Breast Disorders and Gynecomastia

Holly C. Gooding

Amy D. DiVasta

While serious breast disorders are rare during adolescence and young adulthood, breast complaints and anxieties regarding normal development are common (Table 55.1).¹ Health care providers must understand normal breast development and its variations, common breast complaints including breast masses, galactorrhea, and gynecomastia, and warning signs of serious disease. When evaluating breast complaints, key historical features assist the clinician (Table 55.2).

NORMAL DEVELOPMENT

Breast tissue begins as ectoderm-derived mammary bands apparent in embryos 4 mm in length. By the time of birth, breast glands in newborns are still rudimentary. Until puberty, male and female breast development is equivalent. During puberty, the breast goes through several developmental stages in response to an increase in sex hormones as outlined in Chapter 2.

The milk-producing alveolus, or terminal duct, is the primary unit of the breast. Ten to 100 alveoli make up a lobule, which drains into lactiferous ducts that merge to form a sinus beneath the nipple. The fibrous tissue stroma surrounds and supports the lobules and ducts. Other structures in the breast include lymphatics, fat tissue, and nerves.²

Women of reproductive age tend to have breasts with a nodular texture representing the glandular units/lobules of the breast. During each menstrual cycle, these units undergo proliferative changes under hormonal stimulation. This nodularity can increase, particularly with lobular enlargement and edema that may occur toward the end of menstrual cycles. This process may vary from a feeling of breast fullness to distinct masses, the latter suggestive of a pathological process.

TABLE 55.1 Common Breast Complaints in Female Adolescents

Congenital Anomalies	Disorders of Development	Benign Breast Disease
Polythelia	Asymmetry	Mastalgia
Polymastia	Macromastia	Nipple discharge
Supernumerary breast	Hypoplasia	Mastitis
Amastia Inverted nipple	Tuberous breast deformity Gynecomastia	Abscess Mass

CONGENITAL ANOMALIES

Aberrant Breast Tissue

Failure of the primordial milk crest to regress leads to the persistence of breast tissue along the milk line in 2% to 6% of women.

Polythelia: accessory nipple; the most common congenital breast anomaly in males and females. Not associated with other congenital anomalies
Polymastia: presence of accessory breast tissue along the milk line
Supernumerary breast: presence of a nipple and underlying breast tissue. May be associated with renal anomalies

If the diagnosis is uncertain from clinical exam, ultrasonography or biopsy can be done. No excision is needed unless the mass increases in size or the patient has cosmetic concerns.

TABLE 55.2 Historical Features Key to Evaluate Breast Complaints in Adolescent/Young Adult Females

1.	History of symptoms: Duration, timing, relationship of symptoms with menses. If pain is present, what are the exacerbating and alleviating factors? Has there been any breast discharge, skin change, trauma, or change in breast size?
2.	Change in size of mass: Masses that change in size with menstrual cycles may be cysts; those that do not are more likely solid masses. Sudden increase in growth is a concerning sign
3.	Medication history: Recent initiation of certain medications could explain mastodynia (estrogen/progesterone oral contaceptivel) or nipple discharge
4.	History of trauma to the breast
5.	Past medical history: Certain factors increase the risk of malignancy. Chest wall radiation increases the risk of subsequent breast cancer. A history of malignancy that can metastasize to the breast (lymphoma, rhabdomyosarcoma) should raise concern. Any patient with a history of cancer must be followed up carefully for evidence of recurrence, including breast cancer recurrence
6.	Family history: First-degree family members affected by cancer increase a patient’s risk; the age of these family members should be carefully documented. Screening for breast disease should begin 10 years before the age at which the youngest close relative was diagnosed. Patients with strong family histories of breast cancer, especially if bilateral disease or in conjunction with ovarian or endometrial cancer, should be referred for genetic counseling

FIGURE 55.1 A 14-year-old girl with Poland syndrome. Note the right-sided amastia. (From Shamberger RC. Chest wall deformities. In: Shields TW, ed. General thoracic surgery. 4th ed. Baltimore: Williams & Wilkins, 1994:529-557.)

Absence of Breast Tissue (Amastia and Athelia)

Amastia, absence of breast tissue, results from complete involution of the mammary ridge. Amastia is a rare, usually unilateral abnormality. Iatrogenic amastia can occur if the developing breast undergoes surgical procedures such as biopsy. Poland syndrome presents with amastia, ipsilateral rib anomalies, webbed fingers, and radial nerve palsies. Amastia can be extremely disturbing to adolescents and young adults (AYAs), but can be surgically corrected (Fig. 55.1).³ Athelia is the absence of the nipple on one or both sides, and can be corrected surgically.³

DISORDERS OF BREAST DEVELOPMENT

Breast Asymmetry

Some degree of breast asymmetry and differential rates of breast growth are normal. Breast asymmetry may also be caused by a large mass that distorts the normal breast tissue, such as a giant fibroadenoma; these masses are typically evident during a routine breast examination. Pseudoasymmetry is also a possibility, resulting from deformities of the rib cage such as a pectus excavatum. If the physical examination is normal other than the asymmetry, the appropriate treatment is reassurance. Most asymmetry seen during early puberty will resolve completely by adulthood. After sexual maturity rating (SMR) 4, however, significant asymmetry is unlikely to resolve on its own. Plastic surgical correction can be offered to those with marked asymmetry or significant distress.⁴ In the discussion with the patient and her family, the health care provider must be sensitive to the adolescent’s desire to be “normal” and not appear different than her peers. What may seem like a trivial issue to an adult may provoke shame and embarrassment in an adolescent.

Macromastia

Macromastia, or breast overgrowth, can be associated with many physical and psychological symptoms. Macromastia is more than a cosmetic concern; its potential negative impact should not be underestimated.⁵ The cause of macromastia is not well understood, but may represent an abnormal response of the breast to normal hormonal stimulation, especially by estrogen. Obesity and macromastia are closely related, but the relationship is complex.

Clinical manifestations: Physical complaints include back and shoulder pain, postural changes, breast discomfort, mood disturbances, intertrigo, and limited ability to participate in physical activity. Adolescents are also concerned about self-image, difficulty finding clothing that fits, and unwanted social attention.
Diagnosis: Evaluation should include a thorough examination and ultrasound if needed to rule out any underlying mass.
Management: Patients should be fit for a supportive, comfortable bra. Weight loss may help to improve symptoms for obese patients. For persistent symptoms, reduction mammoplasty is performed in adolescents who have completed breast growth to prevent the need for a second procedure. Adolescents report a high rate of both satisfaction and symptom relief following surgery.⁶ Patients should be referred to a plastic surgeon with experience in treating teens, and who are sensitive to the teens’ particular body image concerns.

Breast Hypoplasia

Breast hypoplasia, or undergrowth of breast tissue, may also be present in adolescence. Underlying causes include iatrogenic injury, trauma, malnutrition, aggressive athletic activity, or an idiopathic condition. Other disorders in the differential diagnosis include premature ovarian failure, androgen excess (from tumor or exogenous anabolic steroid use), and chronic diseases (diabetes mellitus, inflammatory bowel disease) that lead to weight loss. Workup consists of a careful physical examination, as well as search for underlying causes. Treatment is targeted at the underlying primary disorder. Idiopathic breast hypoplasia can be addressed by a plastic surgeon.

Tuberous Breast Deformity

Tuberous breast deformity (Fig. 55.2) is a rare disorder of breast development. Patients present with long, narrow, ptotic breasts that appear to be the result of an overdevelopment of the nipple-areolar complex with an underdevelopment of the breast mound. Treatment of choice is plastic surgery; reassurance is also an option for milder cases.

BENIGN BREAST DISEASE

Mastalgia

Breast pain can be a distressing problem and affects up to 50% of reproductive-age young women.² Mastalgia can be cyclic pain
(worse immediately before menses) or noncyclic pain (mastodynia). Common causes include premenstrual fibrocystic changes, exercise, infection, early pregnancy, or medications such as oral contraceptives. The evaluation should include a breast assessment and a pregnancy test. Once the diagnosis of mastalgia or mastodynia has been made, treatment includes analgesics (nonsteroidal anti-inflammatory drugs), good bra support (both night and day if needed), and reassurance. Most breast pain resolves spontaneously within 3 to 6 months. Oral contraceptives may improve or worsen breast pain, possibly in a dose-related manner. Evening primrose oil and vitamin E have shown some efficacy in small trials.

FIGURE 55.2 Tuberous breast deformity. Note the overdevelopment of the superior aspect and nipple-areolar complex on the right. (Courtesy of David A. Horvath, MD.)

Breast Infection

Mastitis or breast abscesses present with an acute history of a red inflamed breast. Predisposing conditions include pregnancy, lactation, recent cessation of breast-feeding, preexisting cyst/ductal ectasia (see below), and breast trauma.

Clinical manifestations: Constitutional symptoms (malaise, fever) may occur. Physical examination reveals an edematous erythematous breast, possibly with purulent discharge (Fig. 55.3). A discrete abscess may be palpated as an area of fluctuance.
Diagnosis: Any purulent breast drainage or nipple discharge should be sent for culture. Abscess can be confirmed with ultrasound if necessary.
Management: For simple mastitis, treat with antibiotics for 7 to 10 days and warm compresses. Antibiotic therapy should be targeted at the most likely pathogens (Staphylococcus aureus, streptococci, enterococcus). Dicloxacillin or amoxicillin-clavulanic acid provides adequate coverage of skin pathogens. For penicillin-allergic patients, clindamycin is a good choice. If patients are breast-feeding, expression of milk from the affected side should continue to prevent milk stasis. Infants can continue breast-feeding from the affected side.
Abscess: Patients should be reexamined within several days to confirm response to therapy. Persistent infection despite antibiotic therapy should be evaluated with re-examination of the breast and ultrasonography for an underlying abscess. Abscess drainage can be attempted in the office with a large-bore needle. If needle aspiration is unsuccessful or if the abscess re-accumulates, the patient should be referred for incision and drainage. Incisions should be as small as possible to limit resulting distortion. Material obtained at aspiration or incision and drainage should be cultured. Infections that fail to respond to adequate antibiotic therapy should also be referred for surgical management. These patients should be screened for underlying immunosuppressive disease that may interfere with their ability to clear the infection, like diabetes mellitus or human immunodeficiency virus infection.

FIGURE 55.3 Mastitis. (From Sweet RL, Gibbs RS. Atlas of infectious diseases of the female genital tract. Philadelphia, PA: Lippincott Williams & Wilkins, 2005.)

Nipple Discharge

Nipple discharge can be caused by endocrine disorders, as well as breast pathology. The first step in the evaluation is to distinguish the discharge itself. Milky discharge suggests galactorrhea (see further details below). Non-milky discharge (watery, serous, purulent, serosanguinous, bloody) usually indicates an underlying breast or nipple problem, with the following etiologies most common in AYAs⁷:

Contact dermatitis: Local contact dermatitis of the nipple can give rise to serous, purulent, or bloody discharge. Culprits include soap, clothes, clothing detergent, or lotion used by the patient. Treatment is identification and discontinuation of the offending agent, with topical steroid cream for symptom relief.
Infection: Purulent discharge indicates infection. Culture the discharge, and treat with appropriate antibiotics and warm compresses. If the infection fails to respond to antibiotic therapy, incision and drainage may be indicated.
Montgomery tubercles: The periareolar glands of Montgomery will occasionally drain fluid through ectopic openings on the areola. Discharge is usually serous or serosanguinous. Ultrasound can confirm the clinical suspicion through visualization of the retroareolar cyst. Discharge will resolve spontaneously.
Mammary duct ectasia: Ductal ectasia refers to dilation of the mammary ducts as well as periductal inflammation. No clear etiology is known. Discharge is usually serous or serosanguinous. Ultrasound can confirm the diagnosis. Treatment includes reassurance and supportive care; mastitis risk may be slightly increased.⁸
Intraductal papilloma: These rare, benign, proliferative tumors often present with bloody discharge from a single duct. They represent a focal hyperplasia of the ductal epithelium invaginating into the duct on a vascular stalk. Disruption of this stalk leads to the bloody discharge. If the proliferation of duct epithelium grows large enough, it creates a palpable mass. Although an infrequent finding in AYAs, a palpable mass associated with a bloody nipple discharge has a 95% probability of being an intraductal papilloma, even in teens. Ultrasound and potentially ductogram should be performed. Any abnormality found should be excised. Bloody discharge is usually not related to underlying carcinoma in the AYA age-group.

GALACTORRHEA

Galactorrhea is the secretion of milk or a milk-like fluid from the breast in the absence of parturition or beyond 6 months postpartum in a non-breast-feeding woman or man. It is usually bilateral, may occur intermittently or persistently, and may be spontaneous or expressed. Other types of discharge do not suggest galactorrhea (see other causes of nipple discharge above).

Prolactin secretion from lactotrophs of the anterior pituitary gland (Fig. 55.4) is necessary for normal lactation. Dopamine binds to lactotrophs, and inhibits prolactin secretion. Transection or compression of the pituitary stalk increases prolactin secretion by interfering with dopaminergic pathways. Prolactin secretion is also increased by stress, suckling, sleep, and intercourse.

Etiology

In women, most galactorrhea is caused by hyperprolactinemia from prolactinomas (benign anterior pituitary neoplasms that secrete prolactin through lactotroph hyperplasia) or secondary to medications (Table 55.3). Less common causes of hyperprolactinemia include:⁹

Hypothalamic and infundibular lesions, including craniopharyngiomas, infiltrative disorders, and damage to the
infundibulum from surgery or head trauma (inhibition of counterregulatory dopamine release)

FIGURE 55.4 Schema of prolactin control. PIF, prolactin-inhibiting factors; PRF, prolactin-releasing factors; TRH, thyrotropin-releasing hormone.

TABLE 55.3 Medications Causing Hyperprolactinemia

*Antipsychotics*	*Antihypertensive agents*
Risperidone	Verapamil
Olanzapine	α-Methyldopa
Butyrophenones (haloperidol)	Reserpine
Phenothiazines
	*Gastrointestinal medications*
*Antidepressants*	Metoclopramide
Tricyclic antidepressants	Domperidone
Monoamine oxidase inhibitors
Selective serotonin reuptake inhibitors	*Other medications* Opiates and opiate antagonists
	Estrogens Anesthetics Anticonvulsants Antihistamines (H2) Dopamine-receptor blockers