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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.
Symptoms of the condition in women may consist of menstrual irregularities, amenorrhea, abnormal vaginal bleeding, and enlargement of the uterus and breasts. [ 1 ] [ 2 ] It may also present as isosexual precocity in children [ 1 ] [ 2 ] and as hypogonadism , gynecomastia , feminization , impotence , and loss of libido in males. [ 3 ]
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]
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 ...
Estrogen is a critical sex hormone for women (in conjunction with progesterone). Estrogen is responsible for all different functions in a female body, but is also seen in any gender. [ 1 ] These functions are seen in body tracts such as the skeletal system, liver, brain and breasts. [ 2 ]
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]
Vaginal length in 8 women with CAIS before and after dilation therapy as first line treatment. The normal reference range (shaded) is derived from 20 control women. Duration and extent of therapy varied; the median time to completion of treatment was 5.2 months, and the median number of 30-minute dilations per week was 5. [23]
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]