 | Pituitary | ESPE2014

High Prevalence of PROP1 Gene Defects Among Patients with Multiple Pituitary Hormone Deficiency in Lithuania

Navardauskaite Ruta , Dusatkova Petra , Obermannova Barbora , Pfaeffle Roland W , Blum Werner F , Adukauskiene Dalia , Smetanina Natalija , Cinek Ondrej , Verkauskiene Rasa , Lebl Jan

Background: Mutations in PROP1 are the most common known genetic cause of congenital multiple pituitary hormone deficiency (MPHD).Objective and hypotheses: Aim of our study was to clinically and genetically characterize a cohort of Lithuanian patients with MPHD.Method: Seventy-six Lithuanian MPHD patients were tested for PROP1 gene by Sanger sequencing. Hormonal investigations, pituitary imaging and GH therapy wer...

hrp0095p1-136 | Multisystem Endocrine Disorders | ESPE2022

Time Taken to Reach a Diagnosis In Children With XY DSD In Expert Endocrine Centres In Europe

Ali Salma , Bryce Jillian , Hiort Olaf , Verrijn Stuart Annemarie , Cools Martine , Luczay Andrea , De Sanctis Luisa , Baronio Federico , Navardauskaite Ruta , Claahsen-van der Grinten Hedi , Yeste Diego , Gan Hoong-Wei , Persani Luca , Capalbo Donatello , Nordenstrom Anna , Faisal Ahmed S.

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...

hrp0094p1-72 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Clinical characteristics of children with Congenital Hyperinsulinism: Results from the European Registries for Rare Endocrine Conditions (EuRRECa) Project

Plachy Lukas , Bryce Jillian , Mohnike Klaus , Gan Hoong-Wei , Shaikh Guftar , Rozenkova Klara , Mozzillo Enza , Maltoni Giulio , Navardauskaite Ruta , Casteels Kristina , Stuart Annemarie Verrijn , Dastamani Antonia , Empting Susann , Verkauskiene Rasa , Ahmed S. Faisal , Sumnik Zdenek ,

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...