Aromatase excess syndrome

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Aromatase excess syndrome
Other namesHereditary prepubertal gynecomastia
AEXS results when the function of aromatase is hyperactive. The aromatase protein (pictured) is responsible for the biosynthesis of estrogens like estradiol in the human body.
SpecialtyEndocrinology

Aromatase excess syndrome (AES or AEXS) is a rarely diagnosed

hyperfeminization.[1][2][3][4]

To date, 30 males and 8 females with AEXS among 15 and 7 families, respectively, have been described in the medical literature.[1][2]

Signs and symptoms

Observed

negative feedback inhibition on sex steroid production in sufficiently high amounts),[6] whereas luteinizing hormone (LH) levels were normal.[7]

According to a recent review, estrone levels have been elevated in 17 of 18 patients (94%), while estradiol levels have been elevated only in 13 of 27 patients (48%).[1] As such, estrone is the main estrogen elevated in the condition.[1] In more than half of patients, circulating androstenedione and testosterone levels are low to subnormal.[1] The ratio of circulating estradiol to testosterone is >10 in 75% of cases.[1] FSH levels are said to be consistently low in the condition, while LH levels are in the low to normal range.[1]

It is notable that gynecomastia has been observed in patients in whom estradiol levels are within the normal range.

17β-HSD) in breast tissue (where aromatase activity may be particularly high).[1]

The

peak height velocity (an accelerated rate of growth in regards to height),[8] and short final stature due to early epiphyseal closure. The incidence of gynecomastia appears to be 100%, with 20 of 30 male cases opting for mastectomy according to a review.[1]

In females, symptoms of AEXS include

Pubertal breast hypertrophy in association with AEXS has been described in two young girls.[9][10]

Fertility, though usually affected to one degree or another—especially in males—is not always impaired significantly enough to prevent sexual reproduction, as evidenced by vertical transmission of the condition by both sexes.[2][3][4]

Cause

The root cause of AEXS is not entirely clear, but it has been elucidated that

duplications result in relatively mild gynecomastia, while deletions, resulting in chimeric genes, cause moderate or severe gynecomastia.[11]

Diagnosis

Genetic tests are now available to identify the variants in CYP19A1 associated with AEXS. The National Institutes of Health maintains a list.[12]

Treatment

Several treatments have been found to be effective in managing AEXS, including

bilateral mastectomy, whereas females may opt for breast reduction if warranted.[2][3][4]

Medical treatment of AEXS is not absolutely necessary, but it is recommended as the condition, if left untreated, may lead to excessively large breasts (which may necessitate surgical reduction), problems with fertility, and an increased risk of endometriosis and estrogen-dependent cancers such as breast and endometrial cancers later in life.[2][13] At least one case of male breast cancer has been reported.[2]

Society and culture

Names

AEXS has also been referred to as familial hyperestrogenism, familial gynecomastia, and familial adrenal feminization.[citation needed]

Notable cases

It has been hypothesized that the

liver cirrhosis-induced hyperestrogenism.[15]

See also

References

  1. ^
    PMID 25264451
    .
  2. ^
    PMID 12843139
    .
  3. ^
    S2CID 5723607
    .
  4. ^
    ISBN 978-0-12-387025-4
    . Retrieved 24 May 2012.
  5. PMID 15483104.[permanent dead link
    ]
  6. S2CID 40392817
    .
  7. ^
    PMID 22319526
    .
  8. S2CID 24115725
    .
  9. ^ Agarwal VR, Sasano H, Takayama K, et al. Excessive levels of aromatase P450arom and its transcripts in breast adipose tissue of a girl with pubertal macromastia [Abstract P1–393]. Proceedings of the 79th Annual Meeting of the Endocrine Society; 1997 June 11–14; Minneapolis, MN, USA. Endocrine Society Press.
  10. ^ Madeira J, Silva CC, Otto AP, Trarbach EB, Nishi MY, Rocha RI, Mendonca BB, Carvalho L (April 2015). "Aromatase Excess Syndrome in a 10-Year Old Girl with Gigantomastia". Endocrine Reviews. 36 (2 Suppl).
  11. ^
    PMID 24716396
    .
  12. ^ "Aromatase excess syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-02-08.
  13. PMID 12736278
    .
  14. ^
    S2CID 24766974
    .
  15. ^
    PMID 22831939
    .

External links

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