Searchable abstracts of presentations at key conferences in endocrinology

ea0022p24 | Adrenal | ECE2010

Two cousins with 17-α hydroxylase enzyme deficiency

Ozsan Muge , Akarsu Ersin , Aktaran Sebnem , Araz Mustafa

We present two cases because 17OHD is the rare cause of congenital adrenal hyperplasia (1%) and our patients are first cousins (their fathers are brothers). Genetically female patients with congenital adrenal hyperplasia due to 17-α hydroxylase enzyme deficiency (17OHD) represent with sexual infantilism, hypertension and genetically male patients represent with male pseudohermaphroditisim, hypertension at pubertal age. The cousins applied for primer amenorrhea and hyperte...

ea0016p200 | Diabetes and cardiovascular diseases | ECE2008

Relationship between nerve conduction velocity with uncoupling protein 2 promoter polymorphism -866G/A and A allele frequency in type 2 diabetic patients with diabetic peripheral neuropathy

Aktaran Sebnem , Akarsu Ersin , Akcali Aylin Hengirmen , Oguzkan Sibel

Progression of the diabetic peripheral neuropathy (DPN) demonstrated differences in the individual considered the contribution of genetic predisposition. We aim to study the relationship between the −866G/A polymorphism in the promoter region of the uncoupling protein 2 (UCP2) which enhances transcriptional activity and A allele frequency with nerve conduction velocities (NCV) and clinical factors. We compared 370 type 2 diabetic patients with healthy control. Subjective...