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• W2736954792 abstract "Abstract Background The CYP 11A1 gene encodes the cytochrome P450 side‐chain cleavage enzyme, which is essential for steroid formation. Recessive variants in this gene can lead to impairment of sexual differentiation caused by a complete or partial loss of steroid hormone production. The phenotypic spectrum in affected 46 XY males may vary from surgically repairable defects including cryptorchidism and hypospadias to complete feminization of external gonads, accompanied by symptoms of adrenal dysfunction. Methods Whole‐exome sequencing ( WES ) of a 12‐year‐old male proband and his parents was performed after a protracted diagnostic odyssey failed to uncover the cause of his primary adrenal insufficiency. Of note, the proband had early symptomatology and corrective surgery for hypospadias, raising suspicion for a disorder of steroidogenesis. Results WES identified compound heterozygous variants in CYP 11A1 including a novel canonical splice site variant (c.425+1G>A) and a previously reported p.E314K variant, which were consistent with a diagnosis of congenital adrenal insufficiency with partial 46 XY sex reversal. Conclusion Congenital adrenal insufficiency with 46 XY sex reversal is a rare disorder that is characterized by dysregulation of steroid hormone synthesis, leading to adrenal and gonadal dysfunction. In this report, we describe a patient with adrenal insufficiency, hypospadias, and skin hyperpigmentation who was found to have a novel c.425+1G>A variant in trans with the p.E314K variant in CYP 11A1 . We performed structural analyses to examine the effect of the p.E314K variant on protein function and show that it falls in the core of the protein may disrupt cholesterol binding in the active site." @default.
• W2736954792 created "2017-07-31" @default.
• W2736954792 creator A5036667151 @default.
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• W2736954792 date "2017-07-20" @default.
• W2736954792 modified "2023-09-30" @default.
• W2736954792 title "A novel splice site variant in<i>CYP11A1</i>in<i>trans</i>with the p.E314K variant in a male patient with congenital adrenal insufficiency" @default.
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• W2736954792 doi "https://doi.org/10.1002/mgg3.322" @default.
• W2736954792 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5702577" @default.
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