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Congenital disorders of estrogen biosynthesis and action.
Fukami M, Ogata T. Fukami M, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101580. doi: 10.1016/j.beem.2021.101580. Epub 2021 Sep 13. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 34538723 Review.
Germline loss- and gain-of-function variants in CYP19A1, the gene encoding aromatase, lead to aromatase deficiency and aromatase excess syndrome, respectively. Germline loss-of-function variants in ESR1, the gene encoding estrogen receptor alpha, are known to …
Germline loss- and gain-of-function variants in CYP19A1, the gene encoding aromatase, lead to aromatase deficiency and aromatase e …
Aromatase inhibitors in pediatrics.
Wit JM, Hero M, Nunez SB. Wit JM, et al. Nat Rev Endocrinol. 2011 Oct 25;8(3):135-47. doi: 10.1038/nrendo.2011.161. Nat Rev Endocrinol. 2011. PMID: 22024975 Review.
The availability of the selective aromatase inhibitors letrozole and anastrozole--currently approved as adjuvant therapy for breast cancer--have stimulated off-label use of aromatase inhibitors in pediatrics for the following conditions: hyperestrogenism, such as aromatase …
The availability of the selective aromatase inhibitors letrozole and anastrozole--currently approved as adjuvant therapy for breast cancer-- …
Aromatase and gynecomastia.
Braunstein GD. Braunstein GD. Endocr Relat Cancer. 1999 Jun;6(2):315-24. doi: 10.1677/erc.0.0060315. Endocr Relat Cancer. 1999. PMID: 10731125 Review.
Klinefelter's syndrome, and neoplasms of the testes, adrenals and liver. A primary aromatase excess syndrome with exuberant gynecomastia had been found both sporadically and in a familial setting. ...
Klinefelter's syndrome, and neoplasms of the testes, adrenals and liver. A primary aromatase excess syndrome with exube …
Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.
Fukami M, Miyado M, Nagasaki K, Shozu M, Ogata T. Fukami M, et al. Pediatr Endocrinol Rev. 2014 Mar;11(3):298-305. Pediatr Endocrinol Rev. 2014. PMID: 24716396 Review.
Overexpression of CYP19A1 encoding aromatase results in a rare genetic disorder referred to as aromatase excess syndrome (AEXS). Male patients with AEXS manifest pre- or peri-pubertal onset gynecomastia, gonadotropin deficiency, and advanced bone age, while f …
Overexpression of CYP19A1 encoding aromatase results in a rare genetic disorder referred to as aromatase excess syndrome …
Regulation of aromatase expression in estrogen-responsive breast and uterine disease: from bench to treatment.
Bulun SE, Lin Z, Imir G, Amin S, Demura M, Yilmaz B, Martin R, Utsunomiya H, Thung S, Gurates B, Tamura M, Langoi D, Deb S. Bulun SE, et al. Pharmacol Rev. 2005 Sep;57(3):359-83. doi: 10.1124/pr.57.3.6. Pharmacol Rev. 2005. PMID: 16109840 Review.
Aromatase inhibitors successfully treat breast cancer and endometriosis, whereas their roles in endometrial cancer, uterine fibroids, and aromatase excess syndrome are less clear. Ovary, testis, adipose tissue, skin, hypothalamus, and placenta express aromata …
Aromatase inhibitors successfully treat breast cancer and endometriosis, whereas their roles in endometrial cancer, uterine fibroids, and …
[Familial precocious puberty -- a variant of norm or pathology?].
Ziora K, Oświecimska J, Geisler G, Broll-Waśka K, Szalecki M, Dyduch A. Ziora K, et al. Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 2006;12(1):53-8. Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 2006. PMID: 16704862 Review. Polish.
Recently another form of FPP -- familial hyperestrogenism (aromatase excess syndrome -- AES) has been described. The authors aimed to review the literature data concerning different forms of FPP emphasizing the diagnostic criteria, etiology, mode of inheritan …
Recently another form of FPP -- familial hyperestrogenism (aromatase excess syndrome -- AES) has been described. The au …