ECE2017 Eposter Presentations: Adrenal and Neuroendocrine Tumours Paediatric endocrinology (2 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
Nadiaj Parveen 1 , Samar Minallah 1 , Muhammad Ismail 2 , Qaiser Mansoor 2 , Maleeha Akram 1 , Zubaria Iqbal 1 , Sarwat Jahan 3 , Kiran Afshan 3 , Gulbin Shahid 4 , Faheem Tahir 5 , Afzaal Ahmed Naseem 1 , Mazhar Qayyum 1 & Syed Shakeel Raza Rizvi 1
1Department of Zoology, Pir Mehr Ali Shah Arid Agriculture University Rawalpindi, Rawalpindi, Punjab, Pakistan; 2Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan; 3Department of Animal Sciences, Quaid-e-Azam University, Islamabad, Pakistan; 4The Children’s Hospital, Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan; 5Reproductive Physiology, Public Health Laboratories Division, National Institute of Health, Islamabad, Pakistan.
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 obtained from 42 CAH patients (30 boys and 12 girls) exhibiting higher 17-OH progesterone concentrations and 42 normal healthy controls. DNA was extracted, primers of exons of CYP21A2 splice sites were designed and PCR-RFLP method was employed. The PCR product of CYP21A2 digested by enzyme Fnu4HI for R356W mutation gave bands of AA (~106, 110, 229 and 37 bp). The frequency of this genotype was 100% in both groups indicating absence of R356W mutation in both groups. For Q318X, the restriction enzyme, PstI gave bands of 3 different genotypes, GG (161 and 329 bp segments) in 18 patients, GC (490, 329 and 161 bp segments) in 21 patients and CC (segment of 490 bp) in 3 patients (2 boys and 1 girl). For 8 bp deletion, PCR amplification with allele specific primers yielded a segment of ~710 bp; 8 bp deletion was not found in any patient but 3 control subjects were heterozygous for it. The frequency of homozygous wild type (NN) was 1 in patients and 0.85 in controls; the frequency of homozygous mutants (DD) was 0 in both groups, whereas the frequency of heterozygous (DN) was 0 in patients and 0.15 in controls. The frequency of allele D was 0 in patients and 0.075 in controls. The frequency of allele N was 1 and 0.925 in patients and controls respectively.
Volume 49
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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