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

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

The Journal of clinical endocrinology and metabolism - 1 Jan 2004

Maffei Laura, Murata Yoko, Rochira Vincenzo, Tubert Gloria, Aranda Claudio, Vazquez Marcela, Clyne Colin D, Davis Susan, Simpson Evan R, Carani Cesare

Abstract excerpt

We present the fourth case of an adult man (29 yr old) affected by aromatase deficiency resulting from a novel homozygous inactivating mutation of the CYP19 (P450(arom)) gene. At first observation, continuing linear growth, eunuchoid body proportions, diffuse bone pain, and bilateral cryptorchidism were observed. The patient presented also a complex dysmetabolic syndrome characterized by insulin resistance,...

Topics

Join the communities discussing this publication.

Acanthosis Nigricans
Aromatase
Arteriosclerosis
Cryptorchidism
Fatty Liver

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Follicle Stimulating Hormone

Luteinizing Hormone

Source

Identifiers

PMID: 14715828
DOI: 10.1210/jc.2003-030313

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment.PMID 14715828Read ↗

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 ↗

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 ↗

Human models of aromatase deficiency.Semantic proximity Read ↗

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

Estrogen: consequences and implications of human mutations in synthesis and action.Semantic proximity Read ↗

Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: Effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolismSemantic proximity Read ↗

Aromatase mutation in men as a rare cause of osteoporosis: a case report and review of the literature.Semantic proximity Read ↗

Pediatric endocrinology update: an overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover: lessons from mutations in the genes for aromatase and the estrogen receptor.Semantic proximity Read ↗

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

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

Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene.Semantic proximity Read ↗

Recognizing rare disorders: aromatase deficiency.Semantic proximity Read ↗

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