hrp0094p2-311 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Efficacy of recombinant growth hormone therapy in TRPS 1 syndrome coexisting with growth hormone deficiency.

Dyrka Kamil , Obara-Moszynska Monika , Niedziela Marek ,

Introduction: The tricho-rhino-phalangeal syndrome type 1 (TRPS 1), also known as Langer-Giedion syndrome, is an uncommon genetic disorder. This disease is characterized by short stature, cone-shaped ends of the long bones (epiphyses), and distinctive facial features linked to skeletal abnormalities since early childhood. The experience with recombinant growth hormone (rGH) therapy in TRPS 1 is relatively poor. The aim of the study is to present the results of...

hrp0095p2-219 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central diabetes insipidus in children – analysis of the different clinical picture

Dyrka Kamil , Dzialach Lukasz , Derwich Katarzyna , Niedziela Marek , Obara-Moszynska Monika

Background: Central diabetes insipidus (CDI) is a rare disorder in the pediatric population. CDI may be the first symptom of a brain tumor, metastatic lesions, or granulomas. The close follow-up of patients with CDI may early detect pathologic processes, especially intracranial tumors.Methods: We present four pediatric patients diagnosed with CDI of different etiology.Pat...