Genomic coordinate 9:124,481,236
“Here I present: “Adrenal Failure XY-Sex Reversal”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 腎上腺衰竭XY性逆轉。icd10=E25.9
INTRODUCTION.
Adrenal failure XY-sex reversal is a congenital disorder where individuals with a 46,XY chromosomal makeup are born with ambiguous or female-appearing genitalia and severe, early-onset adrenal insufficiency. It is often caused by mutations in the CYP11A1 gene, which is crucial for producing both adrenal and gonadal hormones, leading to a failure of both the adrenal glands and sex steroid synthesis.
The CYP11A1 gene provides instructions for making the enzyme that catalyzes the first step of steroid hormone synthesis, which converts cholesterol into pregnenolone. This enzyme, also known as the cholesterol side-chain cleavage enzyme (P450scc), is crucial for producing various hormones and is expressed in organs like the adrenal glands, gonads, and placenta. Mutations in the CYP11A1 gene can lead to conditions like lipoid congenital adrenal hyperplasia, causing steroid deficiencies, adrenal insufficiency, and sex reversal.
There is evidence that adrenal failure XY-sex reversal is caused by mutation in the CYP11A1 gene encoded on cytogenetic location 9q33.3 and genomic coordinate 9:124,481,236.
