Open AccessThe first case of a rare form of isolated glucocorticoid insufficiency associated with to NNT gene mutation reported in the Russian Federation
Author(s) -
Irina Y. Chernyak,
Черняк Ирина Юрьевна,
Natalia Kalinchenko,
Калинченко Наталья Юрьевна,
Asiet I. Tlif,
Тлиф Асиет Исмаиловна,
E. I. Kleshenko,
Клещенко Елена Ивановна,
Evgeniy Vasilyev,
Васильев Евгений Витальевич,
В. М. Петров,
Петров Василий Михайлович,
Anatoly Tiulpakov,
Тюльпаков Анатолий Николаевич
Publication year - 2018
Publication title -
problemy èndokrinologii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.124
H-Index - 5
eISSN - 2308-1430
pISSN - 0375-9660
DOI - 10.14341/probl8582
Subject(s) - adrenal insufficiency , primary adrenal insufficiency , glucocorticoid , medicine , mutation , adrenal cortex , genetic counseling , gene mutation , endocrinology , gene , genetics , biology
Familial glucocorticoid deficiency (FGD, MIM*202200) is a rare form of primary chronic adrenal insufficiency characterized by resistance of the adrenal cortex to ACTH, decrease in secretion of glucocorticoids and adrenal androgens, and increase in plasma ACTH level. Currently, at least 7 genes whose mutations lead to the development of FGD have been described. These are MC2R, MRAP, STAR, CYP11A1, NNT, TXNRD2, and AAAS. E. Meimaridou and J. Kowalczyk were the first who described NNT gene mutation in 2012 in one patient who underwent molecular genetic examination and 9 patients with clinical presentation of familial glucocorticoid deficiency. Understanding of the exact cause of primary chronic adrenal insufficiency enables adjusting the treatment, predicting the development of possible complications and related dysfunctions of other organs, as well as the need for medical and genetic counseling of the family.