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 mutation in men as a rare cause of osteoporosis: a case report and review of the literature.

Clinical and experimental rheumatology - 1 Jul 2023

Stumper Nele A, Wientgen Hilke, Al-Hashimi Leith, Müller Hans-Werner, Ohrndorf Sarah, Gaber Timo, Siggelkow Heide, Hoff Paula

Abstract excerpt

OBJECTIVES: Oestrogen deficiency is a rare disease and leads inter alia to arthralgia and osteoporosis in men. The clinical relevance of aromatase to a functioning male metabolism has become evident since 1991, when cases of patients with oestrogen deficiency caused by aromatase mutation were first described. Only few cases are known so far, which will now be presented in a case report and review of the...

Read the complete abstract on PubMed

Topics

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

Share to Aromatase
Share to Estrogens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Osteoporosis

Share to Rare Diseases

Source

Identifiers

PMID: 36622109
DOI: 10.55563/clinexprheumatol/gj7xal

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 mutation in men as a rare cause of osteoporosis: a case report and review of the literature.PMID 36622109Read ↗

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

Recognizing rare disorders: aromatase deficiency.Semantic proximity Read ↗

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

Aromatase deficiency and estrogen resistance: from molecular genetics to clinic.Semantic proximity Read ↗

A novel compound heterozygous mutation of the aromatase gene in an adult man: reinforced evidence on the relationship between congenital oestrogen deficiency, adiposity and the metabolic syndromeSemantic proximity Read ↗

Human models of aromatase deficiency.Semantic proximity Read ↗

Of mice and men: the evolving phenotype of aromatase deficiency.Semantic proximity Read ↗

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

Genetic mutations resulting in loss of aromatase activity in humans and mice.Semantic proximity Read ↗

A novel mutation in the human aromatase gene: insights on the relationship among serum estradiol, longitudinal growth and bone mineral density in an adult man under estrogen replacement treatment.Semantic proximity Read ↗

Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment.Semantic proximity Read ↗

Congenital estrogen deficiency in men: a new syndrome with different phenotypes; clinical and therapeutic implications in men.Semantic proximity Read ↗

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