problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl201056334-40problendo-4761Research ArticleСтатьиArticlesКлиническая, гормональная и молекулярно-генетическая характеристика трех случаев нарушения формирования пола 46XY, обусловленного дефицитом 5α-редуктазы II типаClinical, hormonal, and molecular-genetic characteristics of three cases of 46XY disorder of sex development caused by type II 5-alpha reductase deficiencyKolodkinaA Aanna_kolodkina@mail.ruKarmanovM E-KalinchenkoN Iu-NizhnikA N-Nokel'M A-FaĭzulinA K-Tiul'pakovA N-201015062010563ТОМ 56, №3 (2010)3440Copyright © Kolodkina A.A., Karmanov M.E., Kalinchenko N.I., Nizhnik A.N., Nokel' M.A., Faĭzulin A.K., Tiul'pakov A.N., 20102010Kolodkina A.A., Karmanov M.E., Kalinchenko N.I., Nizhnik A.N., Nokel' M.A., Faĭzulin A.K., Tiul'pakov A.N.Kolodkina A.A., Karmanov M.E., Kalinchenko N.I., Nizhnik A.N., Nokel' M.A., Faĭzulin A.K., Tiul'pakov A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/4761

Дефицит 5α-редуктазы II типа (5-АРII) - одна из причин нарушения формирования пола у мальчиков. Наиболее важно провести дифференциальную диагностику с неполной формой синдрома нечувствительности к андрогенам, при которой из-за неэффективности терапии андрогенами адаптация в мужском поле крайне нежелательна, тогда как при дефиците 5-АРII адаптация в мужском поле социально оправдана, а в некоторых случаях позволяет сохранить фертильность. Представленные нами случаи демонстрируют невысокую диагностическую значимость определения соотношения Т/ДГТ (по крайней мере, при определении последнего иммуноферментным методом) и подчеркивают необходимость анализа гена SRD5A2 у всех пациентов с подозрением на дефицит 5-АРII.

Deficiency of type II 5-alpha reductase (5-ARII) is known to be responsible for abnormal sexual differentiation in boys. Of primary importance is differential diagnosis between this condition and incomplete form of androgen resistance. In the latter case, adaptation to male gender is highly undesirable because of inefficiency of androgen therapy. In contrast, such adaptation is socially justified in patients with type II 5-alpha reductase deficiency; sometimes, it permits to preserve fertility. The cases reported in this paper demonstrate low diagnostic value of the T/DHT ratio (at least as determined by the immunoenzyme assay) and emphasize the necessity of analysis of the SRD5A2 gene in all patients with suspected deficiency of type II 5-alpha reductase.

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The authors declare that there are no conflicts of interest present.