hrp0094p2-315 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Characteristics of Patients with Noonan Syndrome Carrying a PTPN11 Mutation: The Recombinant Growth Hormone Treatment and Long-Term Follow-up

Karacan Kucukali Gulin , Okur Iclal , Erdeve Senay Savas , Muratoglu Sahin Nursel , Keskin Meliksah , Cetinkaya Semra ,

Introduction: Noonan Syndrome (NS) is a heterogeneous group of diseases with a genetic etiology affecting the RAS/MAPK signaling pathway known as RASopathy. Genes known to cause NS are PTPN11, KRAS, SOS1, RAF1, BRAF, SHOC2 and RIT1. There are sufficient studies indicating that recombinant growth hormone (rhGH) therapy can be given without increasing risk of developing cancer in NS cases with PTPN11 mutations from different centers. In this study, it was aimed ...

hrp0095fc5.6 | Adrenals and HPA Axis | ESPE2022

ACTH Stimulation Decreases Ischemia-Modified Albumin Levels In Vivo

Muratoglu Sahin Nursel , Esen Senem , Savas Erdeve Senay , Budak Fatma , Neselioglu Salim , Erel Ozcan , Cetinkaya Semra

Introduction: The production of ischemia-modified albumin (IMA) is associated with the production of reactive oxygen species modifying the metal-binding sites of albumin. IMA is considered a non-specific early biomarker in the evaluation of oxidative stress status. Cortisol is known to trigger anti-inflammatory actions through genomic and non-genomic pathways that eventually lead to decreased production of cytokines, chemokines, and inducible nitric oxide synt...

hrp0086p2-p176 | Bone & Mineral Metabolism P2 | ESPE2016

A Case: Hydrocephalus Secondary to Suprasellar Arachnoid Cyst with Reset Osmostat and Isolated GH Deficiency

Kurnaz Erdal , Aycan Zehra , Akdemır Ozısık Pınar , Keskin Meliksah , Bayramoglu Elvan , Muratoglu Sahin Nursel , Savas Erdeve Senay , Cetinkaya Semra

Background: Hyponatremia is defined as a serum sodium level below 135 mEq/l. It is associated with increased morbidity and mortality. Hyponatremia has many causes and can be classified as acute/chronic or hypo/hypo/euvolemic. The main rule in fluid and electrolyte disorders (and especially in hyponatremia) is excluding hypothyroidism and hypocortisolism and then making the correct diagnosis. Hypothyroidism and hypocorticolism can also cause euvolemic chronic hyponatremia but t...

hrp0095p2-24 | Adrenals and HPA Axis | ESPE2022

Long-Term Follow-Up of a Case with Clinical Image Syndrome

Okur Iclal , Arasli-Yilmaz Aslihan , Elmaogullari Selin , Karacan-Kucukali Gulin , Keskin Meliksah , Muratoglu-Sahin Nursel , Kurnaz Erdal , Savas-Erdeve Senay , Cetinkaya Semra

Introduction: IMAGE Syndrome (#614732) is an autosomal dominant inherited syndrome as a result of CDKN1C mutation characterized by the association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Here, long-term follow-up of a case with clinical IMAGE syndrome, no genetic mutation was detected, will be presented.Case: A three-month-old baby boy was brought wi...