Inter- and intrafamilial variability in premature pubarche and polycystic ovary syndrome

Fertility and Sterility

Volumn 78, Issue 3, 2002, Pages 473-478

  Sanders, Ellen B ^a   Aston, Christopher E ^a,b   Ferrell, Robert E ^a   Witchel, Selma F ^c  

^a GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^c Division of Pediatric Endocrinology   (United States)

Author keywords

Gene; Polycystic ovary syndrome; Premature pubarche

Indexed keywords

ANDROGEN;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENETIC MARKER; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HIRSUTISM; HUMAN; HYPERANDROGENISM; LINKAGE ANALYSIS; OVARY POLYCYSTIC DISEASE; PRECOCIOUS PUBERTY; PRIORITY JOURNAL;

AGE FACTORS; AMINO ACID SUBSTITUTION; FAMILY; FEMALE; GENOTYPE; HUMANS; MALE; MEDICAL HISTORY TAKING; MENARCHE; PEDIGREE; POLYCYSTIC OVARY SYNDROME; POLYMORPHISM, GENETIC; PUBERTY; STEROID 17-ALPHA-HYDROXYLASE; STEROID 21-HYDROXYLASE;

EID: 0036733770     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0015-0282(02)03252-1     Document Type: Article

References (53)

1. Prevalence of the polycystic ovary syndrome in unselected black and white women of the southeastern United States; a prospective study
2. Prevalence and predictors of risk for type 2 diabetes mellitus and impaired glucose tolerance in polycystic ovary syndrome; a prospective, controlled study in 254 affected women
3. Postpubertal outcome in girls diagnosed of premature pubarche during childhood; increased frequency of functional ovarian hyperandrogenism
4. Familial study of hirsutism
5. Familial ovarian hyperthecosis; a study of two families
6. Hyperthecosis; an inheritable form of polycystic ovarian disease
7. A twin study of polycystic ovary syndrome
8. Familial polycystic ovaries; a genetic disease?
9. Familial clustering in the polycystic ovarian syndrome
10. Heritability and the risk of developing androgen excess
11. Hereditary factors in the Stein-Leventhal syndrome
12. Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome
13. Polycystic ovaries are inherited as an autosomal dominant trait; analysis of 29 polycystic ovary syndrome and 10 control families
14. Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism
15. Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome
16. Thirty-seven candidate genes for polycystic ovary syndrome; strongest evidence for linkage is with follistatin
17. Role of the follistatin gene in women with polycystic ovary syndrome
18. Molecular scanning of the insulin receptor gene in women with polycystic ovarian syndrome
19. Molecular analysis of the gonadotropin-releasing hormone receptor in patients with polycystic ovary syndrome
20. 5′ polymorphism of the CYP17 gene is not associated with serum testosterone levels in women with polycystic ovaries
21. Identification of heterozygotic carriers of 21-hydroxylase deficiency; sensitivity of ACTH stimulation tests
22. A simple salting out procedure for extracting DNA from human nucleated cells
23. Phenotype/genotype correlations in 21-hydroxylase deficiency
24. Variants of the type II 3β-hydroxysteroid dehydrogenase gene in children with premature pubic hair and hyperandrogenic adolescent
25. Insulin receptor substrate-1 gene mutations in NIDDM; implications for the study of polygenic disease
26. Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta 3-adrenergic receptor gene
27. Glucocorticoid resistance in premature pubarche and adolescent hyperandrogenism
28. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
29. Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17
30. Arginine-cysteine polymorphism at codon 264 of the human CYP19 gene does not affect aromatase activity
31. SLINK; a general simulation program for linkage analysis
32. Computer-simulation methods in human linkage analysis
33. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance
34. 3 alpha-androstanediol glucuronide in premature and normal pubarche
35. Developmental patterns of serum 3 alpha-androstanediol glucuronide
36. Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism
37. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women
38. The presence of the 21-hydroxylase deficiency carrier status in hirsute women; phenotype-genotype correlations
39. High incidence of molecular defects of the CYP21 gene in patients with premature adrenarche
40. The role of heterozygosity for CYP21 in the polycystic ovary syndrome
41. A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling. Evidence from transfection studies
42. Impact of natural IRS-1 mutations on insulin signals; mutations of IRS-1 in the PTB domain and near SH2 protein binding sites result in impaired function at different steps of IRS-signaling
43. The Gly972→Arg amino acid polymorphism in IRS-1 impairs insulin secretion in pancreatic beta cells
44. The Gly→Arg 972 amino acid polymorphism in insulin receptor substrate-1 affects glucose metabolism in skeletal muscle cells
45. Frequency of a polymorphism in the regulatory region of the 17alpha-hydroxylase-17,20-lyase (CYP17) gene in hyperandrogenic states
46. No association between body mass index and beta (3)-adrenergic receptor variant (W64R) in children with premature pubarche and adolescent girls with hyperandrogenism
47. 17 alpha-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17
48. A polymorphism in the glucocorticoid receptor gene may be associated with an increased sensitivity to glucocorticoids in vivo
49. Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity; specificity in prostate and non-prostate cell lines
50. Androgen receptor-mediated hypersensitivity to androgens in women with nonhyperandrogenic hirsutism; skewing of X-chromosome inactivation
51. The role of CAG repeat polymorphism in the androgen receptor gene and of skewed X-chromosome inactivation, in the pathogenesis of hirsutism
52. Androgen receptor gene CAG trinucleotide repeats in anovulatory infertility and polycystic ovaries
53. Candidate gene analysis in premature pubarche and adolescent hyperandrogenism