Article

Pregnancy in a Chinese woman with nonclassical 11β-hydroxylase deficiency caused by novel compound heterozygous mutations: a case report, literature review and functional validation

2024-10-23

Abstract excerpt

<title>Abstract</title> <p>Background Congenital adrenocortical hyperplasia caused by 11β-hydroxylase deficiency (11β-OHD) due to <italic>CYP11B1</italic> mutations in 46,XX patients is typically characterized by hyporeninemic hypokalemia hypertension, virilization, precocious pseudopuberty, accelerated skeletal maturation and short stature. Impaired fertility has been reported in the virilizing 11β-OHD form unl...

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Literature Corpus work: 3ff73eaf-5204-5353-a3b6-5908bbdb696a
DOI: 10.21203/rs.3.rs-5267458/v1

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