hrp0082p2-d3-308 | Bone (2) | ESPE2014

A Case of Vitamin D Dependent Rickets Type 1 with a Novel Mutation in CYP27B1 (25-OH Vitamin D-1-α-Hydroxylase) Gene

Ozcabi Bahar , Evliyaoglu Olcay , Ercan Oya , Tahmiscioglu Feride , Jaferova Sevinc , Oruc Cigdem , Adrovic Amra

Background: Vitamin D dependent type 1 rickets is a rare, autosomal-dominantly inherited disorder due to an inactivating mutation in CYP27B1 (25-OH vitamin D-1-α-hydroxylase) gene. It is characterized by early onset of rickets with hypocalcemia. We report a boy admitted with symptoms of hypocalcemia and who carried a novel mutation in CYP27B1 gene.Case: The patient was admitted with tetany at the age of 12 months. When he had his first convulsion, h...

hrp0084p3-595 | Adrenals | ESPE2015

Three Siblings with Corticosterone Methyloxidase Deficiency Type 2 due to c.1175T>C Mutation +a Novel c.788T>A Mutation in CYP11B2 Gene

Ozcabi Bahar , Evliyaoglu Olcay , Ercan Oya , Bucak Feride Tahmiscioglu , Adrovic Amra , Ceylaner Serdar

Background: Corticosterone methyloxidase deficiency (CMOD) type 2 is an autosomal recessive disorder which presents with salt loss and failure to thrive in early childhood. We present three siblings with CMOD type 2 whose genetic analyses revealed a known c.1175T>C mutation (homozygous) and a novel c.788T>A mutation (homozygous) in CYP11B2 gene.Case 1: The patient was admitted with salt loss and failure to thrive at the age of 6 months; ...

hrp0097p1-174 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Ovarian Reserve in Children with Juvenile İdiopathic Arthritis Using Biologic Disease-Modifying Anti-Rheumatic Drugs

Özer Yavuz , Yıldız Mehmet , Turan Hande , Tarçın Gürkan , Bingöl Aydın Dilek , Günalp Aybüke , Haşlak Fatih , Kiliç Konte Elif , Aslan Esma , Koker Oya , Bayramoğlu Elvan , Şahin Sezgin , Adrovic Amra , Barut Kenan , Kasapçopur Özgür , Evliyaoğlu Olcay

The aim of the study is to assess the effect of juvenile idiopathic arthritis (JIA) and biologic disease-modifying anti-rheumatic drugs (bDMARD) on ovarian reserve in children. A cross-sectional study was performed from March 2021 to March 2022 and included 81 patients with JIA and 49 healthy children. Serum anti-Müllerian hormone (AMH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol levels were analyzed using electrochemiluminescence methods....