Abstract | INTRODUCTION: cP450aromatase deficiency provides clues for the understanding of the role of aromatase in prepubertal and pubertal human health and disease. Placental aromatization of androgens protects the female fetus against the virilizing action of fetal androgens. After birth, the dual effect of aromatase deficiency, excessive androgens, and insufficient estrogens is responsible for a variable clinical picture. Nineteen cases of aromatase gene ( CYP19) deficiency have been reported. PHENOTYPE: CONCLUSION: Adequate interpretation of clinical data should lead to the analysis of the CYP19 gene for diagnostic confirmation and implementation of appropriate management.
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Authors | A Belgorosky, G Guercio, C Pepe, N Saraco, M A Rivarola |
Journal | Hormone research
(Horm Res)
Vol. 72
Issue 6
Pg. 321-30
( 2009)
ISSN: 1423-0046 [Electronic] Switzerland |
PMID | 19844120
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
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Chemical References |
- Androgens
- Lipids
- Aromatase
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Topics |
- Adolescent
- Androgens
(metabolism)
- Aromatase
(deficiency, genetics)
- Bone Development
- Child
- Female
- Genitalia
(abnormalities, growth & development, metabolism)
- Humans
- Hypothalamo-Hypophyseal System
(metabolism)
- Infant
- Infant, Newborn
- Insulin Resistance
- Lipids
(blood)
- Male
- Models, Biological
- Mutation
- Phenotype
- Pregnancy
- Puberty
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