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

Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.

Medicine - 29 Dec 2023

Zhang Yumin, Yuan Yuexing

Abstract excerpt

RATIONALE: 17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is a recessively inherited autosomal disease caused by CYP17A1 gene mutations. It is characterized by failure to synthesize cortisol, adrenal androgens and gonadal steroids. However, it is rare in clinic combining with type 2 diabetes mellitus (T2DM). PATIENT CONCERNS: A 21-year-old woman was transferred to an endocrinology clinic because of paroxysmal...

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 Dexamethasone
Share to Hydrocortisone

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

Share to Hypokalemia

Share to Lyases

Share to Mixed Function Oxygenases

Share to Potassium

Share to Steroid 17-alpha-Hydroxylase

Source

Open in PubMed Open full text

Identifiers

PMID: 38206738
DOI: 10.1097/MD.0000000000036727
PMCID: PMC10754554

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

Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.PMID 38206738Read ↗

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 ↗

Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.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 ↗

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

[Clinical characteristics and CYP17A1 gene mutation analysis in patients with 17α-hydroxylase/17, 20-lyase deficiency and testicular tumor].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 ↗

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

[Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency].Semantic proximity Read ↗

Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient.Semantic proximity Read ↗

Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase 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 ↗

Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

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