Human prepubertal aromatase deficiency: physiological and pathophysiological lessons learned from this experiment of nature Authors Alicia Belgorosky Marco A. Rivarola Abstract In humans, cP450arom appears to be the product of a single gene (CYP19), located on chromosome 15q21.1. In the placenta, the active aromatization of androgens protects the female fetus and the mother from the virilizing actions of fetal androgens. Indeed, 46, XX neonates with complete aromatase deficiency are born with ambiguous external genitalia. Studies carried out on patients with complete cP450arom deficiency have also contributed considerably to the analysis of the importance that cP450arom activity has on sexual differentiation, the pattern of gonadotropin secretion, reproductive capacity, lipid metabolism and insulin sensitivity, as well as growth and skeletal maturation in both sexes. The protein coding sequence is contained within nine exons (exons 2-10), which span approximately 35 kb of DNA. The translation, initiation and termination codons are present in exons 2 and 10, respectively. Eleven welldocumented cases of complete aromatase deficiency, secondary to mutations of the CYP19 gene, have been reported. Very low estrogens and high androgens, FSH, and sometimes LH, depending on age and sex, characterize the pattern of serum hormones. During infancy, a sexual dimorphism has been observed in the role that estrogens play in the regulation of gonadotropins. These patients are at risk of developing ovarian cysts, even before puberty. Finally, the study of these patients has also been useful to illustrate the essential role of estrogens in skeletal development, epiphysial maturation, and in the pubertal growth spurt in both sexes. Downloads Text complet (Català) Published 2007-12-28 Issue 56, 2005 : Endocrinologia molecular / Jaume Reventós editor Section Articles License The intellectual property of the articles belongs to the respective authors. At the time of submitting the articles to Treballs de la Societat Catalana de Biologia, authors accept the following terms: — Authors assign to the SCB (a subsidiary of the Institut d’Estudis Catalans) the rights of reproduction, public communication (including communication through social networks) and distribution of the articles submitted for publication to Treballs de la Societat Catalana de Biologia, in any form and medium, including digital platforms. The Publications Committee reserves the right to accept or refuse submitted articles and the right to make any editorial changes it deems appropriate. If the suggested changes are accepted by authors, they should re-submit the article with such changes. — Authors answer to the SCB for the authorship and originality of submitted articles. In other words, authors assure that submitted articles do not contain fragments of works by other authors or fragments of their own previously published works; that the content of articles is original, and that the copyright of third parties is not infringed upon. Authors accept this responsibility and undertake to hold harmless the SCB for any loss or damage resulting from non-compliance with this obligation. Furthermore, they should include a statement in articles submitted to the journal regarding their responsibility for the content of the articles. — Authors are responsible for obtaining permission for the reproduction of all graphic material included in articles, and they should moreover ensure that images, videos, etc., have been created with the consent of the individuals appearing in them, and that material belonging to third parties is clearly identified and acknowledged as such within the text. Likewise, authors should provide the respective consents and authorisations to the SCB when submitting articles. — The SCB is exempt from any liability arising from the possible infringement of intellectual property rights by authors. In all cases, it undertakes to publish corrections, clarifications, retractions and apologies, if necessary. — Unless otherwise stated in the text or in the graphic material, the contents published in the journal are subject to an Attribution - NonCommercial - NoDerivs 3.0 Spain (by-nc-nd) license from Creative Commons, the full text of which may be consulted at https://creativecommons.org/licenses/by-nc-nd/3.0/es/deed.en. Therefore, the general public is authorised to reproduce, distribute and communicate articles as long as their authorship and publishing entity are acknowledged, and no commercial use is made of them nor derivative work produced from them. — The journal is not responsible for the ideas and opinions expressed by the authors of published articles.
