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Identification of NR0B1 Gene Mutation and Analysis of Bone Damages and Drug Treatment Effect in a Big Family With X-linked Adrenal Hypoplasia Congenita: a Case Report

2021-04-01

Abstract excerpt

<h4>Background: </h4> X-linked congenital adrenocortical hypoplasia (XL-AHC) is a rare disorder, which is characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism. However, the skeletal complications caused by the disease were rarely reported, not to mention the treatment. Case presentation The patient from a big family with XL-AHC was identified carrying a homozygous insertion mutation（p.T...

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Literature Corpus work
95589ed7-f0ab-55a4-8782-0535c1f05521
DOI
10.21203/rs.3.rs-373516/v1
Open publication

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Identification of NR0B1&nbsp;Gene Mutation and Analysis of Bone Damages and Drug Treatment Effect in a Big Family With X-linked Adrenal Hypoplasia Congenita: a Case ReportDOI 10.21203/rs.3.rs-373516/v1
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