hrp0084p1-111 | Puberty | ESPE2015

Serum Neurokinin B Level can be Used to Differentiate Central Precocious Puberty from Premature Thelarche

Parlak Mesut , Turkkahraman Doga , Ellidag Hamit Yasar , Parlak Ayse Eda

Background: Neurokinin B and kisspeptin appear to play main roles in puberty.Aims and objectives: The aim of the present study was to investigate the diagnostic role of kisspeptin and neurokinin B in central precocious puberty (CPP) and premature thelarche (PT).Methods: The girls who presented with breast development (between 5 and 8 years) were included in the study. All cases underwent bone age (BA) assesment. Basal serum FSH, LH...

hrp0084p2-180 | Adrenals | ESPE2015

High-Dose Hook Effect in 17- Hydroxyprogesterone Assay in 21-Hydroxylase Deficiency

Parlak Mesut , Turkkahraman Doga , Parlak Ayse Eda , Ellidag Hamit Yasar

Background: False-negative results can occur an extremely high level of substrate at the assay system. This is called the ‘high-dose hook effect’.Case presentation: 14 year-old female patient was referred with short stature, amenorea and hirsutism. Height, weight and blood pressure were 140.5 cm (SDS:−3.5), 43.4 kg (SDS:−1.6) and 120/80 mmHg. She had stage 1 Tanner breast, stage 5 pubic hair and hirsutism (mFG scale: 28) with androi...

hrp0084p3-1111 | Pituitary | ESPE2015

AVP-NPII Gene Mutations and Clinical Characteristics of the Patients with Autosomal Dominant Familial Central Diabetes Insipidus

Turkkahraman Doga , Saglar Emel , Karaduman Tugce , Mergen Hatice

Background: Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin–neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.Objective and hypotheses: To determine clinical and molecular characteristics of patients with familial central DI from two different families.Method: The diagnosi...

hrp0082p2-d2-577 | Sex Development (1) | ESPE2014

A Novel Cyp19a1 Gene Mutation Identified in Three Turkish Families

Akcurin Sema , Durmaz Erdem , Kim Woo-Young , Turkkahraman Doga , Shin Joe-Gook , Lee Su-Jun

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...