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Fertility recovery in patients with non-classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

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Abstract


Background. Very little research has been devoted to the studying fertility problem in nonclassical congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency. It is difficult to draw definitive conclusions regarding the need for glucocorticoid therapy in NCAH women based on limited data. Therefore, evaluating fertility in patients with NCAH and exploring the possibility of correcting its disturbances seemed to us to be a matter of importance.

Aims — to evaluate the reproductive function of patients with NCAH and explore potential treatments for this disorder.

Materials and methods. The study group included 60 patients with NCAH aged between 18 and 33 years old. NCAH was diagnosed based on early-morning serum 17-hydroxyprogesterone (17-OHP) levels above 30 nmol/l or 17-hydroxyprogesterone levels after ACTH stimulation above 26 nmol/l and/or characterized by molecular analysis of the CYP21A2 gene. Ultrasonography of the uterus and ovaries were performed in the cycle’s follicular phase. Total testosterone, dehydroepiandrosterone sulfate (DHEAS), Androstenedione, 17-OHP and Progesterone was measured.

Results. Overall, the patients complained of menstrual cycle disorders (60%), infertility — (28%), hirsutism — (63%). Prior to being diagnosed with NCAH, Thirty-four women sought care because of infertility or recurrent miscarriages. Seventeen women (50%) had miscarriages; later on, five of them developed secondary infertility. Two patients became pregnant without treatment being already diagnosed and progressed to delivery. Once the diagnosis of NCAH was made, 58 women started receiving glucocorticoid therapy, Thirty nine (67%) women became pregnant while on glucocorticoid therapy. Thus glucocorticoid therapy reduced the miscarriage rate from 50 to 10.3%; р<0.001. There was no difference in the miscarriage rate between patients who received or quit glucocorticoid therapy during pregnancy.

Conclusions. Glucocorticoid therapy is a highly efficacious method of fertility restoration in NCAH patients. Use of glucocorticoids during pregnancy planning significantly reduced the miscarriage rate. No difference in pregnancy outcome between the patients who received glucocorticoid therapy during pregnancy as opposed to those who did not indicates the advisability of treatment discontinuation once pregnancy is determined.


Elena L. Soboleva

International Center of Reproductive Medicine

Author for correspondence.
Email: doclena@inbox.ru
ORCID iD: 0000-0002-8913-3592
SPIN-code: 9585-0570

Russian Federation, 53, block 1 Komendantskiy avenue, St. Petersburg 199350

MD, PhD

Natalia S. Osinovskaya

D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: natosinovskaya@mail.ru
ORCID iD: 0000-0001-7831-9327
SPIN-code: 3190-2307

Russian Federation, 3, Mendeleevskaya line, Saint Petersburg, 199034

кандидат биологических наук, старший научный сотрудник лаборатории пренатальной диагностики наследственных заболеваний человека

Natalia N. Tkachenko

D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: liberin@mail.ru
ORCID iD: 0000-0001-6189-3488
SPIN-code: 9633-6701

Russian Federation, 3, Mendeleevskaya line, Saint Petersburg, 199034

Ph.D.

Vladislav S. Baranov

D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: baranov@vb2475.spb.edu
ORCID iD: 0000-0002-6518-1207
SPIN-code: 9196-7297

Russian Federation, 3, Mendeleevskaya line, Saint Petersburg, 199034

MD, Ph.D., professor

Marina A. Tarasova

D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology

Email: tarasova@ott.ru
ORCID iD: 0000-0001-8132-264X
SPIN-code: 8166-3356

Russian Federation, 3, Mendeleevskaya line, Saint Petersburg, 199034

MD, Ph.D.

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Copyright (c) 2018 Soboleva E.L., Osinovskaya N.S., Tkachenko N.N., Baranov V.S., Tarasova M.A.

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