Diseases of the human reproductive system include abnormal hormone production by the ovaries or the testes or by other endocrine glands, such as the pituitary, thyroid, or adrenals. Such diseases can also be caused by genetic or congenital abnormalities, infections, tumours, or disorders of unknown cause.
The main divisions of this article are concerned with (1) genetic and congenital abnormalities, (2) functional genital disorders, (3) infections, (4) structural changes of unknown cause, and (5) tumours. For discussion of diseases and disorders affecting pregnancy, see pregnancy. For diseases and disorders affecting childbirth, see parturition. Hormonal disorders affecting reproductive organs and functions are also discussed in the article human endocrine system.
A. GENETIC AND CONGENITAL ABNORMALITIES
In the male
Congenital anomalies of the prostate gland and seminal vesicles are rare; they consist of absence, hypoplasia (underdevelopment), or the presence of fluid- or semisolid-filled sacs, called cysts. Cysts of the prostatic utricle (the uterine remnant found in the male) are often found in association with advanced stages of hypospadias (a defect in the urethra, see below) and pseudohermaphroditism, a condition in which sex glands are present but bodily appearance is ambiguous as to sex; i.e., the secondary sexual characteristics are underdeveloped. Cysts may also cause urinary obstructive symptoms through local pressure on the bladder neck.
Severe anomalies of the penis are rare and are generally associated with urinary or other systemic defects that are incompatible with life. Anomalies are those of absence, transposition, torsion (twisting), and duplication of the penis. An abnormally large penis frequently is present in males with precocious puberty, dwarfism, an overactive pituitary, or adrenal tumours. A small penis is seen in infantilism and in underdevelopment of the genitals, or undersecretion of the pituitary or pineal gland, and failure of development of the corpora cavernosa (erectile tissue located on the dorsal side of the penis).
The only anomaly of the foreskin is congenital phimosis, characterized by a contracture of the foreskin, or prepuce, which prevents its retraction over the glans (the conical structure that forms the head of the penis); the preputial opening may impede the flow of urine. The condition is treated by circumcision.
There is a considerable variety of urethral anomalies. Stenosis (contracture) of the external opening (meatus) is the most common, but congenital stricture of the urethra occasionally occurs at other points. Valves (or flaps) across the anterior or posterior part of the urethra may cause congenital urethral obstruction in males. Posterior urethral valves are more common than anterior valves and consist of deep folds of mucous membrane, often paper-thin and usually attached at one end to the verumontanum, a small prominence in the back wall of the part of the urethra that is surrounded by the prostate gland. If too tight, the valves may obstruct the urethra and damage the kidneys.
Various defects are associated with incomplete closure of the urethra. One of the most common is hypospadias, in which the underside (ventral side) of the urethral canal is open for a distance at its outer end. Frequently the meatus is narrowed, and the penis also has a downward curvature beyond the meatus. The posterior part of the urethra is never involved; therefore, the muscle that closes the urethra functions normally, and urinary control exists. Although the condition occurs in both sexes, it is seen predominantly in the male. There is a high incidence of partial or complete failure of the testes to develop, of cryptorchidism (failure of one or both of the testes to descend into the scrotum), and of small external and internal genitalia. Epispadias, an opening in the upper (dorsal) side of the penis, is considerably less common than hypospadias. Dorsal curvature may also be present, but the disabling aspect is that the defect usually extends through the urinary sphincter and causes urinary incontinence. Other less common urethral anomalies include complete absence of the urethra, double urethra, urethra fistula (an opening in the urethra), urethrorectal fistula (an opening between the urethra and the rectum), and urethral diverticulum (a pouch in the wall of the urethra). Most of the above conditions are correctable by surgery.
Anorchism (absence of one or both testes) is rare; it may be associated with the absence of various other structures of the spermatic tract. Generally, if one testis (also called testicle) is absent, the other is found to be within the abdomen rather than in the scrotum. Congenitally small testes may be a primary disorder or may occur because of underactivity of the pituitary. In both disorders, there is a lack of development of secondary sexual characteristics and some deficiency in libido and potency. Supernumerary testicles are extremely rare; when present, one or more of the supernumerary testicles usually shows some disorder such as torsion of the spermatic cord. Synorchism, the fusion of the two testicles into one mass, may occur within the scrotum or in the abdomen. Cryptorchidism, the most common anomaly of the spermatic tract, is the failure of one or both of the testes to descend spontaneously into the scrotum; hormonal treatment may be useful in correcting the condition, but usually surgery is necessary for correction.
In the female
The female external genitalia are less complex than those of the male but have anomalies that can at times severely interfere with the functioning of the female urogenital tract. The clitoris, an erectile structure that corresponds to the penis, except that it does not contain the urethra, may be absent but in other cases may be enlarged on either a congenital or a hormonal basis. Fusion of the labia minora (small folds of skin covering the clitoris, the urethral opening, and the opening of the vagina) is a midline "sealing together"; usually a minute unfused area is left just below the clitoris, through which urine and menstrual fluid can flow. The chief difficulty with this anomaly is concerned with obstruction to the flow of urine and associated urinary tract infection. An imperforate hymen (the membrane closing off the opening of the vagina) causes distension of the uterus and vagina with fluid other than blood before puberty and with blood after puberty (the two conditions are called hydrometrocolpos and hematocolpometra, respectively). The distended vagina compresses the urethra enough to interfere with urination and commonly may even cause complete retention of urine in the bladder and distension of the entire upper urinary tract. Fusion of the urethra and the hymen is characterized by a dense hymenal ring and a stenosed urethral opening. The consequent urinary obstruction commonly results in persistent urinary infection. Most of the conditions are readily treated by surgery.
Anomalies of the vagina and uterus consist of complete absence, incomplete development, and duplication. The female urethra may have a congenitally narrow opening, or meatus; it may be distended; it may have an abnormal pouch, or diverticulum, in its wall; or it may open abnormally into the vagina. Hypospadias may occur in the female but is far less common than in the male. Epispadias is also present in the female. Reconstructive surgery is the only method of treatment. One of the rarest and most severe of the urogenital-tract anomalies, called urogenital cloaca, consists of congenital intercommunication between the rectum and the urinary bladder and vagina or between the rectum and the urethra and vagina.
B. INTERSEXUALITY
Intersexuality (having both male and female characteristics) may be noticeable at birth or may become apparent after puberty. Intersexuality noticeable at birth may be classified as female or male pseudohermaphroditism or true hermaphroditism. Female pseudohermaphroditism, or female intersex, may be of adrenal or nonadrenal type. The adrenal type develops because of an inborn error in the metabolism of the adrenal hormone cortisol that leads to an increased secretion of corticotropin (ACTH) and consequent excessive secretion of androgens (male sex hormones). A newborn female with this condition is a chromosomal female and resembles a normal female, but an excess of male hormone has a masculinizing effect on the external genitalia; the vagina tends to be connected to the urethra and the clitoris is enlarged, as are the labia (the labia majora are prominent folds of skin, corresponding to the scrotum in the male). Effective treatment can be achieved by administration of adrenal hormones (e.g., cortisone, hydrocortisone), which suppress the pituitary so that its stimulus to adrenal production of androgenic hormones is minimized. The nonadrenal type of intersex is seen in infants whose mothers have been administered synthetic androgens or progestational compounds (substances that stimulate changes in the uterus that further the implantation and growth of the fertilized ovum) during pregnancy. Rarely, the condition is associated with the presence in the mother of a tumour of the ovary or adrenal gland. The newborn infant is a female with varying degrees of ambiguous genitalia; no treatment is necessary, and normal female development occurs at puberty.
Male pseudohermaphrodites are males with varying deficiencies of internal and external virilization. Most commonly, the male intersex has a markedly hypospadiac penis, undescended testes, a cleft scrotum, and an enlarged prostatic utricle; a complete uterus and fallopian tubes may be found, with the vagina opening into the posterior wall of the urethra. (Such persons are pseudohermaphrodites in that they do not have ovaries.)
True hermaphrodites have recognizable ovarian and testicular tissue. A uterus is always present, but the internal genitalia otherwise vary greatly, often including both male and female structures. The external genitalia are usually ambiguous, and a sizable phallus is present; therefore, most of these children are raised as males. At puberty, over 80 percent of them develop enlarged breasts, and approximately half menstruate. Most hermaphrodites are chromatin positive—that is, they have, within and near the periphery of the nuclei of their cells, a substance, chromatin, that is normally found in the cells of females but not in those of males—and over half have a characteristically female set of chromosomes in their peripheral blood cells.
Surgical and hormonal therapy directed at producing either a male or a female configuration of the body is based on the existing physical and psychological findings. Treatment also depends upon the age at which the diagnosis is made.
Klinefelter syndrome, Turner syndrome, and testicular feminization are intersexuality syndromes that become apparent prior to or after puberty. Klinefelter syndrome is a genetic disorder of males who have an extra sex chromosome (XXY) and subsequently are usually infertile, have small testes, and have enlarged breasts at the time of puberty (gynecomastia). Males with this syndrome have an increased risk of various autoimmune disorders such as diabetes mellitus and lupus.
Turner syndrome is a condition of females who, in the classic form, carry only a single X chromosome (XO). Characteristically, such persons are short, do not menstruate, and have a deficiency of estrogen (a female sex hormone); there is a distinctive cluster of congenital anomalies attached to this syndrome.
Testicular feminization, or androgen insensitivity syndrome, is caused by genetic mutations on the X chromosome that cause a male to be resistant to the action of androgens (male hormones). Affected persons seem to be normally developed females but have a chromosomal sex that is that of the normal male. The gonads are well-developed testes, and evidence indicates that there is a normal production of testosterone (male hormone), but there is cellular resistance to the action of this hormone, and therefore the affected person becomes female in appearance. Because these gonads are apt to form malignant tumours, they are usually removed surgically. Female sexual characteristics are then maintained by the administration of estrogenic hormones.
C. FUNCTIONAL GENITAL DISORDER
1. Affecting both male and female systems
Delayed puberty: The term delayed puberty may be a misnomer, because puberty delayed beyond age 19 is in fact a permanent failure of sexual development because of an abnormally low secretion by the pituitary gland of gonadotropic hormone, the hormone that stimulates growth and activity of the sex glands; this condition is called hypogonadotropic eunuchoidism. The term delayed puberty is usually applied to boys who develop more slowly than the average but who still eventually undergo full sexual development. Only in retrospect—i.e., after the affected person reaches the age of 20—can one clearly differentiate these cases from the classic or incomplete forms of hypogonadotropic eunuchoidism. If there are social and psychological problems related to the sexual underdevelopment, therapy may consist of a course of chorionic gonadotropin, a hormone produced by the placenta and secured from the urine of pregnant women. If puberty is merely delayed, it will usually progress normally after this treatment. If it fails to progress, the person does not have delayed puberty but rather has hypogonadotropic eunuchoidism.
Precocious puberty: In healthy girls living in a temperate climate, the earliest sign of puberty (the beginning of breast and pubic-hair growth) has traditionally been considered to occur at a mean age of 10.6 years (standard deviation of 1.2 years). In boys, testicular growth is considered to begin at a mean age of 11.8, with a standard deviation of one year. True precocious puberty is a condition in which normal pituitary-gonadal function is activated at an abnormally early age. "Abnormally early" has traditionally been defined as younger than 9 years in boys and younger than 8 years in girls, though studies undertaken since the 1990s indicate that the normal onset of puberty may be occurring at a younger age in girls in developed countries and that therefore the age of precocious puberty for girls may actually be as low as 6 or 7. Pseudoprecocious puberty includes development of secondary sexual characteristics but not production of spermatozoa or ova; it may involve virilization in the female or feminization in the male.
The causes of true precocious puberty include brain lesions and hypothyroidism (abnormally low secretion by the thyroid glands); the largest proportion of cases are of unknown cause. Precocious pseudopuberty in females may be caused by ovarian tumours or cysts, a tumour of the adrenal cortex (outer substance of the adrenal gland), or congenital overdevelopment of the adrenal gland. In males the causes include congenital overdevelopment of the adrenal glands, tumour of the adrenal cortex, tumour involving the Leydig cells of the testes, and teratoma (a tumour containing numerous types of tissue; in these circumstances it includes adrenal-cortical tissue).
Infertility: At least 10 percent of couples experience infertility, and deficiencies of sperm production in the male are the causal factor in about one-third of all cases. The common causes of male infertility are deficiencies in maturation of sperm; orchitis (acute inflammation of the testes often resulting from mumps), with destruction of the testes; obstruction of the passageways for sperm; abnormally low thyroid or high adrenal secretion; varicocele (enlargement of the veins of the spermatic cord); or formation of antibodies to sperm by the male or the female. The most important step in the evaluation of male infertility is examination of the semen.
Infertility in the female is related to the faulty production of ova or to interferences in their union with spermatozoa. Disordered ovulation is responsible for approximately 25 percent of female infertility problems; anovulation (failure to ovulate) and oligoovulation (very irregular ovulatory cycles) are among the most common disorders. Other common causes of infertility are blockages and scarring of the fallopian tubes, which can result from infections of the reproductive tract (e.g., pelvic inflammatory disease), uterine fibroids, or endometriosis.(The sperm normally enter the uterus through the cervix and, from the uterus, move into a fallopian tube, where fertilization of an ovum takes place.) During the few days prior to ovulation—release of an ovum from the ovary—the glands within the cervix normally secrete a thin, watery mucus that is beneficial to sperm survival and migration. Various factors, such as infection or estrogen deficiency, may decrease the quality of the mucus. Congenital anomalies of the reproductive organs may also cause infertility. Vaginal causes are usually uncommon, but obstruction may be due to an unruptured hymen or may be functional and arise from enlargement and contraction of the levator ani muscles (these muscles form a supporting sheet under the pelvic cavity, with openings for structures such as the anus and the vagina). Thyroid, pituitary, adrenal, or ovarian disease may interfere with ovulation, as may the presence of large numbers of cysts in the ovaries (the condition known as Stein-Leventhal syndrome). Finally, emotional factors may play a role in causing infertility.
Treatment consists of the use of various hormones, surgical correction of tubal blockage, and psychotherapy.
2. Affecting the female system
Abnormalities of menstrual function include painful menstruation, or dysmenorrhea; excessive blood loss during each menstrual cycle, known as menorrhagia; irregular bleeding, or metrorrhagia; absence of menstruation, called amenorrhea; and dysfunctional uterine bleeding. In addition, many women experience premenstrual syndrome, a group of physical and emotional symptoms that occur before the onset of each cycle. A few women have transient abdominal discomfort at the time of ovulation because of slight bleeding from the follicle into the peritoneal cavity; oral contraceptives will remedy the condition by suppression of ovulation, or the discomfort can be treated with pain medications such as ibuprofen or naproxen.
Dysmenorrhea: Dysmenorrhea is painful cramps felt before or during menstruation; the pain is sometimes so severe as to interfere with daily activities. Pain is adequately controlled with drugs that block prostaglandin formation.
Secondary dysmenorrhea results from pelvic disease such as inflammation of the tubes and ovaries, or from endometriosis. In endometriosis, deposits of endometrium, which undergo cyclic response to the ovarian hormones, are found in the ovaries and in other sites outside of their normal location; these deposits form blood-filled cysts, and pain and excessive bleeding result. In painful menstruation secondary to pelvic disease there is, before menstruation, pain associated with a feeling of congestion, and the menstrual bleeding is often excessive. Treatment is directed toward the underlying disorder.
Menorrhagia: Excessive menstrual bleeding, or menorrhagia, may be due to an imbalance of the thyroid or adrenal hormones, but it may also be the result of local disease of the pelvic organs. This local disease may be inflammation due to infection; it may be a benign tumour such as a fibroid; it may be a polyp, or projecting mass of endometrium; or it may be a cancer, especially after age 35. Some types of local pelvic disease may require removal of the uterus (hysterectomy) or treatment by chemotherapy or radiation, but polyps and some fibroids can be removed without loss of the uterus.
As the menopause approaches, extremely heavy bleeding may occur, causing anemia, tiredness, and ill health. Menorrhagia in this instance is due to overdevelopment of the endometrium as a result of excessive or unbalanced action of estrogens. Younger or childless women can be treated with progestogens; for others removal of the uterus may be necessary.
Metrorrhagia: Bleeding between menstrual periods, after intercourse, and at or after menopause is frequently due to some abnormality of the cervix; the possibility of cancer must be borne in mind. Such bleeding may also come from a polyp on the cervix or a cervical erosion. Treatment is often unnecessary, but erosions are easily treated by cauterization. Polyps require removal.
Irregular bleeding also may occur during pregnancy when there is danger of miscarriage; if any menstrual periods have been missed, this possibility must be considered.
Amenorrhea: Amenorrhea, or absence of menstruation, is normal during pregnancy and for a variable time after delivery. If the mother is breast-feeding her baby, as much as six months may pass before return of menstruation; earlier return of menstruation is not abnormal and is to be expected if the mother is not producing milk. Pregnancy is the most common cause of amenorrhea during the reproductive years.
Primary amenorrhea is the absence of menstruation in a woman who has never previously menstruated. In rare cases, primary amenorrhea is due to gonadal dysgenesis, the failure of the ovaries to develop normally, and may be associated with chromosomal abnormalities. Instead of the normal female complement of 46 chromosomes in each cell, including two X chromosomes, a patient may have only one X chromosome (Turner syndrome) or even a male pattern of an X and a Y chromosome (Swyer syndrome). In such persons the uterus and fallopian tubes often are absent, although the general physique may be female. Even with normal ovaries, absence of the uterus occasionally occurs. A less rare abnormality is vaginal atresia, or closure, an obstruction of the vagina by a membrane just above the level of the hymen; menstruation occurs, but the discharge cannot escape and distends the vagina. This condition, called false amenorrhea or cryptomenorrhea, is easily corrected by an incision in the membrane.
Cessation of periods after menstruation has been established but before the normal time for the menopause is usually the result of some general illness, emotional stress, or mental disorder. It may also be due to disease of the endocrine system, not only of the pituitary gland but of other endocrine glands as well. Secondary amenorrhea results if the ovaries are removed or are irradiated but is unlikely to be caused by ovarian disease, as both ovaries would have to be damaged to stop all function. Stein-Leventhal syndrome is a functional disorder of the ovaries in which production of estrogens is disturbed. Symptoms of this disorder include abnormal growth of facial hair because of abnormal androgenic—that is, masculinizing—activity. An ovarian tumour that secretes androgenic hormone, also called an arrhenoblastoma, is another extremely rare cause of amenorrhea and abnormal growth of hair. Most cases of secondary amenorrhea are temporary, and spontaneous improvement is to be expected, especially when the cause is some general illness or emotional stress. The feasibility of treatment with hormones is determined by a general medical examination and a complete pelvic examination.
Dysfunctional uterine bleeding: Dysfunctional, or anovulatory, uterine bleeding occurs most often in women during early adolescence and immediately before menopause begins. It is thought to be caused by imperfect ovarian functioning. Estrogens are produced in a cycle in amounts sufficient to cause endometrial proliferation, but ovulation does not occur. The endometrium breaks down and bleeds in each cycle as the estrogens are withdrawn. Cycles of this type occur in women who are using oral contraceptives. Dysfunctional bleeding can also be associated with obesity, excessive exercise, or emotional stress.
3. Affecting the male system
Impotence: Impotence is inability of the male to have satisfactory sexual intercourse and varies in form from the inability to gain an erection to weak erections, premature ejaculation, or loss of normal sensation with ejaculation. It may be caused by subnormal functioning of the testes, by arteriosclerosis (hardening of the arteries), by diabetes, by psychological factors, or by a disease of the nervous system. Certain medications prescribed for the treatment of such diseases as peptic ulcer, hypertension, or psychiatric illness may adversely affect sexual ability. Therapy includes drug therapy (PDE-5 inhibitors such as Viagra), administration of hormones, or psychotherapy.
Priapism: Priapism is prolonged penile erection that is painful and unassociated with sexual stimulation. The blood in the spaces of the corpora cavernosa becomes sludgelike and may remain for hours or even days. About 25 percent of the cases are associated with leukemia, sickle cell anemia, metastatic carcinoma (cancerous development at a distance from the primary site), or diseases of the nervous system, but in the majority of cases the causation is not clear. There have been many forms of treatment, but drug therapy is effective in most cases. Regardless of treatment, impotence is common after an episode of priapism and even more common after repeated episodes of priapism.
D. SEXUALLY TRANSMITTED DISEASES
Sexually transmitted diseases (STDs), also called venereal diseases, are usually contracted during sexual intercourse with an infected partner. The principal disorders commonly transmitted in this manner include AIDS, syphilis, gonorrhea, chlamydia, and genital herpes.
Syphilis: Syphilis is caused by the bacterial spirochete Treponema pallidum. Although known in Europe since the 15th century, syphilis was not recognized as a sexually transmitted disease until some 200 years ago. It first appears as a painless sore, called a chancre, on the skin or mucous membranes of the genitals two to four weeks after unprotected sexual contact with an infected partner, although the initial symptoms may appear in other areas in unusual cases. The infection induces antibodies against T. pallidum that can be identified in the bloodstream by various tests some weeks after the initial infection. If untreated, the chancre disappears, and the person develops a rash on the genitals (secondary syphilis). Subsurface nodules, called gumma, appear in the tertiary stage of the disease. The organism invades the nervous system at an early stage, but neurologic symptoms, including behavioral aberrations, often do not occur until the infection has been present for several years. Antibiotics, usually penicillin, are used to treat all stages of syphilis but are most effective during the primary stage; antibiotics can also prevent transmission of the infection from a pregnant woman to her fetus, which could result in miscarriage or severe congenital defects.
Gonorrhea: Gonorrhea is caused by Neisseria gonorrhoeae, a type of bacteria with an extremely short incubation period, making it difficult to interrupt the chain of transmission. Infection, almost invariably due to unprotected sexual intercourse with an infected partner, can be prevented by the use of a condom. The chief symptom of gonorrhea in the male is pain or burning during urination, although there also may be a discharge from the penis. Some 50 percent of infected females are asymptomatic; in symptomatic cases the signs of infection are similar to those seen in the male. Gonorrhea spreads locally along mucosal surfaces, ascending the urethra in the male and either the vagina or the urethra in the female. The bacteria may also be disseminated through the blood to more-distant sites; systemic manifestations include headache and, if untreated, arthritis or heart disease.
Nongonococcal urethritis: Although nongonococcal urethritis (NGU) is caused by a variety of microorganisms, it is most commonly attributed to Chlamydia species, which also cause lymphogranuloma venereum (see below). In about half the cases, an infectious transmission is strongly implicated. The symptoms are chiefly pain and burning on urination but are generally milder than those of gonorrhea. Treatment is with antibiotics.
Genital herpes: Genital herpes is caused by two types of herpes simplex virus: type 1 (HSV-1; the cause of cold sores of the lips and mouth) and type 2 (HSV-2). The disease first appears as groups of small blisters on the surface of the penis in men and the vulva in women. The initial infection clears spontaneously within two to three weeks, but herpes commonly recurs with varying frequency thereafter, burning or itching at the infection site containing the lesions. Herpes is generally transmitted only when an active lesion is present; it can be prevented by avoidance of intercourse during the active phase. The risk of transmission is diminished by the use of a condom. Active herpes can be fatal to infants during delivery; in a large percentage of cases, it causes blindness or brain damage in newborns. In women, genital herpes has also been associated with cervical cancer. Antiviral treatment early in the course of the disease may decrease the duration of symptoms.
Another common herpesvirus, cytomegalovirus (CMV), is associated with high mortality in persons with weakened immune systems.
Chanroid: Chancroid, also called soft sore, is caused by the microorganism Haemophilus ducreyi and occurs chiefly in developing countries. The bacteria has a short incubation period, producing small red pustules generally within fewer than five days after exposure; the pustules burst to form painful ulcers, and the disease can be diagnosed by culturing bacteria from these ulcers. Unlike syphilis, which it may resemble, chancroid is a purely localized disease of the genitals. Treatment is with antibiotics.
Lymphogranuloma venereum: infection of lymph vessels and lymph nodes by the microorganism Chlamydia trachomatis. Like chlamydia, which is also a disease caused by C. trachomatis, lymphogranuloma venereum is usually sexually transmitted. The disease produces swollen lymph nodes, ulcerations, enlargement of genital organs, and rectal stricture. Lymphogranuloma venereum occurs throughout most of the world, especially in tropical and subtropical areas.
The primary lesion, usually on the genitalia, appears from 3 to 21 days after infection. The lesion is often so transitory as to escape notice, and the first noticeable manifestation of the disease may be a hot, tender swelling of lymph nodes (buboes) in the groin, appearing from 10 to 30 days after exposure. Fever, chills, headache, and joint pains may be present. Abscess formation with drainage of pus from the inguinal lymph nodes is common. Later manifestations of the disease include secondary ulceration and elephantiasis (enlargement) of the genitalia in men, polyps around the anus, inflammation, ulceration, and stricture of the rectum, and, in rare cases, arthritis, conjunctivitis, and nervous system involvement. The course of the disease varies from asymptomatic infection to extreme debilitation. Treatment is with broad-spectrum antibiotics.
Geniatal warts: Genital warts, also called condyloma acuminata, are caused by human papillomavirus, which is related to the virus that produces common warts. The wart begins as a pinhead-sized swelling that enlarges and becomes pedunculated; the mature wart is often composed of many smaller swellings and may resemble the genital lesions of secondary syphilis.
Granuloma inguinale: Granuloma inguinale is caused by infection with Calymmatobacterium granulomatis and occurs primarily in tropical and subtropical climates, including the southern United States. Initial symptoms are painless papules that become ulcerated, ultimately forming granulomatous masses that tend to bleed easily. These lesions occur on the genitals, thighs, and groin of infected persons and may resemble syphilis lesions. Cancer has also been associated with granuloma inguinale. Treatment is with antibiotics.
Candidiasis: It is an infectious disease produced by the yeastlike fungus Candida albicans and closely related species. A common inhabitant of the mouth, vagina, and intestinal tract, Candida ordinarily causes no ill effects, except among infants and in persons debilitated by illness such as diabetes. There is evidence that prolonged treatment with broad-spectrum antibiotics, such as chloramphenicol and the tetracyclines, may predispose to the development of candidiasis, perhaps by killing off normal microbial antagonists to the fungus.
Candidiasis of the mucous membranes of the mouth is known as thrush and is a common fungus infection; it is usually localized and mild but may spread into a generalized cutaneous eruption. Thrush most often occurs in bottle-fed babies and in persons with terminal illness. Candidiasis of the mucous membranes of the vagina is called vaginitis; it is most common in diabetic or pregnant women.
Candidiasis of the skin is most likely to occur in the folds, especially in moist areas such as the armpits, between the buttocks, and in the navel. The folds between the fingers and around the nails are often affected in persons whose hands are frequently wet. Perlèche is a Candida infection occurring at the corners of the mouth.
Occasionally the fungus invades the respiratory system, producing a bronchopulmonary infection that simulates miliary tuberculosis. The infection rarely becomes systemic, but when it does so it may damage the lining of the heart or the meninges.
Some forms of candidiasis are easily treatable; others are more refractory. Iodide and gentian violet have endured as therapeutic agents, while nystatin, an antifungal antibiotic, has shown some efficacy.
Trichomoniasis: Infection with the flagellate protozoan Trichomonas vaginalis is usually, but not exclusively, spread by sexual contact. The condition is commonly asymptomatic in males. In females trichomoniasis has a variety of manifestations, including vaginal discharge, irritation of the genitals, and pain during intercourse or urination. Both sexes may experience complications, such as cystitis and urethritis; males may also develop prostatitis and epididymitis. Treatment with metronidazole, an antibacterial and antiprotozoal agent, is standard.
E. TUMORS OF REPRODUCTIVE SYSTEM
In the male
Tumors of external genitalia: Tumours of the penis are almost all of epithelial (covering or lining) origin and usually involve the foreskin (prepuce) or glans. Penile cancer is rarely found in men who have been circumcised during infancy. The growth arises on the glans or inner surfaces of the prepuce, and metastases (secondary growths at distant parts of the body) occur through lymph vessels that travel from the inguinal (groin) and iliac nodes (nodes along the aorta and iliac arteries). The diagnosis is made by examination of a biopsy of the lesion. Treatment for small lesions consists of surgical removal of a part of the penis, chemotherapy, or radiation, while spread to inguinal nodes may be treated by removal of the node. The prognosis is good if the tumour is small and there has been no metastasis.
Tumours of the scrotal skin are rare; most are thought to arise from occupational exposure to various carcinogens (cancer-causing substances), such as coal soot. Primary tumours of the epididymis are also uncommon, and most are benign.
Testicular cancer: Testicular tumours are usually malignant; the peak incidence is between the ages of 15 and 35 years. This type of cancer accounts for about 1 percent of all malignant growths in men. The great majority of testicular tumours (greater than 90 percent) are of types that do not reproduce cells resembling those of the tissue of origin. The major route of metastases for these types of tumours is via the lymphatic system. The lymph nodes in the groin and the mediastinum—the region between the lungs—are most commonly involved, but the lungs and liver are also frequent sites of tumour spread. The remaining 10 percent of the testicular tumours, which usually resemble the cells from which they arise, include the hormone-secreting tumours. In general, these tumours have been described in all age groups, are usually benign, and frequently arise in individuals with poorly developed or undescended testes (see cryptorchidism).
The most common symptom first observed in all groups is painless enlargement of the testis. If, after careful examination, biopsy, or ultrasound, a tumour cannot be ruled out, the testicle may be removed for microscopic examination. Further treatment may consist of radiation or chemotherapy.
Prostate cancer: Prostate cancer is rare before the age of 50 but increases in frequency every decade thereafter. It is the third most common cancer in males, second only to lung and stomach cancer. Like most tumours, prostate cancer has various causes, but it is thought to be influenced by the male sex hormone androgen. The progress of the cancer is so slow that, by the time it produces symptoms of urinary obstruction or sexual dysfunction, metastasis has occurred in many cases, most frequently to the spine, the pelvic bones, or the upper portions of the thighbones. The diagnosis is made by rectal examination or transrectal ultrasound (TRUS). Tests that detect elevated levels of prostate-specific antigen (PSA) in the blood are also used to detect tumours of the prostate. If preliminary tests suggest prostate cancer, a biopsy is performed to confirm the diagnosis. If the tumour is discovered before it has extended beyond the prostate, the gland may be surgically removed. If spread has occurred, treatment may include radiation, hormone therapy, chemotherapy, or a combination of these approaches.
In the female
Vulvar cancer: Primary carcinoma of the vulva (the external female genital organs) usually occurs in women over 50 and usually arises from the labia majora or labia minora. Most patients first notice a lump on the vulva or perineum; the diagnosis is made by examination of a specimen of tissues. Treatment consists of radiation, chemotherapy, or surgery.
Cervical cancer:
Introduction
Disease is characterized by the abnormal growth of cells in the cervix, the region of the uterus that joins the vagina. Cervical cancer was once a common cause of cancer deaths in women, but fatalities have been greatly reduced since the development of the Pap smear in the 1940s. Cervical cancer is still fairly common; in some developing countries it occurs more often than breast cancer and is the most common form of cancer among women in these countries.
Causes and symptoms
The causes of cervical cancer vary, but most cases are caused by complications associated with human papillomavirus (HPV) infection, a sexually transmitted disease that inhibits the ability of cervical cells to suppress tumours. Other risk factors include smoking, low socioeconomic status, and infection with the human immunodeficiency virus (HIV), the virus that causes AIDS.
The Pap test diagnoses most cervical cancers at an early, noninvasive stage. Gone undetected, however, the cancer may eventually cause vaginal bleeding or other discharge, pelvic pain, or pain during intercourse.
Diagnosis and prognosis
Initial diagnosis often begins with a positive Pap test, which is followed by a more comprehensive examination to confirm the presence of cervical cancer. A biopsy is then performed either by cone biopsy, in which a cone-shaped region of cells is removed, or colposcopy, in which the cervix is viewed directly and cells are scraped from the lining. If the cancer is at an advanced stage and metastasis (spreading of the cancer) is suspected, other cancers of the uterus and surrounding tissues can be detected by observing the reproductive, digestive, and urinary tracts with other specialized viewing scopes.
Once cervical cancer has been diagnosed, its stage is then determined. The stage is an indicator of how far the cancer has progressed. Stage 0 cervical cancer is also called carcinoma in situ and is confined to the epithelial cells that line the cervix. Stage I cancers have spread into the connective tissue that underlies the epithelium, whereas stage II cancers have spread beyond the cervix to the upper portion of the vagina or to nearby tissues within the pelvic area. Stage III cancers have spread to the lower portion of the vagina or to the wall of the pelvis. Stage IV cancers have spread to distant organs such as the lungs, bladder, or bone.
The five-year survival rate for cervical cancer is quite high when the cancer is diagnosed in its early, preinvasive state. Many cervical cancers are detected at this point, and nearly all of these patients can be completely cured. Even invasive cancers, when detected early, have a very high five-year survival rate. Once the cancer has spread outside the uterus, however, survival rates are considerably lower.
Treatment
Surgery is an effective treatment for most cervical cancers. Usually, noninvasive cancers can be easily removed with a scalpel or laser during outpatient surgery. Another option is to destroy the cancer by freezing it. If the cancer has spread locally within the tissue, one of two types of hysterectomy may be required. A simple hysterectomy that removes the uterus and cervix will suffice in some cases, whereas in others a radical hysterectomy is necessary to remove the underlying connective tissue (parametrium) and ligaments along with the upper portion of the vagina. If warranted, either of these surgeries may be done in conjunction with removal of the fallopian tubes and ovaries. Surgical removal of the uterus or ovaries results in infertility, and removal of the ovaries causes women immediately to go into menopause. Lymph nodes may also be removed during surgery.
Radiation therapy may also be used in the treatment of cervical cancer, often in conjunction with surgery if the cancer is invasive and has spread beyond the surface of the cervix. External beam radiation resembles traditional X-rays in that the radiation is directed from outside the body toward an internal target tissue. Brachytherapy, on the other hand, uses implanted radioactive rods or pellets to focus the radiation on the cancer and greatly reduce side effects. In addition to the side effects normally associated with radiation treatment, pelvic radiation therapy may also cause premature menopause, bladder irritation, or a narrowing of the vagina due to scar tissue buildup.
Chemotherapy is generally used when cervical cancer has spread beyond the uterus. Once a cancer has spread, general or systemic approaches such as chemotherapy are required to seek out and destroy as many cancerous cells as possible.
Prevention
Most cervical cancers can be prevented by avoiding risk factors and by getting regular Pap tests. The major risk factor for cervical cancer is human papillomavirus infection, which can be reduced or prevented by avoiding sexual contact with individuals who have had multiple sexual partners. In 2006 a vaccine effective against four different types of HPV, including the two strains known to cause most cases of cervical cancer, was approved for use in females between ages 9 and 26. The vaccine is effective only in people who have had no previous infection with HPV. Condoms are not highly effective at preventing HPV infection. Visible genital warts should be treated immediately to reduce their likelihood of developing into cervical cancer.
Some medical societies recommend an annual Pap test plus pelvic exam for all women once they have reached 18 years of age or become sexually active, whichever is earlier. At the advice of a physician, the frequency of Pap tests may be reduced if multiple tests prove negative.
Uterine and ovarian cancer: Cancer of the lining of the uterus (endometrium) is the most common cancer of the female genital tract. The risk factors of uterine cancer stem from an imbalance in which the levels of the hormone estrogen in the uterus are regularly higher than the levels of progesterone. The peak incidence is in the mid-50s, and there is also a strikingly high incidence in women who have not borne children. The chief symptom of the cancer is postmenopausal uterine bleeding or discharge. An examination of a specimen of endometrial tissue must be performed in order to diagnose uterine cancer. The treatment is primarily surgical but is often supplemented with chemotherapy, radiation, or hormone therapy. The survival rate from this disease is relatively good if the tumour is confined to the uterine body.
The treatment of ovarian cancer consists of surgery, radiation, chemotherapy, or a combination of these approaches. The prognosis is variable and depends on the type of tumour as well as the extent of metastasis.