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 genetics, pathophysiology, and management of human deficiencies of P450c17.

Endocrinology and metabolism clinics of North America - 1 Mar 2001

Auchus R J

Abstract excerpt

P450c17 commands a central role in human steroidogenesis as the qualitative regulator of steroid hormone flux. Consequently, the study of P450c17 deficiencies in human beings serves to illustrate many aspects of the physiology of steroid biosynthesis and to demonstrate salient features of the gen...

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 Corticosterone
Share to Hormonal and reproductive studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pharmacogenetics and Drug Metabolism

Share to Sexual Differentiation and Disorders

Share to Steroid 17-alpha-Hydroxylase

Source

Identifiers

PMID: 11344930
DOI: 10.1016/s0889-8529(08)70021-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11344930-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The genetics, pathophysiology, and management of human deficiencies of P450c17.PMID 11344930Read ↗

P450c17 deficiency: clinical and molecular characterization of six patients.Semantic proximity Read ↗

Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.Semantic proximity Read ↗

Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic.Semantic proximity Read ↗

P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.Semantic proximity Read ↗

Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.Semantic proximity Read ↗

Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.Semantic proximity Read ↗

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

Disorders of steroid 17 alpha-hydroxylase deficiency.Semantic proximity Read ↗

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.Semantic proximity Read ↗

Seventeen alpha-hydroxylase deficiency.Semantic proximity Read ↗

17α-HYDROXYLASE DEFICIENCY IS AN UNDERDIAGNOSED DISEASE: HIGH FREQUENCY OF MISDIAGNOSES IN A LARGE COHORT OF BRAZILIAN PATIENTS.Semantic proximity Read ↗

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