Introduction Description: Secondary amenorrhea is the absence of normal menstruation in a patient with previously established cycles. Prevalence: Common. Predominant Age: Reproductive age (menarche to menopause). Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Most common—pregnancy. Other causes—end organ: Asherman syndrome, outflow obstruction; ovarian (40%): polycystic ovary syndrome (PCOS, 30%), menopause, resistant ovary (Savage) syndrome, toxin exposure, surgery, autoimmune disease; central (hypothalamic, 35%), behavioral, and others:…

Introduction Description: Primary amenorrhea is the absence of normal menstruation in a patient without previously established cycles. Prevalence: Uncommon. Predominant Age: Mid to late teens. Genetics: One-third caused by chromosomal abnormalities such as 45,XO, 46,XY gonadal dysgenesis, or 46,XX q5 X long-arm deletion. Etiology and Pathogenesis Causes: Gonadal abnormalities (failure, 60% of patients)—autoimmune ovarian failure (Blizzard syndrome), gonadal dysgenesis, pure gonadal dysgenesis, 45,XO (Turner syndrome, 43%…

Introduction Description: Paget disease of the breast is a malignant process that involves the nipple and areola. It may also rarely involve the skin of the vulva. Paget disease is named for the 19th-century British doctor Sir James Paget, who, in 1874, noted a relationship between changes in the nipple and breast cancer. Prevalence: 1%–4% of breast cancers. Predominant Age: Menopausal and perimenopausal age. Average is…

Introduction Description: Nipple discharge is a distressing symptom that accounts for approximately 5% of breast complaints. Prevalence: 3%–5% of breast problems; 5% of women who are not lactating; more than 80% of women can express secretions, third most common breast complaint. Predominant Age: Reproductive age (based on pathophysiologic changes). Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Based on underlying pathophysiologic changes. Risk Factors: See individual…

Introduction Description: Mondor disease, or superficial angiitis, is a superficial thrombophlebitis of the breast. Prevalence: Uncommon, considered to occur in up to 0.8% of women. Predominant Age: 30–60 years. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Phlebitis is most often linked to recent pregnancy, trauma, or operative procedures but may spontaneously occur. It most often involves the thoracoepigastric veins of the breast. Risk Factors: Pregnancy,…

Introduction Description: Mastalgia is the nonspecific term that is used for breast pain of any etiology. Although breast pain frequently occurs to nursing mothers, the terms are generally reserved for non–pregnancy related symptoms. Prevalence: Most women (70%) experience breast pain at some point in their lives (most are transient). Roughly 15% of women who experience it will require treatment. Predominant Age: Reproductive age. Genetics: No genetic…

Introduction Description: Mastitis is an infection of one or more ductal complexes of the breast, generally associated with breastfeeding and potentially causing significant morbidity if not recognized and aggressively treated. Prevalence: 2%–10% of women who are breastfeeding after delivery. Hospitalization for mastitis occurs in 9/10,000 deliveries. Predominant Age: Reproductive age; 2–12 weeks after delivery. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Infection comes from organisms…

The Challenge The challenge in mammography is to effectively use mammography to detect occult disease. Scope of the Problem: First developed in 1965 the widespread use of mammography has been credited with reducing the mortality rate of breast cancer by up to 30% since 1990. (The relative roles of imaging and improved treatment protocols in this improvement is unknown.) Unfortunately, not all women undergo appropriate screening…

Introduction Description: Spontaneous, bilateral nipple discharge (milky fluid only) unrelated to pregnancy or breastfeeding. Prevalence: Uncommon, but reports vary from 1%–30%, depending on the population studied. Predominant Age: Reproductive age. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Pituitary adenoma (generally <10 mm), disruptions in thyroid or prolactin hormone levels, pharmacologic (most often those drugs that affect dopamine or serotonin), second-generation histamine 2 receptor antagonists (cimetidine),…

Introduction Description: Galactocele is the cystic dilation of a duct or ducts, with inspissated milk and desquamated epithelial cells that may become infected, resulting in acute mastitis or an abscess. Prevalence: Common in asymptomatic form. Predominant Age: Reproductive (lactating) age. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Ductal obstruction and inflammation during or soon after lactation may lead to cystic dilation of a duct or…

Introduction Description: Fibrocystic breast changes are characterized by stromal and ductal proliferation that results in cyst formation, diffuse thickening, cyclic pain, and tenderness. The term fibrocystic change encompasses a multitude of different processes and older terms, including fibrocystic disease. It is the most common of all benign breast conditions, accounting for its linguistic demotion to “change” from the designation “disease.” Prevalence: 60%–75% of all women. Predominant…

Introduction Description: Intraductal papilloma involves polypoid fibrovascular tumors that are covered by benign ductal epithelium and that arise in the ducts of the breast. Prevalence: Found in 0.4% of the general population and up to 20% of women older than 70 years. Predominant Age: Median age is 40 years; most common just before menopause. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Unknown. Risk Factors: None…

Introduction Description: Fibroadenomas are the second most common form of breast disease and the most common breast mass. Prevalence: 2%–3% of women (some state as many as 25% of all women). Predominant Age: 15–35 years; most are younger than 30 years. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Unknown. Risk Factors: Twice as common in Black women (30% of breast complaints), patients with high hormone…

Introduction Description: Trauma to the breast may result in necrosis of fatty tissues, leading to an ill-defined mass that can mimic cancer. Prevalence: Uncommon. Fat necrosis manifests in 0.8% of breast tumors and 1%–9% of breast reduction surgeries. Predominant Age: Reproductive age. Most at risk are middle-aged women; peak age 50 years. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Fat necrosis is most often the…

Introduction Description: Duct ectasia is the dilation of the ducts of the breast with the inspissation of normal secretions, arising from chronic intraductal and periductal inflammation. Prevalence: Relatively common in asymptomatic form. Up to one-third of cases of pathologic nipple discharge. Predominant Age: Older than 50 years, although it may occur in children and adolescents. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Chronic intraductal and…

The Challenge Cystic breast masses are frequently encountered during the clinical care of women. The challenge is sorting out those that represent a threat from those that may be conservatively followed up. Scope of the Problem: Some authors estimate that cysts form in the breasts of approximately 50% of women during their reproductive years. Roughly one in four women requires medical attention for some form of…

Introduction Description: Breast cancer is a malignant neoplasm of the breast that is classified with respect to the cell type, location, and degree of invasion. Breast cancer is the second most common malignancy in women (second to skin cancers), accounting for almost one-third of all women’s malignancies. Breast cancer accounts for approximately 18% of cancer deaths (second to lung cancer) and results in approximately the same…

The Challenge Description: In normal cells, the BRCA1 and BRCA2 genes encode for double-strand DNA repair proteins that keep the cells from abnormally growing. Although hundreds of mutations to these genes have been identified, only a limited number are associated with an increased tumor risk. A lack of BRCA1 function seems to lead to nonfunctional X-chromosome inactivation, preferentially leading to breast and ovarian cancers. When abnormal,…

Introduction Description: Accessory nipples are supernumerary nipples found along defined developmental lines known as the “milk lines.” Prevalence: Observed in 0.22%–2.5% of women and in up to 5%–6% of Asian women. Predominant Age: Congenital in origin. Present in 1% of births (both males and females) Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Developmental abnormality. Risk Factors: More common in males and in African-Americans. Signs and…

Introduction Description: A transitional cell (Brenner) tumor is an epithelial tumor that is composed of cells that resemble urothelium and Walthard cell nests, intermixed with the ovarian stroma. Most Brenner tumors are benign (95%). Prevalence: 1%–3% of ovarian tumors. Predominant Age: 40–80 years; average age is 50 years. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Unknown. Most are derived from ovarian surface epithelium that undergoes…