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

The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.

European journal of endocrinology - 11 Oct 2021

Sun Min, Mueller Jonathan W, Gilligan Lorna C, Taylor Angela E, Shaheen Fozia, Noczyńska Anna, T'Sjoen Guy, Denvir Louise, Shenoy Savitha, Fulton Piers, Cheetham Timothy D, Gleeson Helena, Rahman Mushtaqur, Krone Nils P, Taylor Norman F, Shackleton Cedric H L, Arlt Wiebke, Idkowiak Jan

Abstract excerpt

CONTEXT: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised by cortisol deficiency, mineralocorticoid excess and sex steroid deficiency. OBJECTIVE: To examine the phenotypic spectrum of 17OHD by clinical and biochemical assessment and corresponding in silico and in vitro functional analysis. DESIGN: Case...

Read the complete abstract on PubMed

Topics

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

Share to Amenorrhea
Share to Corticosterone

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

Share to Failure to Thrive

Share to Gas Chromatography-Mass Spectrometry

Share to Gonadal Steroid Hormones

Share to Gynecomastia

Share to Mineralocorticoids

Share to Steroid 17-alpha-Hydroxylase

Source

Open in PubMed Open full text

Identifiers

PMID: 34524979
DOI: 10.1530/EJE-21-0152
PMCID: PMC8558848

Genes

CYP17A1

Variants

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

The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.PMID 34524979Read ↗

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

Novel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency.Semantic proximity Read ↗

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

Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency.Semantic proximity Read ↗

Identification of steroid biosynthetic defects in genotype-proven heterozygous individuals for 17alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

Rare types of congenital adrenal hyperplasia: report of five children with 11β-hydroxylase deficiency including pathogenic and novel CYP11B1 variants.Semantic proximity Read ↗

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.Semantic proximity Read ↗

A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.Semantic proximity Read ↗

17α‑hydroxylase/17,20‑lyase deficiency in congenital adrenal hyperplasia: A case report.Semantic proximity Read ↗

Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.Semantic proximity Read ↗

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

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