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

Conversion from pure 17,20-desmolase- to combined 17,20-desmolase/17 alpha-hydroxylase deficiency with age.

Acta endocrinologica - 1 Aug 1992

Zachmann M, Kempken B, Manella B, Navarro E

Abstract excerpt

A previously described phenotypically female 46,XY-individual with 17,20-desmolase deficiency was followed from adolescence to adulthood. While at age 16.9 years her 17 alpha-hydroxylating capacity was normal and steroids not hydroxylated in position 17 low, decreasing 17 alpha-hydroxylated and increasing unhydroxylated steroids were observed thereafter up to the age of 25.2 years. Simultaneously with the steroid...

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 Aging
Share to Blood Pressure

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

Share to Cytochrome P-450 Enzyme System

Share to Dexamethasone

Share to Heterozygote

Share to Hydrocortisone

Share to Phenotype

Source

Identifiers

PMID: 1529667
DOI: 10.1530/acta.0.1270097

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 · 8 closest

Conversion from pure 17,20-desmolase- to combined 17,20-desmolase/17 alpha-hydroxylase deficiency with age.PMID 1529667Read ↗

[17alpha-hydroxylase/17,20lyase deficiency].Semantic proximity Read ↗

Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.Semantic proximity Read ↗

Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.Semantic proximity Read ↗

A role for cytochrome P450 17α-hydroxylase/c17-20 lyase during shift in steroidogenesis occurring in ovarian follicles prior to oocyte maturationSemantic proximity Read ↗

Congenital adrenal hyperplasia owing to 17α-hydroxylase/17,20 lyase and p450 oxidoreductase deficiencies.Semantic proximity Read ↗

The syndrome of 17,20 lyase deficiency.Semantic proximity Read ↗

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.Semantic proximity Read ↗

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