What have we learned form monogenic forms of severe insulin resistance associated with PCOS/HAIRAN?;Qu'avons-nous appris des formes monogéniques d'insulino-résistance sévère associées au SOPK?

Annales d'Endocrinologie

Volumn 71, Issue 3, 2010, Pages 222-224

  Vigouroux, C ^a,b  

^a SORBONNE UNIVERSITÉ   (France)

^b HÔPITAL TENON   (France)

Author keywords

HAIRAN; Monogenic severe insulin resistance; Polycystic ovary syndrome

Indexed keywords

ANDROGEN; GONADOTROPIN; INSULIN RECEPTOR; LEPTIN;

ADIPOSE TISSUE; ANDROGEN SYNTHESIS; ARTICLE; DISEASE ASSOCIATION; DISEASE SEVERITY; HORMONE DEFICIENCY; HUMAN; HYPERINSULINEMIA; IN VIVO STUDY; INSULIN RESISTANCE; LIPID STORAGE; LIPODYSTROPHY; METABOLIC DISORDER; MONOGENIC DISORDER; OVARY DEVELOPMENT; OVARY POLYCYSTIC DISEASE; PATHOPHYSIOLOGY;

ADIPOSE TISSUE; FEMALE; HIRSUTISM; HUMANS; INSULIN RESISTANCE; LEPTIN; LIPODYSTROPHY; PHENOTYPE; POLYCYSTIC OVARY SYNDROME; RECEPTOR, INSULIN;

EID: 77952740972     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2010.02.017     Document Type: Article

References (33)

1. Kahn C.R., Flier J.S., Bar R.S., Archer J.A., Gorden P., Martin M.M., et al. The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. N Engl J Med 1976, 294:739-745.
2. Poretsky L., Cataldo N.A., Rosenwaks Z., Giudice L.C. The insulin-related ovarian regulatory system in health and disease. Endocr Rev 1999, 20:535-582.
3. Flier J.S., Kahn C.R., Roth J., Bar R.S. Antibodies that impair insulin receptor binding in an unusual diabetic syndrome with severe insulin resistance. Science 1975, 190:63-65.
4. Moller D.E., Flier J.S. Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance). N Engl J Med 1988, 319:1526-1529.
5. Auclair M., Vigouroux C., Desbois-Mouthon C., Deibener J., Kaminski P., Lascols O., et al. Antiinsulin receptor autoantibodies induce insulin receptors to constitutively associate with insulin receptor substrate-1 and -2 and cause severe cell resistance to both insulin and insulin-like growth factor I. J Clin Endocrinol Metab 1999, 84:3197-3206.
6. Garg A. Acquired and inherited lipodystrophies. N Engl J Med 2004, 350:1220-1234.
7. Magré J., Delepine M., Khallouf E., Gedde-Dahl T., Van Maldergem L., Sobel E., et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 2001, 28:365-370.
8. Agarwal A.K., Arioglu E., De Almeida S., Akkoc N., Taylor S.I., Bowcock A.M., et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 2002, 31:21-23.
9. Szymanski K.M., Binns D., Bartz R., Grishin N.V., Li W.P., Agarwal A.K., et al. The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci U S A 2007, 104:20890-20895.
10. Fei W., Shui G., Gaeta B., Du X., Kuerschner L., Li P., et al. Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. J Cell Biol 2008, 180:473-482.
11. Payne V.A., Grimsey N., Tuthill A., Virtue S., Gray S.L., Dalla Nora E., et al. The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. Diabetes 2008, 57:2055-2060.
12. Chen W., Yechoor V.K., Chang B.H., Li M.V., March K.L., Chan L. The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. Endocrinology 2009, 150:4552-4561.
13. Kim C.A., Delepine M., Boutet E., El Mourabit H., Le Lay S., Meier M., et al. Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. J Clin Endocrinol Metab 2008, 93:1129-1134.
14. Boutet E., El Mourabit H., Prot M., Nemani M., Khallouf E., Colard O., et al. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. Biochimie 2009, 91:796-803.
15. Rubio-Cabezas O., Puri V., Saudek I.M., Semple V., Dash R.K.S., et al. Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med 2009, 1:280-287.
16. Hayashi Y.K., Matsuda C., Ogawa M., Goto K., Tominaga K., Mitsuhashi S., et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest 2009, 119:2623-2633.
17. Flier J.S., Moller D.E., Moses A.C., O'Rahilly S., Chaiken R.L., Grigorescu F., et al. Insulin-mediated pseudoacromegaly: Clinical and biochemical characterization of a syndrome of selective insulin resistance. J Clin Endocrinol Metab 1993, 76:1533-1541.
18. Semple R.K., Sleigh A., Murgatroyd P.R., Adams C.A., Bluck L., Jackson S., et al. Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. J Clin Invest 2009, 119:315-322.
19. Goodarzi M.O., Jones M.R., Chen Y.D., Azziz R. First evidence of genetic association between AKT2 and polycystic ovary syndrome. Diabetes Care 2008, 31:2284-2287.
20. Dunaif A. Insulin resistance in women with polycystic ovary syndrome. Fertil Steril 2006, 86((Suppl) 1):S13-S14.
21. Diamanti-Kandarakis E., Papavassiliou A.G. Molecular mechanisms of insulin resistance in polycystic ovary syndrome. Trends Mol Med 2006, 12:324-332.
22. Musso C., Shawker T., Cochran E., Javor E.D., Young J., Gorden P. Clinical evidence that hyperinsulinaemia independent of gonadotropins stimulates ovarian growth. Clin Endocrinol (Oxf) 2005, 63:73-78.
23. Vambergue A., Lautier C., Valat A.S., Cortet-Rudelli C., Grigorescu F., Dewailly D. Follow-up study of two sisters with type A syndrome of severe insulin resistance gives a new insight into PCOS pathogenesis in relation to puberty and pregnancy outcome: A case report. Hum Reprod 2006, 21:1274-1278.
24. Oral E.A., Ruiz E., Andewelt A., Sebring N., Wagner A.J., Depaoli A.M., et al. Effect of leptin replacement on pituitary hormone regulation in patients with severe lipodystrophy. J Clin Endocrinol Metab 2002, 87:3110-3117.
25. Musso C., Cochran E., Javor E., Young J., Depaoli A.M., Gorden P. The long-term effect of recombinant methionyl human leptin therapy on hyperandrogenism and menstrual function in female and pituitary function in male and female hypoleptinemic lipodystrophic patients. Metabolism 2005, 54:255-263.
26. Beltrand J., Beregszaszi M., Chevenne D., Sebag G., De Kerdanet M., Huet F., et al. Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy. Pediatrics 2007, 120:e291-e296.
27. Semple R.K., Soos M.A., Luan J., Mitchell C.S., Wilson J.C., Gurnell M., et al. Elevated plasma adiponectin in humans with genetically defective insulin receptors. J Clin Endocrinol Metab 2006, 91:3219-3223.
28. Semple R.K., Cochran E.K., Soos M.A., Burling K.A., Savage D.B., Gorden P., et al. Plasma adiponectin as a marker of insulin receptor dysfunction: Clinical utility in severe insulin resistance. Diabetes Care 2008, 31:977-979.
29. Andreelli F., Hanaire-Broutin H., Laville M., Tauber J.P., Riou J.P., Thivolet C. Normal reproductive function in leptin-deficient patients with lipoatropic diabetes. J Clin Endocrinol Metab 2000, 85:715-719.
30. Johnsen S., Dolan S.E., Fitch K.V., Killilea K.M., Shifren J.L., Grinspoon S.K. Absence of polycystic ovary syndrome features in human immunodeficiency virus-infected women despite significant hyperinsulinemia and truncal adiposity. J Clin Endocrinol Metab 2005, 90:5596-5604.
31. Decaudain A., Vantyghem M.C., Guerci B., Hecart A.C., Auclair M., Reznik Y., et al. New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J Clin Endocrinol Metab 2007, 92:4835-4844.
32. Keller J., Subramanyam L., Simha V., Gustofson R., Minjarez D., Garg A. Lipodystrophy: An unusual diagnosis in a case of oligomenorrhea and hirsutism. Obstet Gynecol 2009, 114:427-431.
33. Young J., Morbois-Trabut L., Couzinet B., Lascols O., Dion E., Béréziat V., et al. Type A insulin resistance syndrome revealing a novel lamin A mutation. Diabetes 2005, 54:1873-1878.