Семейный изолированный дефицит глюкокортикоидов: три клинических случая и краткий обзор современной литературы
Аннотация
Список литературы
1. Clark A.J., Weber A. Adrenocorticotropin insensitivity syndromes. Endocr Rev 1998; 19: 6: 828-843.
2. Clark A.J., McLoughlin L., Grossman A. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 1993; 341: 461-462.
3. Tsigos C., Arai K., Hung W., Chrousos G.P. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 1993; 92: 2458-2461.
4. Metherell L.A., Chappie J.P., Cooray S., David A., Becker C., Ruschendorf N.D., Begeot M., Khoo B., Numberg P., Huebner A., Cheetham M.E., Clark A.J. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet 2005; 37: 2: 166-170.
5. Meimaridou E., Kowalczyk J., Guasti L., Hughes C.R., Wagner F., Frommolt P., Nürnerg P., Mann N.P., Banerjee R., Saka H.N., Chappie J.P., King P.J., Clark A.J., Metherell L.A. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet 2012; 44: 7: 740-742. doi: 10.1038/ng.2299.
6. Hughes C.R., Guasti L., Meimaridou E., Chuang C.H., Schimenti J.C., King P.J., Costigan C., Clark A.J., Metherell L.A. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. J Clin Invest 2012; 122: 3: 814-20. doi: 10.1172/JCI60224.
7. Metherell L.A., Naville D., Halaby G., Begeot M., Huebner A., Nürnberg G., Nürnberg P., Green J., Tomlinson J.W., Krone N.P., Lin L., Racine M., Bemey D.M., Achermann J.C., Arlt W., Clark A.J. Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metabol 2009; 94: 10: 3865-3871.
8. Turan S., Hughes C., Atay Z., Guran T., Haliloglu B., Clark A.J., Bereket A., Metherell L.A. An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). J Clin Endocrinol Metabol 2012; 97: 5: E771-E774.
9. Lin L., Hindmarsh P.C., Metherell L.A., Alzyoud M., Al-Ali M., Brain C.E., Clark A.J., Dattani M.T., Achermann J.C. Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol (Oxford) 2007; 66: 2: 205-210.
10. Chung T.T., Chan L.F., Metherell L.A., Clark A.J. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol (Oxford) 2010; 72: 5: 589-594.
11. Elias L.L., Huebner A., Metherell L.A., Canas A., Wame G.L., Bitti M.L., Cianfarani S., Clayton P.E., Savage M.O., Clark A.J. Tall stature in familial glucocorticoid deficiency. Clin Endocrinol (Oxford) 2000; 53: 4: 423-430.
12. Imamine H., Mizuno H., Sugiyama Y., Ohro Y., Sugiura T., Togari H. Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. Tohoku J Exp Med 2005; 205: 2: 123-131.
13. Mathew R.P., Kovacs W.J. Short stature in a patient with familial glucocorticoid deficiency. J Pediatr Endocrinol Metabol 2011; 24: 7-8: 569-571.
Для цитирования:
., ., ., ., . Семейный изолированный дефицит глюкокортикоидов: три клинических случая и краткий обзор современной литературы. Проблемы Эндокринологии. 2013;59(3):30-35. https://doi.org/10.14341/probl201359330-35
For citation:
Orlova E.M., Kareva M.A., Melikian M.A., Tiul'pakov A.N., Peterkova V.A. Familial isolated glucocorticoid deficiency: three clinical cases and a brief overview of the current literature. Problems of Endocrinology. 2013;59(3):30-35. (In Russ.) https://doi.org/10.14341/probl201359330-35