Role of the pentanucleotide (tttta)(n) polymorphism in the promoter of the CYP11a gene in the pathogenesis of hirsutism.
OBJECTIVE
To determine if the (tttta)(n) repeat polymorphism in the promoter region of CYP11a gene is associated with hirsutism and hyperandrogenism in women from Spain.


METHODS
Controlled clinical study.


METHODS
Tertiary-care institutional hospital.


METHODS
Ninety-two hirsute women and 33 healthy control women.


METHODS
Basal and adrenocorticotropin-stimulated serum samples and genomic DNA extracted and purified from whole-blood samples were obtained during the follicular phase of the menstrual cycle.


METHODS
CYP11a (tttta)(n) repeat-polymorphism genotype and serum ovarian and adrenal androgen levels.


RESULTS
None of the CYP11a (tttta)(n) polymorphic alleles was associated with hirsutism. The absence of the four-repeat-units allele (4R-- genotype), which has been reported by other authors to be associated with polycystic ovary syndrome (PCOS), was found in 22.4% of the women studied here and was equally distributed among patients and controls, independently of the presence of PCOS and/or ovarian or adrenal hyperandrogenism. No differences were observed in serum hormone concentrations in 4R-- individuals as compared with subjects with at least one four-repeat-units allele.


CONCLUSIONS
The (tttta)(n) repeat polymorphism in the promoter region of CYP11a does not appear to play any significant role in the pathogenesis of hirsutism and hyperandrogenism in women from Spain.
San Millán
J L
JL
Department of Molecular Genetics, Hospital Ramón y Cajal, Madrid, Spain.
Sancho
J
J
Calvo
R M
RM
Escobar-Morreale
H F
HF
D000328:Adult; D001483:Base Sequence; D002786:Cholesterol Side-Chain Cleavage Enzyme / Q000235:genetics*; D003350:Cortodoxone / Q000097:blood; D003366:Cosyntropin; D019314:Dehydroepiandrosterone Sulfate / Q000097:blood; D003907:Dexamethasone; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005838:Genotype; D006628:Hirsutism / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D017588:Hyperandrogenism / Q000201:enzymology / Q000235:genetics; D007986:Luteinizing Hormone / Q000097:blood / Q000378:metabolism; D008597:Menstrual Cycle; D018895:Microsatellite Repeats; D011085:Polycystic Ovary Syndrome / Q000201:enzymology / Q000235:genetics; D011110:Polymorphism, Genetic; D011374:Progesterone / Q000097:blood; D011401:Promoter Regions, Genetic; D012016:Reference Values; D012738:Sex Hormone-Binding Globulin / Q000032:analysis; D013739:Testosterone / Q000097:blood
D012738:Sex Hormone-Binding Globulin; D003366:Cosyntropin; D013739:Testosterone; D011374:Progesterone; D004958:Estradiol; D019314:Dehydroepiandrosterone Sulfate; D003907:Dexamethasone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D002786:Cholesterol Side-Chain Cleavage Enzyme; D003350:Cortodoxone