hrp0092p2-240 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Bone Age Determination in Girls with Early Puberty and Limitations of Adult Height Prediction: Can Automated Evaluation (BoneXpert™)be a Solution?

Yesiltepe-Mutlu Gul , Capaci Merve , Uzunkopru Gizem , Hatun Sükrü

Introduction: One of the factors affecting the treatment decision in early puberty is bone age (BA) evaluation and adult height prediction (AHP), accordingly. These calculations have certain limitations. In this study, we aimed to compare the AHP results calculated by Bayley-Pinneau (BP) and Roche-Wainer-Thissen(RWT) methods based on BA evaluation by using Greulich-Pyle(GP) atlas and BoneXpert™ software.Methods: A t...

hrp0089rfc5.2 | Thyroid | ESPE2018

Analysis of Chosen Polymorphisms rs7138803 A/G - FAIM2, rs7093069 C/T - IL-2RA, rs5742909 C/T - CTLA-4 in Pathogenesis of Hashimoto’s Thyroiditis in Children

Bossowski Artur , Gościk Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Aversa Tommaso , Corica Domenico , Krętowski Adam , Waśniewska Małgorzata

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

hrp0089p2-p318 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

SOX3 Gene Duplication Associated with Midline CNS Malformations, Hypopituitarism and Neurodevelopmental Abnormalities: 5 Unrelated Cases

Chawla Garima , Nambisan Aparna K.R. , Arya Ved B. , Muhi-Iddin Nadia , Vamvakiti Katia , Ajzensztejn Michal , Hulse Tony , Buchanan Charles R. , Kapoor Ritika R.

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...