Abstract
The role of estrogen, progesterone, their receptors and aromatase in the development of the breast is well documented. In this study we examined the association of genetic variants of progesterone receptor (PGR) and aromatase (CYP19A1) genes with gigantomastia risk. We conducted a case-control study among 124 women: 60 with gigantomastia and 64 controls. We examined the single nucleotide polymorphisms (SNPs) for CYP19A1 (rs749292 and rs7172156) and PGR (rs1042838). Our results showed that allele G in rs749292 (CYP19A1) increased the risk of gigantomastia, but not significantly (p = 0.09). There is a correlation between rs1042838 (PGR) and waist-to-hip ratio (WHR) in women with gigantomastia-AC genotype correlates with lower WHR and CC with higher WHR. There were no correlations between the onset of gigantomastia, the age of menarche and the length of the menstrual cycle, and rs1042838, rs749292 and rs7172156. We did not find differences in the SNP of PGR (rs1042838) between women with gigantomastia and controls. However, our findings showed more frequent G allele in CYP19A1 (rs749292) in women with gigantomastia.
Highlights
Breast hypertrophy, known as gigantomastia, is a rare condition characterized by excessive breast growth
In our previous study we found that there is no primary overexpression of estrogen and progesterone receptors in women with gigantomastia and that they had, at some stage of development, higher circulating levels of androgens, which in breasts are converted to estrogens due to aromatase [12,13]
None of the gene variants correlated with breast volume (F = 0.959; p = 0.39), but we found a correlation between progesterone receptor (PGR) rs1042838 and waist-to-hip ratio (WHR)
Summary
Known as gigantomastia, is a rare condition characterized by excessive breast growth. Juvenile virginal enlargement of the breast is the most common type of gigantomastia. In our previous study we found that there is no primary overexpression of estrogen and progesterone receptors in women with gigantomastia and that they had, at some stage of development, higher circulating levels of androgens, which in breasts are converted to estrogens due to aromatase [12,13]. There are still many unverified hypotheses concerning breast hypertrophy etiology, e.g., abnormal sensitivity of estrogen (ER) or progesterone receptors (PGR) or aromatase overexpression. Verification of these hypotheses could allow for consideration of the role of different pharmacotherapies in juvenile breast hypertrophy (e.g., tamoxifen, aromatase inhibitors). It may help to establish if women with gigantomastia are at higher risk of breast cancer and other sex-hormone related cancers [14,15]
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