Evidence for increased 5α-reductase activity during early childhood in daughters of women with polycystic ovary syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 101, Issue 5, 2016, Pages 2069-2075

  Torchen, Laura C ^a   Idkowiak, Jan ^b,c   Fogel, Naomi R ^a   O'Neil, Donna M ^b   Shackleton, Cedric H L ^b   Arlt, Wiebke ^b,c   Dunaif, Andrea ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c Birmingham Women s Hospital NHS Foundation Trust   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; 5ALPHA REDUCED TETRAHYDROCORTISOL; 5ALPHA TETRAHYDRO 11 DEHYDROCORTICOSTERONE; 5ALPHA TETRAHYDROCORTICOSTERONE; 5ALPHA TETRAHYDRODEOXYCORTICOSTERONE; ALPHA CORTOLONE; ANDROSTERONE; BETA CORTOLONE; CORTISONE; ETIOCHOLANOLONE; HYDROCORTISONE; STEROID 5ALPHA REDUCTASE; TETRAHYDRO 11 DEHYDROCORTICOSTERONE; TETRAHYDROCORTICOSTERONE; TETRAHYDROCORTISOL; TETRAHYDROCORTISONE; TETRAHYDRODEOXYCORTICOSTERONE; UNCLASSIFIED DRUG; CHOLESTENONE 5ALPHA REDUCTASE;

ADULT; AGE; ANDROGEN METABOLISM; ARTICLE; BODY MASS; BODY WEIGHT; CHILD; CHILDHOOD; CLINICAL ARTICLE; CONTROLLED STUDY; DAUGHTER; ENZYME ACTIVITY; FEMALE; HUMAN; MASS FRAGMENTOGRAPHY; OVARY POLYCYSTIC DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; STEROID EXCRETION; WEIGHT FOR LENGTH Z SCORE; CHILD OF IMPAIRED PARENTS; INFANT; METABOLISM; NUCLEAR FAMILY; URINE; YOUNG ADULT;

ADULT; CHILD OF IMPAIRED PARENTS; CHILD, PRESCHOOL; CHOLESTENONE 5 ALPHA-REDUCTASE; FEMALE; HUMANS; INFANT; NUCLEAR FAMILY; POLYCYSTIC OVARY SYNDROME; TETRAHYDROCORTISOL; YOUNG ADULT;

EID: 84969794976     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2015-3926     Document Type: Article

References (40)

1. Diamanti-Kandarakis E, Dunaif A. Insulin resistance and the polycystic ovary syndrome revisited: an update on mechanisms and implications. Endocr Rev. 2012;33:981-1030.
2. Legro RS, Driscoll D, Strauss JF, 3rd, Fox J, Dunaif A. Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci U S A. 1998;95:14956-14960.
3. Sir-Petermann T, Codner E, Perez V, et al. Metabolic and reproductive features before and during puberty in daughters of women with polycystic ovary syndrome. J Clin Endocrinol Metab. 2009; 94:1923-1930.
4. Torchen LC, Fogel NR, Brickman WJ, Paparodis R, Dunaif A. Persistent apparent pancreatic beta-cell defects in premenarchal PCOS relatives. J Clin Endocrinol Metab. 2014;99:3855-3862.
5. Hayes MG, Urbanek M, Ehrmann DA, et al. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun. 2015;6:7502.
6. Shi Y, Zhao H, Shi Y, et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat Genet. 2012; 44:1020-1025.
7. Vink JM, Sadrzadeh S, Lambalk CB, Boomsma DI. Heritability of polycystic ovary syndrome in a Dutch twin-family study. J Clin Endocrinol Metab. 2006;91:2100-2104.
8. Maher B. Personal genomes: the case of the missing heritability. Nature. 2008;456:18-21.
9. Dumesic DA, Abbott DH, Eisner JR, Goy RW. Prenatal exposure of female rhesus monkeys to testosterone propionate increases serum luteinizing hormone levels in adulthood. Fertil Steril. 1997;67:155-163.
10. Eisner JR, Dumesic DA, Kemnitz JW, Abbott DH. Timing of prenatal androgen excess determines differential impairment in insulin secretion and action in adult female rhesus monkeys. J Clin Endocrinol Metab. 2000;85:1206-1210.
11. Pinilla L, Trimino E, Garnelo P, et al. Changes in pituitary secretion during the early postnatal period and anovulatory syndrome induced by neonatal oestrogen or androgen in rats. J Reprod Fertil. 1993;97:13-20.
12. McGee WK, Bishop CV, Bahar A, et al. Elevated androgens during puberty in female rhesus monkeys lead to increased neuronal drive to the reproductive axis: a possible component of polycystic ovary syndrome. Hum Reprod. 2012;27:531-540.
13. Anderson H, Fogel N, Grebe SK, Singh RJ, Taylor RL, Dunaif A. Infants of women with polycystic ovary syndrome have lower cord blood androstenedione and estradiol levels. J Clin Endocrinol Metab. 2010;95:2180-2186.
14. Maliqueo M, Lara HE, Sanchez F, Echiburu B, Crisosto N, Sir-Petermann T. Placental steroidogenesis in pregnant women with polycystic ovary syndrome. Eur J Obstet Gynecol Reprod Biol. 2013;166:151-155.
15. Wilson JD, Griffin JE, Russell DW. Steroid 5 alpha-reductase 2 deficiency. Endocr Rev. 1993;14:577-593.
16. Stewart PM, Shackleton CH, Beastall GH, Edwards CR. 5 alpha-reductase activity in polycystic ovary syndrome. Lancet. 1990;335: 431-433.
17. Vassiliadi DA, Barber TM, Hughes BA, et al. Increased 5 alphareductase activity and adrenocortical drive in women with polycystic ovary syndrome. J Clin Endocrinol Metab. 2009;94:3558-3566.
18. Shackleton C, Marcos J, Malunowicz EM, et al. Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Am J Med Genet A. 2004;128A:223-231.
19. Chin D, Shackleton C, Prasad VK, et al. Increased 5alpha-reductase and normal 11beta-hydroxysteroid dehydrogenase metabolism of C19 and C21 steroids in a young population with polycystic ovarian syndrome. J Pediatr Endocrinol Metab. 2000;13:253-259.
20. Fassnacht M, Schlenz N, Schneider SB, Wudy SA, Allolio B, Arlt W. Beyond adrenal and ovarian androgen generation: Increased peripheral 5 alpha-reductase activity in women with polycystic ovary syndrome. J Clin Endocrinol Metab. 2003;88:2760-2766.
21. Jakimiuk AJ, Weitsman SR, Magoffin DA. 5alpha-reductase activity in women with polycystic ovary syndrome. J Clin Endocrinol Metab. 1999;84:2414-2418.
22. Winter JS, Hughes IA, Reyes FI, Faiman C. Pituitary-gonadal relations in infancy: 2. Patterns of serum gonadal steroid concentrations in man from birth to two years of age. J Clin Endocrinol Metab. 1976;42:679-686.
23. Tsilchorozidou T, Honour JW, Conway GS. Altered cortisol metabolism in polycystic ovary syndrome: insulin enhances 5alphareduction but not the elevated adrenal steroid production rates. J Clin Endocrinol Metab. 2003;88:5907-5913.
24. Kuczmarski RJ, Ogden CL, Guo SS, et al. CDC growth charts for the United States: methods and development. Vital Health Stat 11. 2000;2002:1-190.
25. Rogers SL, Hughes BA, Jones CA, et al. Diminished 11beta-hydroxysteroid dehydrogenase type 2 activity is associated with decreased weight and weight gain across the first year of life. J Clin Endocrinol Metab. 2014;99:E821-E831.
26. Tomlinson JW, Finney J, Hughes BA, Hughes SV, Stewart PM. Reduced glucocorticoid production rate, decreased 5alpha-reductase activity, and adipose tissue insulin sensitization after weight loss. Diabetes. 2008;57:1536-1543.
27. Walker EA, Ahmed A, Lavery GG, et al. 11beta-Hydroxysteroid dehydrogenase type 1 regulation by intracellular glucose 6-phosphate provides evidence for a novel link between glucose metabolism and hypothalamo-pituitary-adrenal axis function. J Biol Chem. 2007;282:27030-27036.
28. Gompel A, Wright F, Kuttenn F, Mauvais-Jarvis P. Contribution of plasma androstenedione to 5 alpha-androstanediol glucuronide in women with idiopathic hirsutism. J Clin Endocrinol Metab. 1986; 62:441-444.
29. Hoffmann R, Happle R. Current understanding of androgenetic alopecia. Part I: etiopathogenesis. Eur J Dermatol. 2000;10:319-327.
30. Thiboutot D, Bayne E, Thorne J, Gilliland K, Flanagan J, Shao Q, Light J, Helm K. Immunolocalization of 5alpha-reductase isozymes in acne lesions and normal skin. Arch Dermatol. 2000;136:1125-1129.
31. Skalba P, Dabkowska-Huc A, Kazimierczak W, Samojedny A, Samojedny MP, Chelmicki Z. Content of 5-alpha-reductase (type 1 and type 2) mRNA in dermal papillae from the lower abdominal region in women with hirsutism. Clin Exp Dermatol. 2006;31:564-570.
32. Auchus RJ. The physiology and biochemistry of adrenarche. Endocr Dev. 2011;20:20-27.
33. Winter JS, Faiman C. Pituitary-gonadal relations in female children and adolescents. Pediatr Res. 1973;7:948-953.
34. Ishimoto H, Jaffe RB. Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit. Endocr Rev. 2011;32:317-355.
35. Cole B, Hensinger K, Maciel GA, Chang RJ, Erickson GF. Human fetal ovary development involves the spatiotemporal expression of p450c17 protein. J Clin Endocrinol Metab. 2006;91:3654-3661.
36. Levine RJ GM, Cuttler L, Becker DJ, Nieman L, Rosenfield RL. Overcoming burdens in the regulation of clinical research in children. Proceedings of a consensus conference, in historical context. Int J Pediatr Endocrinol. 2011;201:19.
37. Dumesic DA, Abbott DH, Padmanabhan V. Polycystic ovary syndrome and its developmental origins. Rev Endocr Metab Disord. 2007;8:127-141.
38. McClamrock HD, Adashi EY. Gestational hyperandrogenism. Fertil Steril. 1992;57:257-274.
39. Rodin A, Thakkar H, Taylor N, Clayton R. Hyperandrogenism in polycystic ovary syndrome. Evidence of dysregulation of 11 betahydroxysteroid dehydrogenase. N Engl J Med. 1994;330:460-465.
40. Maliqueo M, Sir-Petermann T, Perez V, et al. Adrenal function during childhood and puberty in daughters of women with polycystic ovary syndrome. J Clin Endocrinol Metab. 2009;94:3282-3288.