Редкие причины моногенного гипопитуитаризма: обзор литературы


DOI: https://dx.doi.org/10.18565/pharmateca.2024.2.18-28

Райкина Е.Н., Панкратова М.С., Безлепкина О.Б.

Национальный медицинский исследовательский центр эндокринологии, Москва, Россия
Врожденный гипопитуитаризм – группа редких заболеваний, связанных со снижением или отсутствием секреции одного или более гормонов гипофиза. В настоящее время известно, что развитие заболеваний данной группы связано с мутациями более чем в 30 генах, ответственных за развитие гипоталамо-гипофизарной области. Вариабельность клинической картины обусловлена молекулярно-генетической основой. При этом четкую корреляцию генотипа и фенотипа не всегда возможно определить, поскольку даже у членов одной семьи с одной и той же мутацией клинические проявления могут варьироваться. В данном обзоре рассматриваются известные, а также редко встречающиеся факторы транскрипции и сигнальные молекулы, молекулярные дефекты, которые приводят к развитию изолированного и комбинированного дефицита гипофизарных гормонов у человека.

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Об авторах / Для корреспонденции


Автор для связи: Елизавета Николаевна Райкина, клинический аспирант, врач-детский эндокринолог, Национальный медицинский исследовательский центр эндокринологии, Москва, Россия; dr.raykina@mail.ru 


ORCID / eLibrary SPIN:
Е.Н. Райкина (Elizaveta N. Raykina), ORCID: https://orcid.org/0009-0005-7797-5919; eLibrary SPIN: 8987-9928
М.С. Панкратова, (Maria S. Pankratova), ORCID: https://orcid.org/0000-0003-3396-8678; eLibrary SPIN: 3770-4452
О.Б. Безлепкина, (Olga B. Bezlepkina), ORCID: https://orcid.org/0000-0001-9621-5732; eLibrary SPIN: 3884-0945


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