Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0073oc4.2 | Oral Communications 4: Reproductive and Developmental Endocrinology | ECE2021

A molecular analysis of genes involved in disruption of hypothalamo-pituitary-gonadal axis causing delay in onset of male puberty

Akram Maleeha , Handelsman David J. , Kennerson Marina , Rauf Sania , Ahmed Shahid , Ishtiaq Osama , Ismail Muhammad , Mansoor Qaiser , Naseem Afzaal Ahmed , Qayyum Mazhar , Raza Rizvi Marc Y.

Of 563 genes involved in multiple processes of development of hypothalamo-pituitary-gonadal (HPG) axis during embryogenesis, mutations in 62 genes cause delayed puberty. We selected 6 of 37 delayed puberty patients for whole exome sequencing (WES) based on advanced age (>18 years) and severity of disease symptoms. Genomic DNA extraction was done using Qiagen kit at Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. DNA samples were taken to ANZAC Researc...

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...

ea0032p852 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

A novel mutation in gonadotropin releasing hormone receptor causing delay in puberty in a sporadic case of isolated hypogonadotropic hypogonadism

Riaz Misbah , Mansoor Qaiser , Akram Maleeha , Shahbaz Madiha , Aslam Shaista , Mirza Shakeel , ullah Irfan , Akhtar Parveen , Qayyum Mazhar , Naseem Afzaal Ahmed , Tahir Fahim , Ismail Muhammad , Rizvi S S R

The signaling of G protein-coupled receptor 54 (GPR54) is a key regulator of the secretion of gonadotropin-releasing hormone (GnRH) from the hypothalamic GnRH neurons, whereas GnRH is a crucial neurohormone regulating the secretion of FSH and LH at the time of puberty. The deficiency in the release or action of GnRH leads to hypogonadotropic hypogonadism (HH) characterized by low FSH, LH and testosterone (T) and results in absent or impaired sexual development at puberty. In b...