The prevalence of the non-classical form of congenital adrenal hyperplasia as exemplified (by the population of the Moscow region)

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Ionova T.A.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" MZ RF, Moskva

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Kalinenkova S.G.

MONIKI im. M.F. Vladimirskogo

The prevalence of the non-classical form of congenital adrenal hyperplasia as exemplified (by the population of the Moscow region)

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Ionova T.A., Tiul'pakov A.N., Kalinenkova S.G.

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Journal: Problems of Endocrinology. 2013;59(4): 18‑22

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To cite this article:

Ionova TA, Tiul'pakov AN, Kalinenkova SG. The prevalence of the non-classical form of congenital adrenal hyperplasia as exemplified (by the population of the Moscow region). Problems of Endocrinology. 2013;59(4):18‑22. (In Russ.)

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Abstract:

The non-classical form of 21-hydroxylase deficiency (NC21OH) is one of the most common monogenic diseases inherited in the autosomal-recessive pattern. The incidence of this condition in the Russian population, unlike that of its classical variant, remains to be elucidated. Aim. The objective of the present study was to estimate the true incidence of NC21OH based on the prevalence of the two most frequent mutations associated with this disease. A total of 998 randomly selected blood spots were obtained in the course of neonatal screening of the children born within one calendar year at the territory of the Moscow region. The incidence of the disease was calculated with the use of Hardi-Weinberg equation. The minimal prevalence rate of NC21OH in the population of the Moscow region was estimated to be 1:2206. The level of 17-hydroxyprogesterone (17-OHP) calculated based on the results of the screening studies can not be used to identify the carriers of the pathology of interest whereas neonatal screening allows to diagnose no more than 90% of the cases of NC21OH.

Keywords:

non-classical form of 21-hydroxylase deficiency

neonatal screening

17-hydroxyprogesterone

Authors:

Ionova T.A.

FGBU "Éndokrinologicheskiĭ nauchnyĭ tsentr" MZ RF, Moskva

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Kalinenkova S.G.

MONIKI im. M.F. Vladimirskogo

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References:

White P.C., New M.I., Dupont B. Congenital adrenal hyperplasia. N Engl J Med 1987; 316: 24: 1519-1524.
White P.C., Speiser P.W. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrinol Rev 2000; 21: 3: 245-291.
Speiser P.W., White P.C. Congenital adrenal hyperplasia. N Engl J Med 2003; 349: 776-788.
New M.I., Wilson R.C. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralcorticoid excess. Proc Natl Acad Sci USA 1999; 96: 12790-12797.
Morel Y., Miller W.L. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 1991; 20: 1-68.
Pang S.Y., Wallace M.A., Hofman L., Thuline H.C., Dorche C., Lyon I.C., Dobbins R.H., Kling S., Fujieda K., Suwa S. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988; 81: 6: 866-874.
Allen D.B., Hoffmann G.L., Fitzpatrick P., Laessig R., Maby S., Slyper A. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr 1997; 130: 128-133.
Therrell B.L., Berenbaum S.A., Manter-Kapanke V. et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 1998; 101: 4: Pt 1: 583-590.
Balsamo A., Cacciari E., Piazzi S., Cassio A., Bozza D., Pirazzoli P., Zappulla F. Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy 1980-1995. Pediatrics 1996; 98: 362-367.
Suwa S. Nationwide survey of neonatal mass-screening for congenital adrenal hyperplasia in Japan. Screening 1994; 3: 141-151.
Cutfield W.S., Webster D. Newborn screening for congenital adrenal hyperplasia in New Zealand. J Pediatr 1995; 126: 118-121.
Glatt K., Garzon D.L., Popovic J. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Spec Pediatr Nurs 2005; 10: 3: 104-114.
Merke D.P., Bornstein S.R. Congenital adrenal hyperplasia. Lancet 2005; 365: 9477: 2125-2136.
Speiser P.W., Dupont J., Zhu D., Serrat J., Buegeleisen M., Tusie-Luna M.T., Lesser M., New M.I., White PC. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992; 90: 584-595.
Speiser P.W., Dupont B., Rubinstein P., Piazza A., Kastelan A., New M.I. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37: 4: 650-667.
Sherman S.L., Aston C.E., Morton N.E. et al. A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. Am J Hum Genet 1988; 42: 830-838.
Baumgartner-Parzer S.M., Nowotny P., Heinze G. Carrier Frequency of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in a Middle European Population. J Clin Endocrinol Metabol 2005; 90: 2: 775-778.
Fitness J., Dixit N., Webster D., Torresani T., Pergolizzi R., Speiser P.W., Day D.J. Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metabol 1999; 84: 3: 960-966.
Parajes S., Quinteiro C., Domínguez F., Loidi L. High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency PLoS ONE 2008; 3: Issue 5.
Pang S., Murphey W., Levine L.S., Spence D.A., Leon A., LaFranchi S., Surve A.S., New M.I. A pilot newborn screening for congenital adrenal hyperplasia in Alaska. J Clin Endocrinol Metabol 1982.
Lee H.H., Kuo J.M., Chao H.T., Lee Y.J., Chang J.G., Tsai C.H., Chung B.C. Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese. J Clin Endocrinol Metabol 2000; 85: 2: 597-600.
Feldman S., Billaud L., Thalabard J., Raux-Demay M.C., Mowszowicz I., Kuttenn F., Mauvais-Jarvis P. Fertility in women with late-onset adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metabol 1992; 74: 3: 635-639.
Dewailly D., Vantyghem-Haudiquet M.C., Sainsard C., Buvat J., Cappoen J.P., Ardaens K., Racadot A., Lefebvre J., Fossati P. Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency. J Clin Endocrinol Metabol 1986; 63: 418-423.

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