The first case of a rare form of isolated glucocorticoid insufficiency associated with to NNT gene mutation reported in the Russian Federation

Chernyak I.Y.; Kalinchenko N.Iu.; Tlif A.I.; Kleshenko E.I.; Vasil’eva E.V.; Petrov V.M.; Tiul'pakov A.N.

doi:https://doi.org/10.14341/probl8582

Chernyak I.Y.

Children’s Regional Clinical Hospital of Krasnodar Region, Russia;
Kuban State Medical University, Krasnodar, Russia

Kalinchenko N.Iu.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Tlif A.I.

Children’s Regional Clinical Hospital of Krasnodar Region, Russia;
Kuban State Medical University, Krasnodar, Russia

Kleshenko E.I.

Children’s Regional Clinical Hospital of Krasnodar Region, Russia;
Kuban State Medical University, Krasnodar, Russia

Vasil’eva E.V.

Endocrinology Research Centre, Moscow, Russia

Petrov V.M.

Endocrinology Research Centre, Moscow, Russia

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

The first case of a rare form of isolated glucocorticoid insufficiency associated with to NNT gene mutation reported in the Russian Federation

Authors:

Chernyak I.Y., Kalinchenko N.Iu., Tlif A.I., Kleshenko E.I., Vasil’eva E.V., Petrov V.M., Tiul'pakov A.N.

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Journal: Problems of Endocrinology. 2018;64(5): 312‑314

DOI: 10.14341/probl8582

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To cite this article:

Chernyak IY, Kalinchenko NIu, Tlif AI, Kleshenko EI, Vasil’eva EV, Petrov VM, Tiul'pakov AN. The first case of a rare form of isolated glucocorticoid insufficiency associated with to NNT gene mutation reported in the Russian Federation. Problems of Endocrinology. 2018;64(5):312‑314. (In Russ.)
https://doi.org/10.14341/probl8582

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Abstract:

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.

Keywords:

adrenal insufficiency

deficiency of glucocorticoids and adrenal androgens

homozygous NNT gene mutation

Authors:

Chernyak I.Y.

Children’s Regional Clinical Hospital of Krasnodar Region, Russia;
Kuban State Medical University, Krasnodar, Russia

Kalinchenko N.Iu.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Tlif A.I.

Children’s Regional Clinical Hospital of Krasnodar Region, Russia;
Kuban State Medical University, Krasnodar, Russia

Kleshenko E.I.

Children’s Regional Clinical Hospital of Krasnodar Region, Russia;
Kuban State Medical University, Krasnodar, Russia

Vasil’eva E.V.

Endocrinology Research Centre, Moscow, Russia

Petrov V.M.

Endocrinology Research Centre, Moscow, Russia

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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References:

Migeon CJ, Kenny EM, Kowarski A, et al. The syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six cases. Pediatr Res. 1968;2(6):501-513. doi: https://doi.org/10.1203/00006450-196811000-00008
Clark AJ, Chan LF, Chung TT, Metherell LA. The genetics of familial glucocorticoid deficiency. Best Pract Res Clin Endocrinol Metab. 2009;23(2):159-165. doi: https://doi.org/10.1016/j.beem.2008.09.006
Metherell LA, Chapple JP, Cooray S, et al. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet. 2005;37(2):166-170. doi: https://doi.org/10.1038/ng1501
Meimaridou E, Kowalczyk J, Guasti L, et al. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet. 2012;44(7):740-742. doi: https://doi.org/10.1038/ng.2299