Congenital adrenal hypoplasia caused by 21-hydroxylase deficiency in patients undergoing an assisted reproductive technology programs

Zh I Glinkina; Глинкина Жанна Ивановна; L N Kuzmichev; Кузьмичев Л Н; V A Bakharev; Бахарев В А; I G Dzenis; Дзенис И Г; G D Azizova; Азизова Г Д; V G Mikayelyan; Микаелян В Г; M V Ikonnikov; Иконников М В

Congenital adrenal hypoplasia caused by 21-hydroxylase deficiency in patients undergoing an assisted reproductive technology programs

Authors: Glinkina Z.I¹, Kuzmichev LN¹, Bakharev VA¹, Dzenis IG¹, Azizova GD¹, Mikayelyan VG¹, Ikonnikov MV²
Affiliations:
1. Academician V. I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Russian Agency for Medical Technologies
2. OOO Abbott Laboratories, Moscow
Issue: No 1 (2010)
Pages: 31-33
Section: Articles
URL: https://journals.eco-vector.com/0300-9092/article/view/246429
ID: 246429

Cite item

Abstract

One hundred and eight patients included into the assisted reproductive technology (ART) program were examined. Heterozygous carriage of CYP21B gene mutation was revealed in 41 (38%) patients (26 females and 15 males). CYP21B gene deletion and duplication were 70.7 and 24.4%, respectively. HLA Class I antigens was shown to play an important role in the diagnosis of heterozygous carriage of this disease. When the markers of HLA B 14 and B 35 were available, CYP21B gene mutation was found in 68% of cases. Six cases had CYP21B gene mutation in a married couple. Awareness of the heterozygous carriage of the mutant CYP21B gene will assist one to make a necessary correction of treatment, thus enhancing the efficiency of an in vitro fertilization program and promoting the birth of healthy baby without adrenal hypoplasia within the framework of the ART program.

Keywords

adrenal hypoplasia, assisted reproductive technologies, SYP21B gene

References

Дзенис И. Г. Современные пути диагностики и профилактики наследственной недостаточности 21-гидроксилазы: Дис. ... д-ра мед. наук. - М., 1994.
Дуринян Э. Р. Клинико-патогенетическое обоснование дифференцированного подхода к лечению пациенток с синдромом поликистозных яичников: Дис. ... канд. мед. наук. - М., 1997.
Осиновская Н. С. // Молекулярно-биологические технологии в медицинской практике. - Новосибирск, 2006. - Вып. 9. - С. 84-108.
Раисова А. Т. Невынашивание беременности у женщин репродуктивного возраста: Дис. ... д-ра мед. наук. - М., 1990.

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Congenital adrenal hypoplasia caused by 21-hydroxylase deficiency in patients undergoing an assisted reproductive technology programs

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Abstract

Keywords

About the authors

Zh I Glinkina

L N Kuzmichev

V A Bakharev

I G Dzenis

G D Azizova

V G Mikayelyan

M V Ikonnikov

References

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