Клиническая, гормональная и молекулярно-генетическая характеристики двух случаев нарушения формирования пола 46XY, обусловленного дефицитом 17β-гидроксистероид-дегидро­геназы 3-го типа

Одной из редких форм нарушения формирования пола (НФП) 46XY является дефицит фермента 17β-гидроксистероиддегидрогеназы 3-го типа (17ГСД3), при котором нарушается конверсия андростендиона в тестостерон, что приводит к недостаточной внутриутробной маскулинизации наружных гениталий. Отличительной чертой данной формы НФП является маскулинизация в пубертате за счет экстрагонадальной конверсии андростендиона в тестостерон. Представлено описание двух клинических случаев: пациентки с женским типом строения наружных гениталий при рождении и кариотипом 46XY, у которых диагноз дефицита 17ГСД3 был заподозрен в пубертатном периоде на основании прогрессирующей вирилизации. Дефицит 17ГСД3 был в обоих случаях подтвержден молекулярно-генетически - выявлены следующие мутации в гене HSD17B3: c.728-734delGATAACCp.I244fsX254/c.277+4A>T и c.277+4A>T. Представленные случаи являются первым описанием дефицита 17ГСД3 в отечественной литературе.

нарушение формирования пола, дефицит 17β-гидроксистероиддегидрогеназы 3-го типа, ген HSD17B3

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