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Aromatase Deficiency

Familial gynecomastia, due to increased aromatase activity
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Aromatase Deficiency" returned 2 free, full-text review articles. First 2 results:
Aromatase deficiency in a male patient - Case report and review of the literature.
Last Updated: Dec 23, 2017

Aromatase, or CYP19A1, is a type II cytochrome CYP450 enzyme that catalyzes the conversion of C19 androgens to C18 estrogens. Its crucial role in both female and male physiology has been deduced from human and animal studies using aromatase inhibitors, genetically altered mice, and ...

Aromatase and estrogen receptor α deficiency.
Last Updated: Nov 13, 2018

Studies on the phenotypes of women and men with mutations disrupting estrogen biosynthesis and action have significantly advanced our knowledge of the physiologic roles of estrogen in humans. Aromatase deficiency results from autosomal recessive inheritance of mutations in the CYP19A1 ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Aromatase Deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Aromatase Deficiency" returned 10 free, full-text research articles. First few results:
Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency.
Last Updated: Aug 06, 2020

A diagnosis of congenital adrenal hyperplasia (CAH) in a '46, XX' newborn with ambiguous genitalia is like a 'knee jerk reaction' of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and hence untreated. Aromatase deficiency ...

A Novel Homozygous Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation
Last Updated: Feb 25, 2020

Aromatase deficiency is a rare, autosomal recessive disorder in which affected patients fail to synthesize normal estrogen. Herein, we report a 46, XX patient born with virilised external genitalia. A novel homozygous mutation in the gene, causing aromatase deficiency, was detected. ...

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10 Free Research Articles 45 Research Articles