hrp0089p3-p036 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A Novel COL1A2 Gene Mutation in a Turkish Family with Osteogenesis Imperfecta

Binay Cigdem , Ciftci Ozcan

Background: Osteogenesis imperfecta (OI) is a rare congenital bone disease associated with defects in type I collagen synthesis resulting increased bone fragility, low bone mass, connective tissue manifestations and short stature. The majority of the types of OI are caused by autosomal dominant mutation in COL1A1 and COL1A2 genes. Here we showed the new, novel COL1A2 gene mutation at the heterozygous state in a family with OI.C...

hrp0082p1-d3-16 | Adrenals & HP Axis (1) | ESPE2014

A Novel Mutation in Exon 5 of TP53 Gene in a Familial Adrenocortical Carcinoma

Simsek Enver , Binay Cigdem , Tokar Baran , Dundar Emine , Demiral Meliha

Background: Adrenocortical carcinoma (ADCC) is a rare cancer in children and differs significantly in epidemiology, clinical characteristics, and biologic features from their counterparts in adults. Germline mutations of the TP53 tumor suppressor gene are associated with cancer predisposition in families with the Li-Fraumeni syndrome.Aim: To report a young girl with family a history of ADCC who presented with severe virilisation secondary to ADC...

hrp0082p3-d2-636 | Adrenals & HP Axis (1) | ESPE2014

Neonatal Hypercalcaemia Associated with Congenital Adrenal Hyperplasia

Binay Cigdem , Simsek Enver , Tekin Neslihan , Demiral Meliha

Background: Adrenal insufficiency is an important and potentially life-threatening condition, and it is also known as a rare cause of hypercalcaemia.Objective and hypotheses: Resistant hypercalcemia may be associated with hypocortisolism.Method: A 18-day-old male infant was born at 36 weeks by emergency cesarean section for fetal distress and intrauterine growth retardation. He was referred to paediatric endocrinology because of th...

hrp0082p3-d1-956 | Sex Development | ESPE2014

Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Syndrome

Simsek Enver , Binay Cigdem , Tokar Baran , Kabukcuoglu Sare , Ustun Melek

Background: Ovotesticular disorder of sexual development (DSD is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on each side.Objective and hypotheses: To discuss rare cases of ovotesticular DSD and one of the novel findings of these cases.Methods and patients: Case 1 is the first child of unrelat...

hrp0089p2-p009 | Adrenals and HPA Axis P2 | ESPE2018

Phenotype-genotype Correlations of CYP21A2 Mutations in Patients with Congenital Adrenal Hyperplasia in Turkey

Simsek Enver , Binay Cigdem , Cilingir Oguz , Demiral Meliha , Hazer Ilhan , Artan Sevilhan

Background: Mutations in the 21-hydroxylase gene (CYP21A2) accounts for 90–95% of all congenital adrenal hyperplasia (CAH) cases. There is a strong relationship between genotype and disease severity.Objective: The aim of the study was to investigate the most frequent known mutations in CYP21A2 and to describe the genotype-phenotype correlation in Turkish children with CAH due to 21-hydroxylase deficiency.Methods: Based on clin...