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

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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.


Irina Y. Chernyak

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

Author for correspondence.
Email: ipsen@mail.ru
SPIN-code: 4642-3330

Russian Federation, 1, Ploshchad' Pobedy str., Krasnodar, 350007; 4, Mitrofan Sedina Street, Krasnodar, 350063

MD, PhD

Nataliya Y. Kalinchenko

Endocrinology Research Centre

Email: kalinnat@rambler.ru
ORCID iD: 0000-0002-2000-7694
SPIN-code: 6727-9653

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD, PhD

Asiet I. Tlif

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

Email: asena-86@mail.ru
SPIN-code: 1877-3242

Russian Federation, 1, Ploshchad' Pobedy str., Krasnodar, 350007; 4, Mitrofan Sedina Street, Krasnodar, 350063

MD

Elena I. Kleshenko

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

Email: asena-86@mail.ru
ORCID iD: 0000-0003-0322-4715
SPIN-code: 1090-4687

Russian Federation, 1, Ploshchad' Pobedy str., Krasnodar, 350007; 4, Mitrofan Sedina Street, Krasnodar, 350063

MD, PhD

Evgeny V. Vasiliev

Endocrinology Research Centre

Email: vas-evg@yandex.ru
ORCID iD: 0000-0003-1107-362X
SPIN-code: 5767-1569

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

PhD

Vasily M. Petrov

Endocrinology Research Centre

Email: petrov.vasiliy@gmail.com
ORCID iD: 0000-0002-0520-9132
SPIN-code: 4358-2147

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

PhD

Anatoly N. Tiulpakov

Endocrinology Research Centre

Email: genes@endocrincentr.ru
ORCID iD: 0000-0001-8500-4841
SPIN-code: 8396-1798

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD, PhD

  • 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

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Copyright (c) 2018 Chernyak I.Y., Kalinchenko N.Y., Tlif A.I., Kleshenko E.I., Vasiliev E.V., Petrov V.M., Tiulpakov A.N.

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