Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD)

Sexual Development

Volumn 1, Issue 4, 2007, Pages 230-237

  Hoppe, U ^a   Wunsch L ^a   Holterhus, P M ^b   Jocham, D ^a   Richter Unruh, A ^c   Hiort, O ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c Endokrinologikum Ruhr   (Germany)

Author keywords

17 Hydroxysteroid dehydrogenase; 46,XY Disorder of sex development; 5 Reductase; Androgen biosynthesis; Androgen receptor; Genital skin fibroblasts; Hypospadias

Indexed keywords

17BETA HYDROSTEROID DEHYDROGENASE; ANDROGEN; ANDROGEN RECEPTOR; MESSENGER RNA; OXIDOREDUCTASE; STEROID 5ALPHA REDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; BIOSYNTHESIS; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; GENITAL SYSTEM; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOSPADIAS; KARYOTYPE 46,XY; MALE SEXUAL DYSFUNCTION; PREPUCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEXUAL DEVELOPMENT; SKIN FIBROBLAST;

17-HYDROXYSTEROID DEHYDROGENASES; ANDROGENS; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; GENE EXPRESSION PROFILING; GENITALIA; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT; MALE; RECEPTORS, ANDROGEN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEX DIFFERENTIATION DISORDERS; SKIN; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 34547764773     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000104773     Document Type: Article

References (28)

1. Adamski J, Jakob FJ: A guide to 17β-hydroxysteroid dehydrogenases. Mol Cell Endocrinol 171:1-4 (2001).
2. Albers N, Ulrichs C, Gluer S, Hiort O, Sinnecker G, et al: Etiologic classification of severe hypospadias: implications for prognosis and management. J Pediatr 131:386-392 (1997).
3. Barcat J: Current concepts of treatment, in Horton CE (ed): Plastic and Reconstructive Surgery of the Genital Area, pp 249-263 (Little, Brown & Co, Boston 1973).
4. Blouin K, Richard C, Belanger C, Dupont P, Daris M, et al: Local androgen inactivation in abdominal visceral adipose tissue. J Clin Endocrinol Metab 88:5944-5950 (2003).
5. El-Alfy M, Luu-the V, Huang XF, Berger L, Labrie F, et al: Localization of type 5 17β-hydroxysteroid dehydrogenase, 3β-hydroxysteroid dehydrogenase, and androgen receptor in the human prostate by in situ hybridization and immunocytochemistry. Endocrinology 140:1481-1491 (1999).
6. English MA, Hughes SV, Kane KF, Langman MJ, Stewart PM, et al: Oestrogen inactivation in the colon: analysis of the expression and regulation of 17β-hydroxysteroid dehydrogenase isozymes in normal colon and colonic cancer. Br J Cancer 83:550-558 (2000).
7. Gunnarsson C, Ahnstrom M, Kirschner K, Olsson B, Nordenskjold B, et al: Amplification of HSD17B1 and ERBB2 in primary breast cancer. Oncogene 22:34-40 (2003).
8. Hoppe U, Holterhus PM, Wünsch L, Jocham D, Drechsler T, et al: Tissue specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor. J Mol Med 84:651-659 (2006).
9. Jaenisch R, Bird A: Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nat Genet 33 Suppl:245-254 (2003).
10. Kim K, Liu W, Cunha G, Russell D, Huang H, et al: Expression of the androgen receptor and 5α-reductase type 2 in the developing human fetal penis and urethra. Cell Tissue Res 307:145-153 (2002).
11. Koh E, Noda T, Kanaya J, Namiki M: Differential expression of 17β-hydroxysteroid dehydrogenase isozyme genes in prostate cancer and noncancer tissues. Prostate 53:154-159 (2002).
12. Labrie F, Luu-the V, Labrie C, Belanger A, Simard J, et al: Endocrine and intracrine sources of androgens in women: inhibition of breast cancer and other roles of androgens and their precursor dehydroepiandrosterone. Endocr Rev 24:152-182 (2003).
13. Luu-The V: Analysis and characteristics of multiple types of human 17β-hydroxysteroid dehydrogenase. J Steroid Biochem Mol Biol 76:143-151 (2001).
14. Luu-The V, Dufort I, Pelletier G, Labrie F: Type 5 17β- hydroxysteroid dehydrogenase: its role in the formation of androgens in women. Mol Cell Endocrinol 171:77-82 (2001).
15. Mclachlan JA: Environmental signaling: what embryos and evolution teach us about endocrine disrupting chemicals. Endocr Rev 22:319-341 (2001).
16. Mindnich R, Moller G, Adamski J: The role of 17β-hydroxysteroid dehydrogenases. Mol Cell Endocrinol 218:7-20 (2004).
17. Oduwole O, Makinen J, Isomaa V, Karttunen T, Vihko P: Sex steroid metabolism in human gastric mucosa: 17β-hydroxysteroid dehydrogenase type 2 in normal, inflamed and neoplastic gastric tissues. Anticancer Res 23:3889-3897 (2003).
18. Oliveira I, Lhullier C, Brum I, Spritzer P: The 5α-reductase type 1, but not type 2, gene is expressed in anagen hairs plucked from the vertex area of the scalp of hirsute women and normal individuals. Braz J Med Biol Res 36:1447-1454 (2003).
19. Owen G, Zelent A: Origins and evolutionary diversification of the nuclear receptor superfamily. Cell Mol Life Sci 57:809-827 (2000).
20. Pierik FH, Burdorf A, Nijman JMR, De Muinck Keizer-Schrama SMPF, Juttmann RE, et al: A high hypospadias rate in The Netherlands. Hum Reprod 17:1112-1115 (2002).
21. Provost PR, Blomquist CH, Drolet R, Flamand N, Tremblay Y: Androgen inactivation in human lung fibroblasts: variations in levels of 17β-hydroxysteroid dehydrogenase type 2 and 5α-reductase activity compatible with androgen inactivation. J Clin Endocrinol Metab 87:3883-3892 (2002).
22. Quinkler M, Bumke-Vogt C, Meyer B, Bahr V, Oelkers W, et al: The human kidney is a progesterone-metabolizing and androgen-producing organ. J Clin Endocrinol Metab 88:2803-2809 (2003).
23. Quinkler M, Sinha B, Tomlinson JW, Bujalska IJ, Stewart PM, et al: Androgen generation in adipose tissue in women with simple obesity - a site-specific role for 17β-hydroxysteroid dehydrogenase type 5. J Endocrinol 183:331-342 (2004).
24. Silver R: Endocrine abnormalities in boys with hypospadias. Adv Exp Med Biol 545:45-72 (2004).
25. Stoffel-Wagner B: Neurosteroid biosynthesis in the human brain and its clinical implications. Ann NY Acad Sci 1007:64-78 (2003).
26. Thiele S, Hoppe U, Holterhus PM, Hiort O: Isoenzyme type 1 of 5α-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5α-reductase type 2 deficient males. Eur J Endocrinol 152:875-880 (2005).
27. Thigpen A, Silver R, Guileyardo J, Casey M, Mcconnell J, et al: Tissue distribution and ontogeny of steroid 5α-reductase isozyme expression. J Clin Invest 92:903-910 (1993).
28. Vihko P, Harkonen P, Oduwole O, Torn S, Kurkela R, et al: 17β-hydroxysteroid dehydrogenases and cancers. J Steroid Biochem Mol Biol 83:119-122 (2003).