Sindrome.del.Ovario.Poliquistico

38 Síndrome del Ovario Poliquístico
HF. Screening for mutations in the
steroidogenic acute regulatory protein
and steroidogenic factor-1 genes, and
in CYP11A and dosage-sensitive sex
reversal-adrenal hypoplasia gene on
the X chromosome, gene-1 (DAX-1), in
hyperandrogenic hirsute women. J Clin
Endocrinol Metab. 2001;86:1746-9.
55
Gaasenbeek M, Powell BL, Sovio U, et al.
Large-scale analysis of the relationship
between CYP11A promoter variation,
polycystic ovarian syndrome, and serum
testosterone. J Clin Endocrinol Metab.
2004;89:2408-13.
56
Pugeat M, Crave JC, Tourniaire J, Forest
MG. Clinical utility of sex hormone-binding
globulin measurement. Horm Res.
1996;45:148-55.
57
Hogeveen KN, Cousin P, Pugeat M,
Dewailly D, Soudan B, Hammond GL.
Human sex hormone-binding globulin
variants associated with hyperandrogenism
and ovarian dysfunction. J Clin
Invest. 2002;109:973-81.
58
Xita N, Tsatsoulis A, Chatzikyriakidou A,
Georgiou I. Association of the (TAAAA)n
repeat polymorphism in the sex hormone-binding
globulin (SHBG) gene
with polycystic ovary syndrome and
relation to SHBG serum levels. J Clin
Endocrinol Metab. 2003;88:5976-80.
59
Lubahn DB, Joseph DR, Sullivan PM,
Willard HF, French FS, Wilson EM. Cloning
of human androgen receptor complementary
DNA and localization to the X
chromosome. Science. 1988;240:327-30.
60
Brown CJ, Goss SJ, Lubahn DB, et al.
Androgen receptor locus on the human
X chromosome: regional localization to
Xq11-12 and description of a DNA polymorphism.
Am J Hum Genet. 1989;44:
264-9.
61
Carson-Jurica MA, Schrader WT,
O’Malley BW. Steroid receptor family:
structure and functions. Endocr Rev.
1990;11:201-20.
62
Edwards A, Hammond HA, Jin L, Caskey
CT, Chakraborty R. Genetic variation
at five trimeric and tetrameric tandem
repeat loci in four human population
groups. Genomics. 1992;12:241-53.
63
Chamberlain NL, Driver ED, Miesfeld
RL. The length and location of CAG
trinucleotide repeats in the androgen
receptor N-terminal domain affect transactivation
function. Nucleic Acids Res.
1994;22:3181-6.
64
Ibáñez L, Ong KK, Mongan N, et al.
Androgen receptor gene CAG repeat
polymorphism in the development of
ovarian hyperandrogenism. J Clin Endocrinol
Metab. 2003;88:3333-8.
65
Legro RS, Shahbahrami B, Lobo RA,
Kovacs BW. Size polymorphisms of the
androgen receptor among female Hispanics
and correlation with androgenic
characteristics. Obstet Gynecol. 1994;83:
701-6.
66
Vottero A, Stratakis CA, Ghizzoni L,
Longui CA, Karl M, Chrousos GP. Androgen
receptor-mediated hypersensitivity
to androgens in women with nonhyperandrogenic
hirsutism: skewing of X-chromosome
inactivation. J Clin Endocrinol
Metab. 1999;84:1091-5.
67
Hickey T, Chandy A, Norman RJ. The
androgen receptor CAG repeat polymorphism
and X-chromosome inactivation
in Australian Caucasian women with
infertility related to polycystic ovary
syndrome. J Clin Endocrinol Metab.
2002;87:161-5.
68
Calvo RM, Asunción M, Sancho J, San
Millán JL, Escobar-Morreale HF. The
role of the CAG repeat polymorphism
in the androgen receptor gene and of
skewed X-chromosome inactivation, in
the pathogenesis of hirsutism. J Clin
Endocrinol Metab. 2000;85:1735-40.
69
Sanders EB, Aston CE, Ferrell RE, Witchel
SF. Inter-and intrafamilial variability
in premature pubarche and polycystic
ovary syndrome. Fertil Steril. 2002;78:
473-8.
70
Findlay JK. An update on the roles
of inhibin, activin, and follistatin as
local regulators of folliculogenesis. Biol
Reprod. 1993;48:15-23.