This condition is also known as constricted breasts, tubular breasts, snoopy breasts (may be considered insulting), herniated areolar complexes, conical breast, domen nipple, lower pole hypoplasia and hypoplastic breasts.

Micromastia can be congenital or disorder and may be unilateral or bilateral. Congenital causes include ulnar–mammary syndrome (caused by mutations in the TBX3 gene), Poland syndrome, Turner syndrome, and congenital adrenal hyperplasia. There is also a case report of familial hypoplasia of the nipples and athelia associated with mammary hypoplasia that was described in a father and his daughters. Acquired causes of micromastia include irradiation in infancy and childhood and surgical removal of prepubertal breast bud.

Tuberous breasts are not simply small or underdeveloped breasts. The effect of the condition on the appearance of the breast can range from mild to severe, and typical characteristics include: enlarged, puffy areola, unusually wide spacing between the breasts, minimal breast tissue, sagging, higher than normal breast fold, and narrow base at the chest wall. The condition can cause low milk supply in breastfeeding women. However, other physical aspects of fertility and pregnancy are not affected by the condition.

Micromastia (also called hypomastia, breast aplasia, breast hypoplasia, or mammary hypoplasia) is a medical term describing the postpubertal underdevelopment of a woman's breast tissue. Just as it is impossible to define 'normal' breast size, there is no objective definition of micromastia. Breast development is commonly asymmetric and one or both breasts may be small. This condition may be a congenital defect associated with underlying abnormalities of the pectoral muscle (as in Poland's syndrome), related to trauma (typically surgery or radiotherapy) or it may be a more subjective aesthetic description.

Self perceived micromastia involves a discrepancy between a person's body image, and her internalized images of appropriate or desirable breast size and shape. Societal ideals over breast size vary over time, but there exist many conceived ideas involving breasts and sexual attractiveness and identity across different cultures.

When gigantomastia occurs in young women during puberty, the medical condition is known as "juvenile macromastia" or "juvenile gigantomastia" and sometimes as "virginal breast hypertrophy" or "virginal mammary hypertrophy". Along with the excessive breast size, other symptoms include red, itchy lesions and pain in the breasts. A diagnosis is made when an adolescent's breasts grow rapidly and achieve great weight usually soon after her first menstrual period. Some doctors suggest that the rapid breast development occurs before the onset of menstruation.

Some women with virginal breast hypertrophy experience breast growth at a steady rate for several years, after which the breasts rapidly develop exceeding normal growth. Some adolescent females experience minimal or negligible breast growth until their breasts suddenly grow very rapidly in a short period of time. This may cause considerable physical discomfort. Women suffering VBH often experience an excessive growth of their nipples as well. In severe cases of VBH, hypertrophy of the clitoris occurs.

At the onset of puberty, some females with who have experienced little or no breast development can reportedly reach three or more cup sizes within a few days (see below).

The indication is a breast weight that exceeds approximately 3% of the total body weight. There are varying definitions of what is considered to be excessive breast tissue, that is the expected breast tissue plus extraordinary breast tissue, ranging from as little as up to with most physicians defining macromastia as excessive tissue of over . Some resources distinguish between macromastia (Greek, "macro": large, "mastos": breast), where excessive tissue is less than 2.5 kg, and gigantomastia (Greek, "gigantikos": giant), where excessive tissue is more than 2.5 kg. The enlargement can cause muscular discomfort and over-stretching of the skin envelope, which can lead in some cases to ulceration.

Hypertrophy of the breast can affect the breasts equally, but usually affects one breast more than the other, thereby causing asymmetry, when one breast is larger than the other. The condition can also individually affect the nipples and areola instead of or in addition to the entire breast. The effect can produce a minor size variation to an extremely large breast asymmetry. Breast hypertrophy is classified in one of five ways: as either pubertal (virginal hypertrophy), gestational (gravid macromastia), in adult women without any obvious cause, associated with penicillamine therapy, and associated with extreme obesity. Many definitions of macromastia and gigantomastia are based on the term of "excessive breast tissue", and are therefore somewhat arbitrary.

Accessory breasts, also known as polymastia, supernumerary breasts, or mammae erraticae, is the condition of having an additional breast. Extra breasts may appear with or without nipples or areolae. It is a condition and a form of atavism which is most prevalent in male humans, and often goes untreated as it is mostly harmless. In recent years, many affected women have had a plastic surgery operation to remove the additional breasts, for purely aesthetic reasons.

A related condition, in which extra nipples form, is called "supernumerary nipple" or "polythelia".

The changes in fibrocystic breast disease are characterised by the appearance of fibrous tissue and a lumpy, cobblestone texture in the breasts. These lumps are smooth with defined edges, and are usually free-moving in regard to adjacent structures. The bumps can sometimes be obscured by irregularities in the breast that are associated with the condition. The lumps are most often found in the upper, outer sections of the breast (nearest to the armpit), but can be found throughout the breast. Women with fibrocystic changes may experience a persistent or intermittent breast aching or breast tenderness related to periodic swelling. Breasts and nipples may be tender or itchy.

Symptoms follow a periodic trend tied closely to the menstrual cycle. Symptoms tend to peak in the days and, in severe cases, weeks before each period and decrease afterwards. At peak, breasts may feel full, heavy, swollen, and tender to the touch. No complications related to breastfeeding have been found.

In some cases, the accessory breast may not be visible at the surface. In these cases, it may be possible to distinguish their appearance from normal breast tissue with MRI. In other cases, accessory breasts have been known to lactate, as illustrated in a woodcut showing a child nursing at ectopic breast tissue on the lateral thigh.

There is some evidence that the condition may be more common in Native American populations.

Symmastia is a condition defined as a confluence of the breast tissue of both breasts across the midline anterior to the sternum. It can be surgically corrected by a plastic surgeon through symmastia revision.

Symmastia can either be a congenital anomaly or iatrogenic. Congenital symmastia is a rare condition with few published cases. Iatrogenic symmastia may occur following breast augmentation, forming what is also colloquially referred to as a "uniboob" or "breadloafing" as a result of the release of skin and muscle tissue around the sternum due to over-dissection.

In ICD-10 the condition is called "diffuse cystic mastopathy", or, if there is epithelial proliferation, "fibrosclerosis of breast". Other names for this condition include "chronic cystic mastitis", "fibrocystic mastopathy" and "mammary dysplasia". The condition has also been named after several people (see eponyms below). Since it is a very common disorder, some authors have argued that it should not be termed a "disease", whereas others feel that it meets the criteria for a disease. It is not a classic form of mastitis (breast inflammation).

Adipomastia, or lipomastia, also known colloquially as fatty breasts, is a condition defined as an excess of skin and adipose tissue in the breasts without true breast glandular tissue. It is commonly present in men with obesity, and is particularly apparent in men who have undergone massive weight loss. A related/synonymous term is pseudogynecomastia. The condition is different and should be distinguished from gynecomastia ("women's breasts"), which involves true glandular breast development in a male. The two conditions can usually be distinguished easily by palpation to check for the presence of glandular tissue. Another difference between the conditions is that breast pain/tenderness does not occur in pseudogynecomastia. Sometimes, gynecomastia and pseudogynecomastia are present together; this is related to the fact that fat tissue expresses aromatase, the enzyme responsible for the synthesis of estrogen, and estrogen is produced to a disproportionate extent in men with excessive amounts of fat, resulting in simultaneous glandular enlargement.

If the cause can be traced to the hypothalamus or pituitary, the cause is considered central. Other names for this type are "complete" or "true precocious" puberty.

Causes of central precocious puberty can include:

- damage to the inhibitory system of the brain (due to infection, trauma, or irradiation),

- hypothalamic hamartoma produces pulsatile gonadotropin-releasing hormone (GnRH),

- Langerhans cell histiocytosis, or

- McCune–Albright syndrome.

Central precocious puberty can be caused by intracranial neoplasm, infection (most commonly central nervous system tuberculosis especially in developing countries), trauma, hydrocephalus, and Angelman syndrome. Precocious puberty is associated with advancement in bone age, which leads to early fusion of epiphyses, thus resulting in reduced final height and short stature.

Precocious puberty can make a child fertile when very young, with the youngest mother on record being Lina Medina, who gave birth at the age of 5 years, 7 months and 17 days, in one report and at 6 years 5 months in another.

"Central precocious puberty (CPP) was reported in some patients with suprasellar arachnoid cysts (SAC), and SCFE (slipped capital femoral epiphysis) occurs in patients with CPP because of rapid growth and changes of growth hormone secretion."

If no cause can be identified, it is considered idiopathic or constitutional.

Anisomastia is a medical condition in which there is a severe asymmetry or unequalness in the size of the breasts, generally related to a difference in volume. In other words, when one of the breasts is much larger than the other. In contrast to anisomastia, a slightly asymmetry of the breasts is common. Anisomastia may be corrected by surgical breast augmentation or reduction.

Secondary sexual development induced by sex steroids from other abnormal sources is referred to as "peripheral precocious puberty" or "precocious pseudopuberty." It typically presents as a severe form of disease with children. Symptoms are usually as a sequelae from adrenal insufficiency (because of 21-hydroxylase deficiency or 11-beta hydroxylase deficiency, the former being more common), which includes but is not limited to hypertension, hypotension, electrolyte abnormalities, ambiguous genitalia in females, signs of virilization in females. Blood tests will typically reveal high level of androgens with low levels of cortisol.

Causes can include:

- Endogenous sources

- gonadal tumors (such as arrhenoblastoma),

- adrenal tumors,

- germ cell tumor,

- congenital adrenal hyperplasia,

- McCune–Albright syndrome,

- Exogenous hormones

- Environmental exogenous hormones,

- As treatment for another condition.

Female breast ptosis or sagging is a natural consequence of aging. The rate at which a woman's breasts droop and the degree of ptosis depends on many factors. The key factors influencing breast ptosis over a woman's lifetime are cigarette smoking, her number of pregnancies, gravity, higher body mass index, larger bra cup size, and significant weight gain and loss. Post-menopausal women or people with collagen deficiencies (such as ehlers-danlos) may experience increased ptosis due to a loss of skin elasticity. Many women and medical professionals mistakenly believe that breastfeeding increases sagging. It is also commonly believed that the breast itself offers insufficient support and that wearing a bra prevents sagging which has not been found to be true.

Plastic surgeons categorize the severity of ptosis by evaluating the position of the nipple relative to the infra-mammary fold, the point at which the underside of the breasts attach to the chest wall. In the most advanced stage, the nipples are below the fold and point towards the ground.

Aromatase excess syndrome (AES or AEXS), also sometimes referred to as familial hyperestrogenism or familial gynecomastia, is a rare 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. It affects both sexes, manifesting itself in males as marked or complete phenotypical feminization (with the exception of the genitalia; i.e., no pseudohermaphroditism) and in females as hyperfeminization.

To date, 30 males and 8 females with AES among 15 and 7 families, respectively, have been described in the medical literature.

Galactorrhea hyperprolactinemia is increased blood prolactin levels associated with galactorrhea (abnormal milk secretion). It may be caused by such things as certain medications, pituitary disorders and thyroid disorders. The condition can occur in males as well as females. Relatively common etiologies include prolactinoma, medication effect, kidney failure, granulomatous diseases of the pituitary gland, and disorders which interfere with the hypothalamic inhibition of prolactin release. Ectopic (non-pituitary) production of prolactin may also occur. Galactorrhea hyperprolactinemia is listed as a “rare disease” by the Office of Rare Diseases of the National Institutes of Health. This means that it affects less than 200,000 people in the United States population.

Plastic surgeons describe the degree of breast sagging using a "ptosis scale" like the modified "Regnault ptosis scale" below:

- "Grade I: Mild ptosis"—The nipple is at the level of the infra-mammary fold and above most of the lower breast tissue.

- "Grade II: Moderate ptosis"—The nipple is located below the infra-mammary fold but higher than most of the breast tissue hangs.

- "Grade III: Advanced ptosis"—The nipple is below the inframammary fold and at the level of maximum breast projection.

- "Pseudoptosis"—The nipple is located either at or above the infra-mammary fold, while the lower half of the breast sags below the fold. This is most often seen when a woman stops nursing, as her milk glands atrophy, causing her breast tissue to sag.

- "Parenchymal Maldistribution"—The lower breast tissue is lacking fullness, the inframammary fold is very high, and the nipple and areola are relatively close to the fold. This is usually a developmental deformity.

Fibroadenomas are partially hormone-related and frequently regress after menopause.

Higher intake of fruits and vegetables, higher number of live births, lower use of oral contraceptives and moderate exercise are associated with lower frequency of fibroadenomas.

Nipple discharge refers to any fluid that seeps out of the nipple of the breast. Discharge from the nipple does not occur in lactating women. And discharge in non-pregnant women or women who are not breasfeeding may not cause concern. Men that have discharge from their nipples are not typical. Discharge from the nipples of men or boys may indicate a problem. Discharge from the nipples can appear without squeezing or may only be noticeable if the nipples are squeezed. One nipple can have discharge while the other does not. The discharge can be clear, green, bloody, brown or straw-colored. The consistenct can be thick, thin, sticky or watery.

Some cases of nipple discharge will clear on their own without treatment. Nipple discharge is most often not cancer (benign), but rarely, it can be a sign of breast cancer. It is important to find out what is causing it and to get treatment. Here are some reasons for nipple discharge:

- Pregnancy

- Recent breastfeeding

- Rubbing on the area from a bra or t-shirt

- Trauma

- Infection

- Inflammation and clogging of the breast ducts

- Noncancerous pituitary tumors

- Small growth in the breast that is usually not cancer

- Severe underactive thyroid gland (hypothyroidism)

- Fibrocystic breast (normal lumpiness in the breast)

- Use of certain medicines

- Use of certain herbs, such as anise and fennel

- Widening of the milk ducts

- Intraductal pipilloma

- Subareolar abscess

- Mammary duct ectasia

- Pituitary tumor

Sometimes, babies can have nipple discharge. This is caused by hormones from the mother before birth. It usually goes away in 2 weeks. Cancers such as Paget disease (a rare type of cancer involving the skin of the nipple) can also cause nipple discharge.

Nipple discharge that is NOT normal is bloody, comes from only one nipple, or comes out on its own without squeezing or touching the nipple. Nipple discharge is more likely to be normal if it comes out of both nipples or happens when the nipple is squeezed. Squeezing the nipple to check for discharge can make it worse. Leaving the nipple alone may make the discharge stop.

Symptoms of galactorrhea hyperprolactinemia include a high blood prolactin level, abnormal milk production in the breast, galactorrhea, menstrual abnormalities, reduced libido, reduced fertility, puberty problems, and headaches.

Fibroadenomas, are benign breast tumours characterized by an admixture of stromal and epithelial tissue. Breasts are made of lobules (milk producing glands) and ducts (tubes that carry the milk to the nipple). These are surrounded by glandular, fibrous and fatty tissues. Fibroadenomas develop from the lobules. The glandular tissue and ducts grow over the lobule to form a solid lump.

Since both fibroadenomas, and breast lumps as a sign of breast cancer can appear similar, it is recommended to perform ultrasound analyses and possibly tissue sampling with subsequent histopathologic analysis in order to make a proper diagnosis. Unlike typical lumps from breast cancer, fibroadenomas are easy to move, with clearly defined edges.

Fibroadenomas are sometimes called breast mice or a breast mouse owing to their high mobility in the breast.

Observed physiological abnormalities of the condition include a dramatic overexpression of aromatase and, accordingly, excessive levels of estrogens including estrone and estradiol and a very high rate of peripheral conversion of androgens to estrogens. In one study, cellular aromatase mRNA expression was found to be at least 10 times higher in a female patient compared to the control, and the estradiol/testosterone ratio after an injection of testosterone in a male patient was found to be 100 times greater than the control. Additionally, in another study, androstenedione, testosterone, and dihydrotestosterone (DHT) were found to be either low or normal in males, and follicle-stimulating hormone (FSH) levels were very low (likely due to suppression by estrogen, which has antigonadotropic effects as a form of negative feedback inhibition on sex steroid production in sufficiently high amounts), whereas luteinizing hormone (LH) levels were normal.

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%). As such, estrone is the main estrogen elevated in the condition. In more than half of patients, circulating androstenedione and testosterone levels are low to subnormal. The ratio of circulating estradiol to testosterone is >10 in 75% of cases. FSH levels are said to be consistently low in the condition, while LH levels are in the low to normal range.

It is notable that gynecomastia has been observed in patients in whom estradiol levels are within the normal range. This has been suggested to be due to "in situ" conversion of adrenal androgens into estrone and then estradiol (via local 17β-HSD) in breast tissue (where aromatase activity may be particularly high).

The symptoms of AES, in males, include heterosexual precocity (precocious puberty with phenotypically-inappropriate secondary sexual characteristics; i.e., a fully or mostly feminized appearance), severe prepubertal or peripubertal gynecomastia (development of breasts in males before or around puberty), high-pitched voice, sparse facial hair, hypogonadism (dysfunctional gonads), oligozoospermia (low sperm count), small testes, micropenis (an ususually small penis), advanced bone maturation, an earlier peak height velocity (an accelerated rate of growth in regards to height), 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.

In females, symptoms of AES include isosexual precocity (precocious puberty with phenotypically-appropriate secondary sexual characteristics), macromastia (excessively large breasts), an enlarged uterus, menstrual irregularities, and, similarly to males, accelerated bone maturation and short final height. Of seven females described in one report, three had macromastia (rate of ~43%). A 10-year-old girl with gigantomastia has subsequently also been described.

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.

Breast diseases can be classified either with disorders of the integument, or disorders of the reproductive system. A majority of breast diseases are noncancerous.