hrp0082p3-d2-963 | Sex Development (1) | ESPE2014

Hypospadias in a Male Patient with 21-Hydroxylase Deficiency and Atypical Clinical Course: Presentation of Two Brothers

Guven Ayla , Hancili Suna , Arlt Wiebke

Introduction: 21-Hydroxylase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia (CAH). Clinical and laboratory findings vary depending on the enzyme activity.Case Report 1: A 2-month-old male infant referred as hypospadias. He was born at term from consanguineous parents with intrauterine growth retardation. The mother had no problem during pregnancy. The external genitalia had penoscrotal hypospadias with chordee and both teste...

hrp0082p3-d3-693 | Bone (2) | ESPE2014

The Use of Pamidronate in Pediatric Patients with Disease of Other than Osteogenesis Imperfecta: the Experience of Our Center

Guven Ayla , Helvacioglu Didem , Hancili Suna , Yildiz Metin

Background: Bisphosphonate treatment for bone fragility has expanded beyond the children with osteogenesis imperfecta (OI) to those with other causes of low bone mass. Pamidronate is effective such as Paget’s disease, hypercalcaemia of malignancy, osteolytic bone metastasis, steroid-induced osteoporosis and idiopathic osteoporosis.Objective and hypotheses: The experience with bisphosphonates treatment other than OI in children is limited although th...

hrp0082p2-d3-341 | Diabetes (2) | ESPE2014

A Rare Cause of Obesity and Type 2 Diabetes: a Novel Alms1 Mutation in Two Siblings with Alstrom Syndrome

Hancili Suna , Guven Ayla , Apaydin Suheyla , Ardagil Aylin , Perez Diana Valverde

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents we...

hrp0082p3-d2-897 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Transient Neonatal Diabetes Mellitus: New Case

Hancili Suna , Guven Ayla , Akin Ilke Mungan , Cebeci Ayse Nurcan , Edwards Sian

Introduction: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of age. It is a rare condition occurring in only one in 100 000–300 000 live births. Clinically, NDM subgroups include transient (TNDM) and permanent NDM (PNDM). TNDM is most frequently caused by abnormalities in the imprinted region of chromosome 6q24.Case Report: A 18-day-old male was referred from another clinic due to diabetic ketoaci...