Abstract Search

ea0049ep205 | Paediatric endocrinology | ECE2017

An analysis of R356W and Q318X mutations and 8 bp deletion in 21-hydroxylase gene CYP21A2 in causing pseudo-precocious puberty in patients with congenital adrenal hyperplasia in Pakistani children

Parveen Nadiaj , Minallah Samar , Ismail Muhammad , Mansoor Qaiser , Akram Maleeha , Iqbal Zubaria , Jahan Sarwat , Afshan Kiran , Shahid Gulbin , Tahir Faheem , Naseem Afzaal Ahmed , Qayyum Mazhar , Rizvi Syed Shakeel Raza

The first signs of puberty are visible around the age of 8 years in girls and 9 years in boys. If signs of puberty appear before the designated ages in girls and boys, puberty is viewed as precocious. In peripheral precocious puberty, androgens concentrations increase due to testicular tumours or congenital adrenal hyperplasia (CAH). Two mutations, R356W and Q318X, and one 8 bp deletion in CYP21A2 gene, causing CAH type of precocious puberty were examined. Blood samples were o...

0 shares

Endocrine Abstracts

An analysis of R356W and Q318X mutations and 8 bp deletion in 21-hydroxylase gene CYP21A2 in causing pseudo-precocious puberty in patients with congenital adrenal hyperplasia in Pakistani children

BiosciAbstracts