title: 17α-Hydroylase/17,20-lyase deficiency related to P.Y27*(c.81C>A) mutation in CYP17A1 gene.
abstract: 17α-Hydroxylase/17-20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia. Genetic defects causing combined 17OHD lead to the impaired production of cortisol and sex steroids, accumulation of mineralocorticoids, and compensatory overproduction of pituitary adrenocorticotropic hormone. Consequently, individuals with this enzymatic defect present with both adrenal cortical hyperplasia and variable degrees of hypertension, hypokalemia, and sexual immaturity. The patient was aged 15 years and 3 months and she was diagnosed with 17OHD while she was being evaluated for complaints of delayed puberty. In the present case, p.Y27*(c.81C>A) mutation was revealed in the sequence analysis of the CYP17A1 gene. The same mutation was reported in a 20-year-old Turkish girl in Germany, who was investigated for delayed puberty in 2005. The previous case was reported to be normotensive and normokalemic. The presence and differences in the severity of hypertension in cases with the same mutation and total enzymatic deficiency may indicate that genes predisposed to hypertension, obesity due to genetic and environmental factors, and some other factors may play a role in the clinical presentation of hypertension.
authors.forename: Melikşah
authors.initials: M
authors.lastname: Keskin
authors.forename: Aylin Kılınç
authors.initials: AK
authors.lastname: Uğurlu
authors.forename: Şenay
authors.initials: Ş
authors.lastname: Savaş-Erdeve
authors.forename: Elif
authors.initials: E
authors.lastname: Sağsak
authors.forename: Sare Gülfem
authors.initials: SG
authors.lastname: Akyüz
authors.forename: Semra
authors.initials: S
authors.lastname: Çetinkaya
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D000328:Adult; D005260:Female; D005858:Germany; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics* / Q000378:metabolism*; D055815:Young Adult
chemical_list: C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase; D006854:Hydrocortisone