Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families

The exome sequencing genetically characterized the autosomal recessive sub-type 4 of hereditary glucocorticoid deficiency in families showing the features of cortisol deficiency, including the development of hypoglycemia and adrenal crisis. This strongly supports the pathogenicity of these variants. In addition, this suggests importance of mitochondrial function in post developmental maintenance of cortisol significance in terms of cellular metabolism, carried out by NNT protein. Identifying individuals with hereditary glucocorticoid deficiency is essential to start life-saving glucocorticoid replacement.

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Publication Details

Journal
Journal of Clinical & Translational Endocrinology
Published
2026-02-01
DOI
https://doi.org/10.1016/j.jcte.2026.100433
Primary Topic
Hormonal Regulation and Hypertension
Type
article
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article

Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families

Abdullah Alzaben, Latifah Alayyar, Sultan N Alotaibi, Deemah Alwadaani et al.
Journal of Clinical & Translational Endocrinology
Hormonal Regulation and Hypertension
article

Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families

Abdullah Alzaben, Latifah Alayyar, Sultan N Alotaibi, Deemah Alwadaani, Raja Hussain Ali, Mohammed Almannai, Ahmed Mohammed Alfaidi, Muhammad Umair, Haifa Alfaraidi, Essra Aloyouni, Saleh Althenayyan, Shahad Haddad, Imran Ali Khan, Ali S Alquraishi, Manal Algattan, Majid Alfadhel, Shahad Alawaji, Ibrahim Al Alwan, Beshaier Almulhem
article en

Abstract

The exome sequencing genetically characterized the autosomal recessive sub-type 4 of hereditary glucocorticoid deficiency in families showing the features of cortisol deficiency, including the development of hypoglycemia and adrenal crisis. This strongly supports the pathogenicity of these variants. In addition, this suggests importance of mitochondrial function in post developmental maintenance of cortisol significance in terms of cellular metabolism, carried out by NNT protein. Identifying individuals with hereditary glucocorticoid deficiency is essential to start life-saving glucocorticoid replacement.

Journal of Clinical & Translational EndocrinologyVol. 43
King Saud bin Abdulaziz University for Health Sciences (SA), King Fahd Hospital of the University (SA), King Abdulaziz Medical City (SA), King Salman Center for Disability Research (SA), Armed Forces Hospital (SA), National Guard Health Affairs (SA), Imam Abdulrahman Bin Faisal University (SA)
Openalex Percentile: Top 67%
Hormonal Regulation and Hypertension
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