Description of the first case of a rare form of isolated deficiency of glucocorticoids due to mutations in the gene NNT

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Abstract

Familial glucocorticoid insufficiency of FGD, MIM * 202200 – a rare  form of the primary chronic adrenal glands deficiency (PCED), characterized by resistance of adrenal cortex to AKTG, reduction in secretion of glucocorticoids and adrenal androgens. Currently at least7 genes are described in which mutations lead to development of SGN : MC2R, MRAP, STAR, CYP11A1 [2,3] NNT, TXNRD2, AAAS. For the first time a mutation in NNT gene described by Meimaridou , E., Kowalczyk, J in 2012,  one  patient at molecular and genetic inspection without clinics,  9  patients has clinical picture SGN. Determine the exact cause of the occurrence of PHNN allows to modify the carried-out treatment, to forecast development of possible complications and the associated  violations  of the functions other  bodies, and also carrying out medical genetic counseling for the family.

About the authors

Irina Chernyak

Государственное бюджетное учреждение здравоохранения Детская краевая клиническая больница Министерства здравоохранения Краснодарского края

Author for correspondence.
Email: ipsen@mail.ru
кандидат медицинских наук, зав. Эндокринологическим отделением Russian Federation

Natalia Kalinchenko

ФГБУ "Эндокринологический научный центр" Минздрава России, Москва, Россия

Email: kalinnat@rambler.ru
кандидат медицинских наук

Asiet Tlif

Государственное бюджетное учреждение здравоохранения Детская краевая клиническая больница Министерства здравоохранения Краснодарского края

Email: asena-86@mail.ru
врач деткий эндокринолог Russian Federation

Elena Kleshenko

Email: asena-86@mail.ru
доктор медицинских наук

Vasiliy Petrov

ФГБУ "Эндокринологический научный центр" Минздрава России, Москва, Россия

Email: petrov.vasiliy@gmail.com

Evgeniy Vasiliev

ФГБУ "Эндокринологический научный центр" Минздрава России, Москва, Россия

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

Anatoly Tyulpakov

ФГБУ "Эндокринологический научный центр" Минздрава России, Москва, Россия

Email: genes@endocrincentr.ru
ORCID iD: 0000-0001-8500-4841
д.м.н.

References

  1. Migeon, C. J., Kenny, F. M., Kowarski, A. A., Snipes, C. A., Spaulding, J. S., Finkelstein, J. W., Blizzard, R. M. The syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six cases. Pediat. Res. 2: 501-513, 1968.
  2. Clark AJ, et al. The genetics of familial glucocorticoid deficiency. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):159-65.
  3. Metherell LA, et al. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 Nat Genet. 2005;37:166–70.
  4. E Meimaridou, Julia Kowalczyk, et al. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency Nature Genetics 44, 2012 740–742

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Copyright (c) 2021 Chernyak I., Kalinchenko N., Tlif A., Kleshenko E., Petrov V., Vasiliev E., Tyulpakov A.

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