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Aromatase excess syndrome (AES or AEXS) is a rarely diagnosed genetic and endocrine syndrome which is characterized by an overexpression of aromatase, the enzyme responsible for the biosynthesis of the estrogen sex hormones from the androgens, in turn resulting in excessive levels of circulating estrogens and, accordingly, symptoms of hyperestrogenism.
Signs of hyperestrogenism may include heightened levels of one or more of the estrogen sex hormones (usually estradiol and/or estrone), lowered levels of follicle-stimulating hormone and/or luteinizing hormone (due to suppression of the hypothalamic–pituitary–gonadal axis by estrogen), and lowered levels of androgens such as testosterone (generally only relevant to males). [1]
The efficacy of these treatments is limited once gynecomastia has occurred and are therefore most effective when used prophylactically. [66] In the United States, many insurance companies deny coverage for surgery for gynecomastia treatment or male breast reduction on the basis that it is a cosmetic procedure. [67] [68] [69] [70]
Men and women exhibit different symptoms for hypergonadism. A few of the symptoms that men can experience are increased sex drive, early balding, excessive muscle mass, and acne. Women can have symptoms such as, increased growth of facial hair, deepened voice, coarse body hair, and an irregular menstrual cycle. [5]
ALS occurs more commonly in men than in women, and women get the disease later in life compared to men. [12] This suggested the possible protective role of estrogen in ALS. By conducting treatment of 17β-estradiol to ovariectomy treated mice, scientists found significantly delay of disease progression. [13]
Aromatase deficiency is a rare condition characterized by extremely low levels or complete absence of the enzyme aromatase activity in the body. [2] It is an autosomal recessive disease resulting from various mutations of gene CYP19 (P450arom) which can lead to ambiguous genitalia and delayed puberty in females, continued linear growth into adulthood and osteoporosis in males and virilization ...
Hypergonadotropic hypogonadism (HH), also known as primary or peripheral/gonadal hypogonadism or primary gonadal failure, is a condition which is characterized by hypogonadism which is due to an impaired response of the gonads to the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and in turn a lack of sex steroid production. [1]
The underlying cause is due to the defective migration of GNRH neurons from olfactory placode to hypothalamus, leading to congenital GNRH deficiency. This leads to olfactory problems such as anosmia, optic defects like color blindness, and results in hypothalmic deficiencies associated with low levels of LH, affecting sex hormone testosterone in males or estrogen and progesterone in females.