Aromatase deficiencyAromatase deficiency is a rare condition characterized by extremely low levels or complete absence of the enzyme aromatase activity in the body. It is an autosomal recessive disease resulting from various mutations of gene CPY19 (P450arom) which can lead to ambiguous genitalia and delayed puberty in females, continued linear growth into adulthood and osteoporosis in males and virilization in pregnant mothers. As of 2020, fewer than 15 cases have been identified in genetically male individuals and at least 30 cases in genetically female individuals.
Syndrome d'excès d'aromataseLe syndrome d'excès d'aromatase (AES d’après la forme anglaise Aromatase excess syndrome), qu’on appelle aussi quelquefois hyperœstrogénie familiale ou gynécomastie familiale est un syndrome génétique et endocrinien rare. Il se caractérise par une surexpression de l'aromatase, l'enzyme responsable de la biosynthèse des œstrogènes, hormones sexuelles qui se forment à partir des androgènes ; il entraîne à son tour des niveaux excessifs d’œstrogènes dans la circulation et, par conséquent, des symptômes d’hypeœstrogénie.
Estradiol benzoateEstradiol benzoate (EB), sold under the brand name Progynon-B among others, is an estrogen medication which is used in hormone therapy for menopausal symptoms and low estrogen levels in women, in hormone therapy for transgender women, and in the treatment of gynecological disorders. It is also used in the treatment of prostate cancer in men. Estradiol benzoate is used in veterinary medicine as well. When used clinically, the medication is given by injection into muscle usually two to three times per week.
