hrp0092p1-71 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Clinical, Biochemical and Echocardiographic Evaluation of Patients with Congenital Rickets Due to Maternal Vitamin D Deficiency

Cayir Atilla , Akyigit Ali , Gullu Ufuk Utku , Kahveci Hasan , Yildiz Duran , Kurnaz Erdal , Vuralli Dogus , Kaya Abdulkadir , Demirbilek Huseyin

Objective: Vitamin deficient (VDD) rickets can manifest with skeletal (hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase and defective bone mineralization) and extra-skeletal findings. There are certain number of case reports and limited number of small scale studies reporting dilated cardiomyopathy due to VDD rickets.The aim of the present study is to evaluate the clinical, biochemical and echocardiographic features of...

hrp0089p2-p200 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Systemic Pseudohypoaldosteronism Type 1 Due to 3 Novel Mutations in SCNN1A and SCNN1B Genes; Report of 3 Cases

Cayir Atilla , Demirelli Yasar , Yildiz Duran , Kahveci Hasan , Yarali Oguzhan , Karaoglan Dogus Vuralli , Kurnaz Erdal , Demirbilek Huseyin

Objective: The systemic form pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized with defective sodium transport in many organ systems including kidney, lungs, colon, sweat glands and salivary glands. Homozygous or compound heterozygous loss-of-function mutations in the genes encoding amiloride sensitive epithelial sodium channel (ENaC) account for genetic causes of systemic PHA1.Case 1: Male patient presented with vomi...