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

[A novel CYP19A1 variant causing aromatase deficiency in a family: case report and literature review].

Zhonghua nei ke za zhi - 1 Sept 2026

Ren W Q, Sun X F, Xue Y, Lyu W S, Wang Y G, Dong B Z

Abstract excerpt

Aromatase deficiency is a rare autosomal recessive disorder of estrogen biosynthesis caused by pathogenic variants in the CYP19A1 gene, located on chromosome 15q21.2. Maternal virilization during pregnancy serves as an important diagnostic clue. Affected females may present with virilized external genitalia at birth, and later in life may develop primary amenorrhea, ovarian cysts or ovarian dysplasia, delayed...

Read the complete abstract on PubMed

Topics

Humans
Aromatase
Female
46, XX Disorders of Sex Development
Gynecomastia
Pedigree
Hirsutism

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

Virilism

Metabolism, Inborn Errors

Mutation

Exome Sequencing

Infertility, Male

Source

Identifiers

PMID: 42733266
DOI: 10.3760/cma.j.cn112138-20260210-00086

Genes

CYP19A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 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

[A novel CYP19A1 variant causing aromatase deficiency in a family: case report and literature review].PMID 42733266Read ↗

Aromatase deficiency caused by mutation of CYP19A1 gene: A case report.Semantic proximity Read ↗

A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in HumansSemantic proximity Read ↗

Aromatase Deficiency due to a Novel Mutation in CYP19A1 GeneSemantic proximity Read ↗

Human gene mutations. Gene symbol: CYP19. Disease: Aromatase deficiency.Semantic proximity Read ↗

A case of Aromatase deficiency due to a novel CYP19A1 mutationSemantic proximity Read ↗

Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization.Semantic proximity Read ↗

Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian FunctionSemantic proximity Read ↗

Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.Semantic proximity Read ↗

Molecular Basis of CYP19A1 Deficiency in a 46, XX Patient with R550W Mutation in <em>POR</em>: Expanding the PORD PhenotypeSemantic proximity Read ↗

Recognizing rare disorders: aromatase deficiency.Semantic proximity Read ↗

Bone Disease Associated with Inactivating Aromatase Mutations and its Management.Semantic proximity Read ↗

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.Semantic proximity Read ↗

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