Searchable abstracts of presentations at key conferences in endocrinology

ea0032p42 | Adrenal cortex | ECE2013

Effect of glucocorticoids treatment on anthropometric parameters and sexual maturation rating in salt wasting and simple virilizing forms of congenital adrenal hyperplasia in Pakistani boys

Akram Maleeha , Shahbaz Madiha , Riaz Misbah , Aslam Shaista , Shahid Gulben , Qayyum Mazhar , Naseem Afzaal Ahmed , Tahir Fahim , Rizvi S S R

Congenital adrenal hyperplasia (CAH), caused by lack of 21-hydroxylase, impairs cortisol secretion, which increases ACTH release that results in hyperplasia of adrenal glands and increased secretion of adrenal androgens. Elevated androgen concentration leads to increased skeletal maturation, early pubertal development and diminished pubertal growth. Treatment with glucocorticoids averts early puberty but may abruptly slow down growth. The effect of exogenous glucocorticoids on...

ea0032p44 | Adrenal cortex | ECE2013

Association of a variant of V281L of 21-hydroxylase gene CYP21A2 with simple virilizing and salt wasting types of CAH in Pakistani population

Shahbaz Madiha , Mansoor Qaiser , Akram Maleeha , Riaz Misbah , Beg Azhar , Aslam Shaista , Shahid Gulben , Qayyum Mazhar , Ahmed Naseem Afzaal , Rizvi S.S.R. , Ismail Muhammad

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by deficiency of 21-hydroxylase (CYP21), which inhibits adrenal synthesis of cortisol and aldosterone. The reduced cortisol synthesis leads to increased ACTH secretion, which results in adrenal gland hyperplasia, accumulation of steroid precursors and excessive adrenal androgen production, causing pseudoprecocious puberty. The study aimed at determining variance in two SNPs, I172N and V281L, of CYP2...