ESPE Abstracts

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...

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...

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...

Background: Steroid 17-hydroxylase deficiency (17OHD) (OMIM 202110) is a rare form of congenital adrenal hyperplasia caused by loss-of-function mutations in the 17α-hydroxylase (CYP17A1) gene. CYP17A1 is a key enzyme in the biosynthesis of adrenal and gonadal steroid hormones facilitating both 17α-hydroxylase and 17,20-lyase activities. The CYP17A1 gene is located on chromosome 10 and has eight coding exons. Herein, the molecular basis of 17OHD in a...

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...