Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

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Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare genetic chronic primary adrenal insufficiency disorder due to partial loss-of-function CYP11A1 mutations characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis including electrolite abnormalities severe weakness recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. Ā© INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency?

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