Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency

Nicotinamide nucleotide transhydrogenase (NNT) deficiency causes primary adrenal insufficiency (PAI) and possibly some extra-adrenal manifestations. A limited number of these patients were previously described. We present the clinical and genetic characteristics of three family members with a bialle...

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Bibliographic Details
Main Authors: Battelino, T. (Author), Bertok, S. (Author), Debeljak, M. (Author), Groselj, U. (Author), Hartmann, M.F (Author), Ilovar, S. (Author), Kotnik, P. (Author), Kovac, J. (Author), Krasovec, T. (Author), Sikonja, J. (Author), Stefanija, M.A (Author), Suput Omladic, J. (Author), Tesovnik, T. (Author), Trebusak Podkrajsek, K. (Author), Wudy, S.A (Author), Zerjav Tansek, M. (Author)
Format: Article
Language:English
Published: MDPI 2022
Subjects:
bone density
hearth sonography
nicotinamide nucleotide transhydrogenase
NNT deficiency
nucleotide duplication
primary adrenal insufficiency
pubertal development
testicular volume
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