12203 FDXR Variants Cause Adrenal Insufficiency And Atypical Sexual Development Article Swipe
Emanuele Pignatti
,
Jesse Slone
,
M Gómez-Cano
,
Teresa Campbell
,
Jonathan T. Vu
,
Kay Sauter
,
Amit V. Pandey
,
Marina Alonso
,
Francisco Martínez‐Azorín
,
Derek Neilson
,
Nicola Longo
,
Therina du Toit
,
Clarissa D. Voegel
,
Taosheng Huang
,
Christa E Flueck
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1210/jendso/bvae163.188
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1210/jendso/bvae163.188
Disclosure: E. Pignatti: None. J. Slone: None. M. Gomez-Cano: None. T.M. Campbell: None. J. Vu: None. K. Sauter: None. A.V. Pandey: None. M. Alonso-Riaño: None. F. Martínez-Azorín: None. D. Neilson: None. N. Longo: None. T. Du Toit: None. C.D. Voegel: None. T. Huang: None. C.E. Flueck: Consulting Fee; Self; Novo Nordisk. Grant Recipient; Self; Novo Nordisk, Sandoz, Pfizer, Inc., Merck. Speaker; Self; Sandoz. Background. Biallelic variants in the mitochondrial flavoprotein ferredoxin—NADP(+)-reductase (FDXR) have been associated with a progressive neuropathic mitochondriopathy named FDXR-Related Mitochondriopathy (FRM). FRM patients often experience worsening or demise following stress, but the cause is unclear. Ambiguous genitalia at birth have now been observed in some FRM patients. As FDXR is an essential partner for several steroid enzymes, we explored the impact of FDXR variants on steroid biosynthesis. Methods. To investigate whether the abnormal stress response of many FRM patients is caused by glucocorticoid deficiency, and whether observed ambiguous genitalia is related to androgen excess, we investigated the impact of FDXR variants on adrenal steroidogenesis. Clinical, genetic, biochemical, and functional studies were performed in index patients, steroidogenic cell lines reprogrammed from patient fibroblasts, and a novel disease mouse model. Results. Two paradigmatic female FRM patients carrying novel homozygous FDXR mutation p.G437R with ambiguous genitalia at birth and sudden death in the first year of life had cortisol deficiency and androgen excess compatible with 11-hydroxylase deficiency. Steroidogenic FDXR-variant cells lines reprogrammed from three patients’ fibroblasts also displayed deficient mineralocorticoid and glucocorticoid production. Likewise, Fdxr-variant mice allelic to the severe p.R386W human variant, showed reduced progesterone and corticosterone production. Conclusions. Our comprehensive studies show that FDXR variants in FRM patients may cause compensated, but possibly life-threatening adrenocortical insufficiency in stress by affecting adrenal glucocorticoid and mineralocorticoid synthesis through direct enzyme inhibition, most likely in combination with disturbed mitochondrial redox balance. Presentation: 6/1/2024
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- Type
- article
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- Landing Page
- https://doi.org/10.1210/jendso/bvae163.188
- OA Status
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- Related Works
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- OpenAlex ID
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https://openalex.org/W4403151895Canonical identifier for this work in OpenAlex
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https://doi.org/10.1210/jendso/bvae163.188Digital Object Identifier
- Title
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12203 FDXR Variants Cause Adrenal Insufficiency And Atypical Sexual DevelopmentWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-10-01Full publication date if available
- Authors
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Emanuele Pignatti, Jesse Slone, M Gómez-Cano, Teresa Campbell, Jonathan T. Vu, Kay Sauter, Amit V. Pandey, Marina Alonso, Francisco Martínez‐Azorín, Derek Neilson, Nicola Longo, Therina du Toit, Clarissa D. Voegel, Taosheng Huang, Christa E FlueckList of authors in order
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https://doi.org/10.1210/jendso/bvae163.188Publisher landing page
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://doi.org/10.1210/jendso/bvae163.188Direct OA link when available
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Adrenal insufficiency, Medicine, Internal medicineTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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