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TITLE:

OCCURRENCE OF CYP17A1 GENE MUTATIONS IN THE 17Α-HYDROXYLASE IN PAKISTANIS POPULATION

AUTHORS:

Dr Rana Muhammad Qasim, Dr Zaid Sami Ullah, Dr Rana Muhammad Hamza

ABSTRACT:

Background: 18α-hydroxylase inadequacy is an uncommon passive autosomal problem caused by transformations in subfamily A part 1 of cytochrome P450 family 18. Major clinical introduction includes hypertension, hypokalemia, pseudo thermochromism in males and gonadal dysplasia in females. Several pathogenic variations have been considered in this issue, and some normal transformations have been considered racially explicit. Methods and Results: Our current research was conducted at Jinnah Hospital, Lahore from October 2107 to September 2018. In this investigation, we detailed 5 young Pakistani women from Punjab province with a lack of 17α-hydroxylase. The Cases all went to the emergency clinic for hypertension, and in addition they gave sensual infantilism. The normal age of cases remained 15 years, reaching from 13 to 18 years. They all had decreased cortisol, estradiol (E2) and testosterone in their blood in addition enlarged adrenocorticotropic hormone (ACTH), follicle stimulating hormone and luteinizing hormone (LH). They altogether looked like women; though, three of chromosomal karyotypes were 46XX, and two were 46XY. Conclusion: Altogether cases reported a change in exon 6 of CYP17A1, which is corrosive to all 329 amino acids. By abbreviating the known pathogenic changes in 17α-hydroxylase lack, authors showed the predominance of these quality changes in Han Pakistani and non-Pakistani populations. Keywords: 17α-hydroxylase absence, Congenital adrenal hyperplasia, Hypertension, CYP17A1, Gene mutation

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