Molecular characterization of 21 hydroxylase deficiency congenital adrenal hyperplasia in Egyptian children: a pilot study

Defective steroid synthesis due to derangements of 21-hydroxylase gene [CYP21] constitutes the most frequent cause of congenital adrenal hyperplasia [CAH] and is one of the most frequent inborn errors of metabolism world wide. The molecular basis of CYP21 mutations is complicated. During meiosis gene conversion occurs and transfers deleterious point mutations from the inactive [CYP21P] to the corresponding sequence of the CYP21 gene causing either complete or partial inactivation of 21-hydroxylase activity. Allele specific polymerase chain reaction [ASPCR] was used for the detection of the 4 most common mutations in CYP21 gene: Intron 2 splice mutations [IVS2-13], 8bp deletion in exon 3 [del-8bp], I172N mutation in exon 4 and V281L mutation in exon 7, in 11 salt wasting SW-CAH Egyptian infants. In the examined 22 alleles, 2 alleles were carrying del-8bp, 3 were carrying IVS2-13 mutation, 4 with I172N, 4 with V281L. In the present study the percentage of undetectable mutations was 50%. The wide range of genetic mutations reported for CYP21 gene reconfirm the marked heterogeneity of the disorder among Egyptian and calls for more extensive molecular work

High prevalence of the Cyp21 V281L mutation in Egyptian lean women with polycystic ovaries and infertility

This study included 42 females [in the childbearing period] were who presented with irregular menstruation and infertility and had ultrasonographic findings of polycystic ovaries. Clinical evaluation was done including body mass index [BMI] calculation. Measurement of morning fasting blood levels of testosterone, 17 alpha hydroxyprogesterone [OHP], follicle stimulating hormone, luteinizing hormone, glucose and insulin was done on the 5th post-menstrual day. Insulin resistance [IR] was estimated using the homeostasis model assessment [HOMA] method. Genomic DNA was extracted from peripheral blood leukocytes and allele specific polymerase chain reaction was used to screen for the exon 7 V281L missense mutation. In conclusion, NC-21OHD due to V281L mutation has been shown to be a major underlying etiology among Egyptians presenting with PCO and infertility. This calls for the importance of screening for this adrenal disorder among this patient group in order to institute proper therapeutic strategies

Allele profiles of short tandem repeat loci in Egyptians

In this study, relative allele frequencies of 4 short tandem repeats [STR] loci in 47 unrelated subjects from Egyptian population as a primary step for forming a nationwide database was reported. The sample represented various geographical, ethnic and religious backgrounds that constituted contemporary Egyptian population. DNA was extracted from whole blood using salting out method. The allele patterns in Egyptian sample showed high levels of heterozygosity over 74% in 3 loci. The interpopulation differences were least detected with Caucasians and most with Asian and Hispanic Americans