Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.

BMJ case reports - 3 Dec 2019

Sousa Paredes Sílvia Cristina de, Marques Olinda, Alves Marta

Abstract excerpt

Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency, a rare CAH syndrome, is characterised by failure to synthetise cortisol, adrenal androgens and gonadal steroids. The partial deficiency is much rarer, presenting with subtler symptoms. Failure to reach a proper diagnosis causes inappropriate hypertension treatment and impairs the development of secondary sexual characteristics. We report a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hyperplasia, Congenital
Share to Homozygote
Share to Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Steroid 17-alpha-Hydroxylase

Source

Open in PubMed Open full text

Identifiers

PMID: 31801776
DOI: 10.1136/bcr-2019-230778
PMCID: PMC7001706

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.PMID 31801776Read ↗

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

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

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 ↗

Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family.Semantic proximity Read ↗

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

17-Hydroxyprogesterone in children, adolescents and adults.Semantic proximity Read ↗

Congenital adrenal hyperplasia.Semantic proximity Read ↗

[Congenital adrenal hyperplasia due to lack of 17α-hydroxylase: a report of a new mutation in the gene CYP17A1].Semantic proximity Read ↗

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

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

An update of congenital adrenal hyperplasia.Semantic proximity Read ↗

Assisted Reproduction in Congenital Adrenal HyperplasiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.