02362nam a22001817a 4500001001300000003000400013005001700017008004100034245016000075520169100235580006101926650003601987700003602023700002802059700003002087700003202117700003102149D0001J000108DOH20210227133116.0210227b           ||||| |||| 00| 0 eng d00aMutations of the steroid 21-hydroxylase gene among Filipino patients with congenital adrenal hyperplasia /cEva Maria Cutiongco-de la Paz [and four others]3 aCongenital adrenal hyperplasia (CAH), an autosomal recessive disorder, is due to deficiency of the enzymes involved in adrenal steroidogenesis. Phenotypic manifestations vary as a result of the degree of glucocorticoid or mineralocorticoid deficiency and androgen excess present. Among Filipinos, the estimated crude incidence of CAH is approximately 1 in 7,000, which is higher than what is reported in most populations. More than 90% of all cases result from a 21-hydroxylase (21-OH) (cytochrome P450c21) enzyme deficiency involving two 21-OH genes, the active gene (CYP21) and a pseudogene (CYP21P). Studies have shown that mutations result from unequal crossover during meiosis which leads to complete deletion of the gene, gene conversion events or to point mutations. To date, there are no published data on the types of mutations present among Filipinos diagnosed with congenital adrenal hyperplasia. The objective of this study is to describe the profile of Filipino patients diagnosed with CAH and to determine the disease-causing alleles in the 21-OH gene of these patients. Using a method of combined differential polymerase chain reaction and amplification created restriction site approach, direct probing for the presence of known mutations in exons 1,3,4,6,7,8 and intron 2 of the CYP21 and CYP21P genes among Filipino patients with CAH was performed. A total of 12 unrelated CAH patients were examined. A majority of these cases had a premature splicing error mutation at nucleotide 656 of intron 2. The determination of the most frequent alleles in our population can facilitate rapid screening for mutations in the 21-OH gene and lead to a definitive diagnosis of CAH.  aIn: Acta Medica Philippina, 2009 vol 43 (2) pages: 32-35 2aAdrenal Hyperplasia, Congenital1 aCutiongco-de la Paz, Eva Maria 1 aAbaya,  Eric Christian 1 aSilao, Catherine Lynn T. 1 aCapistrano-Estrada, Sylvia 1 aDavid-Padilla, Carmencita