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The CYP11A1 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… Click to show full abstract
The CYP11A1 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 46XY males may vary from surgically repairable defects including cryptorchidism and hypospadias to complete feminization of external gonads, accompanied by symptoms of adrenal dysfunction.
Keywords:
cyp11a1 trans;
variant cyp11a1;
cyp11a1;
splice site;
novel splice;
site variant
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2017
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2017
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!