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

P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Jan 2000

Pérez Edgar G Durán, del Rincón Lourdes González, Loza Oscar T Moreno, de Saro Monica D Martín, Palomo Antonio Segovia, Pedraza Valentín Sánchez, Alfaro Susana Kofman, García Gloria E Queipo

Abstract excerpt

OBJECTIVE: To report a case of congenital adrenal hyperplasia due to CYP17 deficiency caused by a novel CYP17A1 mutation. METHODS: We describe the clinical, biochemical, genetic, and radiologic findings of a sporadic case of congenital adrenal hyperplasia due to CYP17 deficiency in a young patient. RESULTS: An 18-year-old woman presented with hypogonadism and progressive muscle weakness and had not yet undergone...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Karyotyping

Share to Mutation

Share to Radiography

Share to Steroid 17-alpha-Hydroxylase

Source

Identifiers

PMID: 20841309
DOI: 10.4158/EP10135.CR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation.PMID 20841309Read ↗

Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.Semantic proximity Read ↗

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

A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme 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 ↗

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

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

First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic.Semantic proximity Read ↗

Seventeen alpha-hydroxylase deficiency.Semantic proximity Read ↗

Revealing a New Homozygous Variant in CYP17A1 c.908G>A (p. Gly303Asp) by Genotyping a Chinese Patient with 46, XY 17a-Hydroxylase/17,20-Lyase Deficiency and Adrenal Space-Occupying Lesion.Semantic proximity Read ↗

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

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