Clinical polymorphism of congenital X-linked adrenal hypoplasia
https://doi.org/10.14341/probl200955215-18
Abstract
Congenital adrenal hypoplasia is a rare clinical variant of primary adrenal insufficiency. Two forms of this disease are known, one of which is inherited in an autosomal recessive manner (including IMAGe syndrome - a combination of adrenal hypoplasia with intrauterine growth retardation, metaphysical dysplasia and abnormal genital structure, OMIM 300290), and the other has X-linked nature of inheritance (DAX-1 gene defect). X-linked adrenal hypoplasia is relatively more common and studied in more detail.
Congenital X-linked adrenal hypoplasia is manifested by a combination of primary adrenal insufficiency and hypogonadotropic hypogonadism and is caused by defects in the DAX-1 gene (measurement-sensitive sex reversal, adrenal hypoplasia congenital, critical region on the X chromosome, gene-1).
About the Authors
E M OrlovaEndocrinology Research Centre
Russian Federation
M A Kareva
Endocrinology Research Centre
Russian Federation
References
1. Смирнов А. Н. Элементы эндокринной регуляции. - М., 2008. - С. 169-204.
2. Achermann J. C., Gu Wen-Xia, Kotlar T. J. et al. // J. Clin. Endocrinol. Metab. - 1999. - Vol. 84, N 12. - P. 4497-4500.
3. Barbaro M., Oscarson M., Schoumans J. et al. // J. Clin. Endocrinol. Metab. - 2007. - Vol. 92, N 8. - P. 3305-3313.
4. Bernard P. // Mol. Genet. Metab. - 2006. - Vol. 88, N 3. - P. 272-279.
5. Domenice S., Latronico A. C., Brito V. N. et al. // J. Clin. Endocrinol. Metab. - 2001. - Vol. 86, N 9. - P. 4068-4071.
6. Giguere V. // Endocr. Rev. - 1999. - Vol. 20, N 5. - P. 689-725.
7. Ho J., Zhang Y. H., Huang B. L., McCabe E. R. // Mol. Genet. Metab. - 2004. - Vol. 83, N 4. - P. 330-336.
8. Holter E., Kotaja N., Makela S. et al. // Mol. Endocrinol. - 2002. - Vol. 16, N 3. - P. 515-528.
9. Iyer A., Zhang Y.-H., McCabe E. R. B. // Mol. Endocrinol. - 2006. - Vol. 20, N 10. - P. 2326-2342.
10. Lalli E., Sassone-Corsi P. // Mol. Endocrinol. - 2003. - Vol. 17, N 8. - P. 1445-1453.
11. Lee Y. W., Won J. C., Ki C. S. et al. // J. Int. Med. Res. - 2008. - Vol. 36, N 2. - P. 357-361,
12. Lin Lin, Wen-Xia Gu, Ozisik G. et al. // J. Clin. Endocrinol. Metab. - 2006. - Vol. 91, N 8. - P. 3048-3054.
13. McCabe E. R. B. // Mol. Cell. Endocrinol. - 2007. - Vol. 265-266. - P. 179-182.
14. Mantovani G., Ozisik G., Achermann J. C. et al. // J. Clin. Endocrinol. Metab. - 2002. - Vol. 87, N 1. - P. 44-48.
15. Mantovani G., Menis E., Borretta G. et al. // Eur. J. Endocrinol. - 2006. - Vol. 154. - P. 685-689.
16. Merke D. P., Tajima T., Baron J., Cutler G. B. // N. Engl. J. Med. - 1999. - Vol. 340, N 16. - P. 1248-1252.
17. Muscatelli F., Storm T. M., Walker A. P. et al. // Nature. - 1994. - Vol. 372. - P. 672-676.
18. Nakamura Y., Vargas Morris C., Sasano H., Rainey W. E. // Horm. Metab. Res. - 2009. - Vol. 41, N 1. - P. 30-34.
19. Niakan K. K. // Mol. Genet. Metab. - 2005. - Vol. 86, N 1-2. - P. 70-83.
20. Orlova E. M., Kuznecova E. S., Petercova V. A., Tuilpakov A. N. // Horm. Res. - 2004. - Vol. 62, N 2. - P. 105.
21. Perry R., Kecha O., Paquette J. et al. // J. Clin. Endocrinol. Metab. - 2005. - Vol. 90. - P. 3243-3250.
22. Peter M., Viemann M., Partsch C., Sippel W. // J. Clin. Endocrinol. Metab. - 1998. - Vol. 83, N 8. - P. 2666-2674.
23. Phelan J. K., McCabe E. R. // Hum. Mutat. - 2001. - Vol. 18. - P. 472-487.
24. Reincke M., Beuschelein F., Lalli E. et al. // J. Clin. Endocrinol. Metab. - 1998. - Vol. 83, N 7. - P. 2597-2600.
25. Seminaria S., Achermann J., Genel M. et al. // J. Clin. Endocrinol. Metab. - 1999. - Vol. 84, N 12. - P. 4501-4509.
26. Shibata H., Ikeda Y., Mukai T. et al. // Mol. Genet. Metab. - 2001. - Vol. 74. - P. 206-216.
27. Shibata H., Kobayashi S., Kurihara I. et al. // Horm. Res. - 2003. - Vol. 59. - Suppl. 1. - P. 85-93.
28. Sikl H. // J. Pathol. Bacteriol. - 1948. - Vol. 60. - P. 23-32.
29. Tan T. Y., Jameson J. L., Campbell P. E. et al. // Am. J. Med. Genet. - 2006. - Vol. 140, N 16. - P. 1778-1784.
30. Verrijn S. A. A., Ozisik G., de Vroede M. A. et al. // J. Clin. Endocrinol. Metab. - 2007. - Vol. 93, N 3. - P. 755-761.
31. Weiss L., Mellinger R. C. // J. Med. Genet. - 1970. - Vol. 7. - P. 27-32.
32. Yang F., Hanaki K., Kinoshita T. et al. // Eur. J. Pediatr. - 2008.
33. Zanaria E., Muscatelli F., Bardoni B. et al. // Nature. - 1994. - Vol. 372. - P. 635-641.
34. Zhang Y. H. // Hum. Mutat. - 2004. - Vol. 24, N 3. - P. 273.
35. Zhou J., Oakley R. H., Cidlowski J. A. // Mol. Endocrinol. - 2008. - Vol. 22, N 7. - P. 1521-1534.
Review
For citations:
Orlova E.M., Kareva M.A. Clinical polymorphism of congenital X-linked adrenal hypoplasia. Problems of Endocrinology. 2009;55(2):15-18. (In Russ.) https://doi.org/10.14341/probl200955215-18
Views:
3757
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0).
Email this article 
.jpg){kind=logo}
