Article

Novel mutations of the CYP17A1 gene cause disorders of sex development in two-chromosome karyotype 46,XY infants and a literature review: A case report

2023-11-29

Abstract excerpt

<h4>Background: </h4> Congenital adrenal hyperplasia is a group of rare autosomal recessive diseases due to seven different enzyme mutations, and 17ɑ-hydroxylase deficiency is rare in congenital adrenal hyperplasia. The typical clinical manifestations of 17α-OHD are sexual naivety, with vague or feminine apparent definition of the external genitalia; pubescent and adult females present with no pubertal development...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e438792c-90ed-5a65-83f7-c574abe36947
DOI: 10.21203/rs.3.rs-3646997/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel mutations of the CYP17A1 gene cause disorders of sex development in two-chromosome karyotype 46,XY infants and a literature review: A case reportDOI 10.21203/rs.3.rs-3646997/v1Read

A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel MutationsSemantic proximity Read

A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.Semantic proximity Read

A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.Semantic proximity Read

A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.Semantic proximity Read

Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.Semantic proximity Read

Severe Hyperandrogenism in 46,XX Congenital Adrenal Hyperplasia: Molecular Physiopathology, Late Diagnoses, and Personalized Management.Semantic proximity Read

Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male.Semantic proximity Read

17-alpha-hydroxylase deficiency: a case report with clinical and molecular analysis.Semantic proximity Read

17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene.Semantic proximity Read

A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.Semantic proximity Read

Genotype-Phenotype Correlation and Feminizing Surgery in Danish Children with Congenital Adrenal Hyperplasia.Semantic proximity Read

Diagnosis and management of non-CAH 46,XX disorders/differences in sex developmentSemantic proximity Read