What are Tubular Breasts?
Tubular breasts, also referred to as tuberous breasts or breast hypoplasia, is a condition where the breast tissue does not develop and grow (proliferate) properly during puberty, when the breasts develop in women. Tubular breasts are not extremely common, but they are not considered a rare condition either. The condition does not pose health risks, however, some women may seek treatment options for cosmetic reasons, or if they wish to breastfeed [1].
Clinical Presentation and Diagnosis of Tubular Breasts
Tubular breasts are characterised by a lack of breast tissue in both the vertical and horizontal directions, with the breasts having a gap of more than 1.5 inches between them. The areola (area surrounding the nipple) may appear constricted or collapsed, or in some patients is enlarged. Tubular breasts also often lack symmetry, with one breast noticeably larger than the other. Furthermore, instead of a round appearance, tubular breasts may appear oval, pointed, elongated or square-shaped [1].
Consequently, the diagnostic process of tubular breasts is somewhat subjective and is primarily based on physical examination of the breasts and their appearance. Imaging such as ultrasound and/or mammography may be used to examine the tissue - the only common feature of clinical presentation of tubular breasts is the lack of breast tissue which may be visible on imaging [1].
Causes of Tubular Breasts
The exact causes of tubular breasts are not clear. Some doctors believe that the condition is a result of an aberration during in-utero development, however, this has not been proven conclusively. Additionally, it is not known whether the condition is genetic - there have been some cases of hereditary tubular breasts, however, genetic drivers have not been conclusively established [1]. As the condition arises during puberty, it is likely that there is a hormonal component responsible (at least in part) for the condition, however, this is likely a compounded effect of multiple small aberrations in the hormone composition and therefore it is difficult to describe.
Treatment of Tubular Breasts
The only treatment option for tubular breasts is corrective surgery. This is often opted for for cosmetic reasons. Corrective surgery can involve:
- excision and augmentation of the excess areola,
- correction of breast shape through areola and gland alterations,
- correction of volume asymmetry through parenchyma resection or insertion of implants [2, 3].
What is PCOS?
Polycystic Ovary Syndrome (PCOS) is a common endocrine (hormonal) disorder affecting women of reproductive age. It is characterized by a combination of signs and symptoms including androgen excess, dysfunction of the ovaries and metabolic disorders such as insulin resistance, obesity, and cardiovascular diseases [4]. PCOS is very common, affecting up to 1 in 10 women of reproductive age in the US.
Clinical Presentation and Symptoms of PCOS
The signs, symptoms and clinical presentation of PCOS varies widely among women. Common symptoms include those associated with excess androgens (male hormones), including:
- menstrual irregularities,
- excessive hair growth (hirsutism),
- acne,
- infertility.
Additionally, PCOS is also known to change the body composition of women, with an increase in muscle mass and therefore strength.
PCOS can also present with metabolic complications, including insulin resistance which can lead to diabetes, and obesity. In some cases, PCOS can also lead to serious complications such as coronary heart disease and other cardiovascular disorders, or cancer [5, 6].
Diagnostic Process for PCOS
PCOS has three main diagnostic criteria, of which at least two have to be met for a diagnosis to be conclusively made. These are:
- clinical and/or biochemical signs of hyperandrogenism (excess male hormones),
- oligo-ovulation (ovulation does not occur regularly, and the menstrual cycle is lenghtened) or anovulation (complete loss of ovulation),
- polycystic ovaries on ultrasound (a large number of cysts surrounding the ovaries)
It is important to note that a differential diagnosis for other conditions should be performed in addition to observing the signs above, in order to exclude the possibility of other diseases [4].
Causes of PCOS
The exact causes and development process of PCOS are not fully understood - PCOS is a complex disorder influenced by numerous genetic and environmental factors [5].
Genetically, PCOS has a heritable component - up to 70% of cases are inherited. Several genes have been studied in relation to PCOS, including:
- genes related to adrenal and ovarian steroidogenesis (these regulate biosynthesis of steroid hormones, examples include StAR, NR5A1 (SF-1), and FOXL2),
- genes related to hormonal response to gonadotropins (these play a role in development and function of the reproductive system),
- genes responding to androgen stimulation,
- genes responding to insulin.
Large genome-wide association studies have identified risk loci and regions on several candidate genes, however, further studies concluded that these explain less than 10% of the heritability of PCOS [5, 6, 4]. Therefore, more research is needed into the genetics of PCOS.
In addition to the genetic factors, lifestyle factors can play a role in the development (and also management) of PCOS. PCOS is frequently associated with abdominal adiposity (presence of fat) and obesity, which can exacerbate the metabolic and reproductive abnormalities associated with the syndrome. Therefore, lifestyle modifications, such as a balanced diet and regular exercise, are often recommended as part of the treatment plan for women with PCOS [4].
Treatment Options for PCOS
Unfortunately, there is no cure for PCOS. The treatment is tailored to managing the individual symptoms and preventing the occurrence of complications.
To manage the metabolic and cardiovascular complications, lifestyle changes including diet and exercise are recommended.
The symptoms of hyperandrogenism and some of the metabolic complications can be managed pharmacologically. Various drugs can be components of the treatment programme, including:
- Metformin: Reduces insulin resistance and hyperandrogenism,
- Oral contraceptives: Regulate menstrual cycles and reduce manifestations of hyperandrogenism,
- Clomiphene citrate: Treatment for anovulatory infertility,
- Inositols: Improve metabolic abnormalities,
- Thiazolidinediones: Reduce insulin resistance,
- Statins: Reduce hyperandrogenism and improve lipid profile,
- GLP-1 receptor agonists: Manage metabolic aspects [4].
Tubular breasts and PCOS: What is the connection?
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It is believed that the primary drivers of tubular breasts and PCOS are different, as:
- tubular breasts is believed to be a congenital (occurring during development) condition,
- PCOS is a hormonal disorder.
As for patient reports, there are no publications investigating the connection between the two. This may be because tubular breasts are a benign (not dangerous) condition, and the physicians need to focus on PCOS in a patient who would have both, due to the more serious nature and potential complications of PCOS.
However, both conditions are related to hormonal imbalances, suggesting that there may be linked through a hormonal or genetic mechanism, which is not yet understood. Further research is needed to explore this potential connection.