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

Aromatase deficiency in an Ontario Old Order Mennonite family.

Journal of pediatric endocrinology & metabolism : JPEM - 20 Dec 2021

Kim Sun Young, Colaiacovo Samantha, Dave Sumit, Coughlin Kevin, Langdon Kristen, Stein Robert, Saleh Maha

Abstract excerpt

OBJECTIVES: Aromatase deficiency is a rare autosomal recessive disease that results in the absence of aromatase. In females it presents with ambiguous genitalia and lack of secondary sexual characteristics during puberty. Aromatase deficiency is not attributed to any specific population, but it is more commonly seen in consanguineous parents. Herein, we report the first Old Order Mennonite family with that...

Read the complete abstract on PubMed

Topics

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

Share to 46, XX Disorders of Sex Development
Share to Aromatase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gynecomastia

Share to Homozygote

Share to Infant, Newborn

Share to Infertility, Male

Share to Metabolism, Inborn Errors

Share to Virilism

Source

Identifiers

PMID: 34348419
DOI: 10.1515/jpem-2021-0229

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Aromatase deficiency in an Ontario Old Order Mennonite family.PMID 34348419Read ↗

Recognizing rare disorders: aromatase deficiency.Semantic proximity Read ↗

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

Androgen insensitivity syndrome: ten years of our experience.Semantic proximity Read ↗

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

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

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

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

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

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

Aromatase excess syndromeas a model for genomic disorder: identification of molecular bases and phenotypic determinantsSemantic proximity Read ↗

Clinical review 78: Aromatase deficiency in women and men: would you have predicted the phenotypes?Semantic proximity Read ↗

Complete androgen insensitivity syndrome in a 13-year-old Lebanese child, reared as female, with bilateral inguinal hernia: a case report.Semantic proximity Read ↗

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