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Top100 Diseases

 reproductive diseases

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Pregnancy is obviously not a disease and is a huge topic in its own right, with much-associated pathology. It is included here as a reminder of the most important pregnancy-related issues that students should understand.

What to learn
  • An overview of the developmental changes in the fetus through pregnancy and the physiological adaptations in the mother.
  • The stages of pregnancy and labor.
  • Complications of pregnancy and parturition - from early pregnancy (ectopic pregnancy and miscarriage), late pregnancy (abruption; placenta previa; preeclampsia; Hemolysis, Elevated Liver transaminases, and Low platelets [HELLP]; gestational diabetes; cholestasis) to those of labor and beyond (premature labor; instrumental and caesarean delivery; postpartum hemorrhage).
  • Drugs to be avoided during pregnancy and breastfeeding.

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This is defined as the inability of a couple to conceive after 1 year of intercourse without the use of contraception. Infertility is a common problem and a cause of great distress. In 30% to 40% of couples there is an identifiable male factor, and in 40%, a female tubal or ovarian cause exists; 15% of cases are idiopathic with no identifiable cause.

What to learn
  • Male and female causes of subfertility.
  • Investigations required to investigate subfertility: sperm count, laparoscopy, and dye studies.
  • Techniques for assisted conception: hormonal, in vitro fertilization (IVF) and Intracytoplasmic Sperm Injection (ICSI).
  • Risks associated with fertility treatment.

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The aim of contraception is to prevent unplanned pregnancies. The ideal contraceptive is effective, acceptable, safe, and reversible. Contraception is a large and complex topic that is extremely important in primary care.

What to learn
  • The major classes of contraceptives and the mechanisms by which they operate.
  • Hormonal contraception: indications, contraindications and side-effects of the combined pill, the progestogen-only pill, depot injections, implants, and emergency ”morning-after” pills.
  • Nonhormonal contraception: indications and contraindications of the assisted rhythm method (using temperature or hormone testing kits), barriers (condom and diaphragm), intrauterine devices.
  • Sterilization.

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Abnormal menstruation
Disorders of menstruation fall into three categories: amenorrhea, dysmenorrhea (painful periods), and dysfunctional uterine bleeding.

What to learn
  • Refresh your memory of the hormonal control of the menstrual cycle and the physiological changes that occur.
  • Causes of primary and secondary amenorrhea, and the investigations indicated for each.
  • Causes and management of dysmenorrhea - often primary with no other abnormality found; sometimes secondary to endometriosis, adenomyosis, infection, or uterine polyps.
  • Causes of dysfunctional uterine bleeding, and management.

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Endometriosis is a very common gynecological disorder that occurs in 12% of women, although not all have symptoms. It is caused by ectopic deposits of endometrial cells in the lower part of the peritoneal cavity.

What to learn
  • Etiology and epidemiology of endometriosis.
  • Sites at which endometriotic deposits are most likely.
  • Symptoms and signs of endometriosis, and methods of diagnosis.
  • Hormonal and surgical management.

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The menopause and hormone replacement therapy (HRT)
The menopause, or cessation of periods, occurs naturally between the ages of 45 and 55 years, with the mean age of onset currently 49 years in the UK. Most women notice irregular scanty periods for a variable period before symptoms of estrogen deficiency begin.

What to learn
  • Hormonal changes that occur in the menopause
  • Signs and symptoms of the menopause
  • Long-term risks involved in early menopause
  • HRT - methods available, risks and benefits

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Breast cancer
This comprises 20% of all cancers in women and is the most common cause of death in the 35 to 55-year age group. Incidence is higher in the West than in developing countries.

What to learn
  • Etiology and predisposing factors for breast cancer.
  • Classification of neoplastic breast disease: ductal and lobular carcinoma; staging and grading of breast cancer.
  • Symptoms, signs, and diagnostic tests.
  • Treatment and prognosis.
  • Screening for breast cancer.

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Cervical cancer
The vast majority of cervical carcinomas are squamous cell in origin. Incidence is 3800 new cases per year in England and Wales; mortality is 1000 per year. It occurs from the teens onward, but the average age of onset is 50 years. It is preceded by the preinvasive phase of cervical intraepithelial neoplasia (CIN).

What to learn
  • Etiology and risk factors for CIN.
  • Classification and progression of CIN.
  • Cervical screening.
  • Clinical features and diagnosis of cervical cancer.
  • Treatment and prognosis.

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Ovarian cancer
This is responsible for more deaths than any other gynecological malignancy -- over 4000 per year in the UK -- because it is usually advanced on presentation. Primary ovarian cancers account for 5% of malignancies in women. Seventy percent are surface epithelial tumors; 20% are germ-cell in origin, and the remaining 10% are sex-cord and stromal tumors.

What to learn
  • Classification of ovarian tumor types and clinical features.
  • Symptoms, signs, and diagnostic tests for ovarian carcinoma.
  • Treatment of ovarian cancer.

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This is the inability of the male to achieve or sustain an erection adequate for satisfactory intercourse. It is a common problem, but many patients have no definable organic cause. True erectile difficulty can be psychological, vascular, or endocrine or drug related.

What to learn
  • Causes of impotence.
  • Medical and psychological methods of managing impotence.

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Testicular cancer
Tumors of the testis are uncommon, affecting 1% to 2% of men, but are important because of their early age of onset and good response to chemotherapy. Ninety-seven percent of cases are germ-cell tumors (seminomas or teratomas), and the rest are derived from the support cells of the testis (Leydig- and Sertoli-cell tumors, lymphoma) and metastatic deposits.

What to learn
  • Symptoms and signs of testicular cancer.
  • Classification of testicular tumor types and clinical features.
  • Treatment and prognosis.

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Menopause and hormone replacement therapy (HRT)
The menopause, or cessation of periods, occurs naturally between the ages of 45 and 55 years, with the mean age of onset currently 51 years in the UK. Most women notice irregular scanty periods for a variable period before symptoms of estrogen deficiency begin.

What to learn
  • Signs and symptoms of the menopause.
  • Hormonal changes that occur in the menopause.
  • Long-term risks involved in early menopause.
  • HRT: methods available, risks, and benefits.

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