The Challenge In many ways, prenatal care is the prototypical example of preventive medicine. Preconceptional care is directed toward ensuring the optimal health of the prospective mother and doing those things that will remove preventable impediments to a healthy outcome for the pregnancy. The care these women receive during this and the prenatal phase of their lives is critical to both their health and the success…

Introduction Description: Virilization refers to the loss of female sexual characteristics such as body contour and the acquisition of masculine qualities such as increased muscle mass, temporal balding, deepening of the voice, and clitoromegaly. Prevalence: Uncommon. Predominant Age: Reproductive age. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: Idiopathic ovarian (polycystic ovary syndrome, hilus cell hyperplasia/tumor, arrhenoblastoma, adrenal rest), adrenal (congenital adrenal hyperplasia [10%–15% of women…

Introduction Description: Vaginal agenesis is the congenital absence of the vagina, most often associated with an absence of the uterus (Mayer–Rokitansky–Küster–Hauser [MRKH] syndrome). Of these women, 7%–10% have functional endometrium within a uterus that is obstructed, a rudimentary uterine horn, or cavitated Müllerian remnants. Prevalence: Reported to vary from 1/4000 to 1/10,500 female births. Predominant Age: Generally not diagnosed until puberty, often following a delay of…

Introduction Description: Uterine agenesis is the failure of the Müllerian system to fuse in the midline to form the uterus. Incomplete variations of this failure result in a didelphic, bicornuate, septate, or arcuate uterus. It is also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKH). Prevalence: 1/4000–5000 female births. Second most common (15%) cause of primary amenorrhea but only 3% of uterine anomalies. Predominant Age: Congenital. Diagnosed when the…

Introduction Description: Caused as a result of the absence of one X chromosome, Turner syndrome (described in 1938 by Oklahoma physician Henry H. Turner) is a collection of stigmata that includes edema of the hands and feet, webbing of the neck, short stature, left-sided heart or aortic anomalies, and gonadal dysgenesis, resulting in primary amenorrhea and infertility. These patients have normal mental abilities but may have…

Introduction Description: Sheehan syndrome (named for Harold Leeming Sheehan, who characterized the syndrome ) is characterized by the loss of pituitary function, resulting from damage or necrosis that occurs through anoxia, thrombosis, or hemorrhage. When associated with pregnancy, it is called Sheehan syndrome; when unrelated to pregnancy, it is called Simmonds disease. Prevalence: Rare; less than 1/10,000 deliveries. Predominant Age: Reproductive age. Genetics: No genetic pattern.…

Introduction Description: Structural abnormalities present at birth may make the assigning of an appropriate sex of rearing (gender) difficult or impossible (sexual ambiguity). The evaluation of these infants represents both a social and medical emergency because causative life-threatening conditions may be present. Prevalence: Less than 1/2000 births. Predominant Age: Present at birth. Genetics: Some enzymatic defects may be inheritable. A history of a previously affected relative…

Introduction Description: When a woman has had two consecutive or three total first-trimester spontaneous pregnancy losses, it is considered recurrent abortion. Prevalence: 0.4%–1% of women meet the criteria for recurrence, although 15% of clinically recognized pregnancies have sporadic loss (20%–60% before 6 weeks gestation). Predominant Age: Reproductive age. Genetics: No genetic pattern. Etiology and Pathogenesis Causes: When the losses occur early in gestation, there is a…

Introduction Description: Polycystic ovary syndrome (PCOS) consists of amenorrhea, hirsutism, insulin resistance, and obesity in association with enlarged, multicystic ovaries. Prevalence: 5%–10% of women; 30% of secondary amenorrhea. The most common hormonal disorder among women of reproductive age. Predominant Age: Begins at menarche. Genetics: No genetic pattern established; suggestion of increased family tendency. Etiology and Pathogenesis Causes: The exact pathophysiology of PCOS is not well established,…

The Challenge The challenge is to evaluate patients who experience the normal events of puberty earlier than expected and to provide reassurance with appropriate or timely diagnosis and intervention when more sinister processes are at work. Precocious puberty is estimated to affect approximately 20/10,000 girls. Scope of the Problem: For all patients with precocious puberty (pubertal changes before the age of 7 years or cyclic menstruation…

Introduction Description: Menopause is an endocrinopathy that is caused by the loss of normal ovarian steroidogenesis because of age, chemotherapy, radiation, or surgical therapy. An endocrinopathy is the loss of an endocrine function with adverse health consequences. For most women, menopause is defined as the permanent cessation of menstrual periods determined after 12 months of otherwise unexplained amenorrhea. Prevalence: Virtually all women older than 60 years,…

Introduction Description: Infertility is the inability to conceive or bear a child despite more than 1 year of trying (or after 6 months for women older than 30 years old). Under ordinary circumstances, 80%–90% of normal couples conceive during 1 year of attempting pregnancy. Infertility may be further subdivided into primary and secondary types based on the patient’s reproductive history: patients who are infertile and nulligravid…

Introduction Description: Hyperprolactinemia is the pathologic elevation of serum prolactin levels. The finding of elevated levels of prolactin is nonspecific with respect to the cause, thereby requiring careful clinical evaluation. Prevalence: Uncommon; reports vary from 1% to 30%, depending on the population studied. Predominant Age: Reproductive age. Genetics: No genetic pattern. A germline loss-of-function mutation in the prolactin receptor gene ( PRLR ) has been reported.…

Introduction Description: Hirsutism refers to increased or excessive hair growth only. It may be idiopathic (hypertrichosis) or caused by androgen-stimulated excessive growth. Hypertrichosis involves increased hair on the extremities and tends to be ethnic, racial, or familial in origin. This is not considered hirsutism. Prevalence: 5%–10% of women; variable within ethnic groups; 60% of women with Cushing’s disease. Predominant Age: After puberty. Genetics: Influenced by the…

The Challenge Description: Genetic mutations, especially those that impair the cell’s DNA repair functions, can result in errors of cell growth and differentiation going unchecked. This propensity to malignant transformation may result in an increased risk of developing frank cancer. Not all mutations in these genes are associated with an increased cancer risk, but a number have been firmly connected with syndromes of malignancy that are…

Introduction Description: Gonadal dysgenesis is a developmental abnormality of patients who do not carry the stigmata of Turner syndrome but still have absent menarche because of chromosomal abnormalities. These patients generally are tall (>150 cm), are more normal in appearance, and are a chromosomally heterogeneous group (46,XX, 46,XY, or mosaic X/XY karyotypes). Prevalence: Appears in 1/2500 female births. Most common sex chromosome abnormality in females. Predominant…

Introduction Description: Down syndrome is characterized by physical and mental symptoms that have their origin in the presence of extra genetic material from chromosome 21. This may be because of duplication or translocation errors of genetic material that result in effective duplication. Patients with Down syndrome exhibit a spectrum of changes that range from mild to profound. Prevalence: Based on maternal age, from approximately 1/1250 at…

The Challenge The challenge is to use advanced reproductive technology to assist couples who have trouble conceiving through normal means. Scope of the Problem: 10%–15% of couples who are infertile require or benefit from assisted reproductive technologies. Objectives of Management: To achieve a successful pregnancy (carried to term) with minimal intervention. The treatment of an infertile couple is based on identifying the impediment to fertility and…

Introduction Description: Anovulation is characterized by the absence of ovulation in women of reproductive age. Prevalence: Up to 25% of couples who are infertile. Predominant Age: Reproductive age. Genetics: No genetic pattern. Some chromosomal abnormalities are associated with premature ovarian failure (deletions on the X chromosome). Etiology and Pathogenesis Causes: Physiologic—menopause (normal or premature), pregnancy; hormonal—elevated prolactin, hypothyroidism; functional—exercise (excessive), malnutrition, obesity, weight loss; drug-induced—alkylating chemotherapy,…

Introduction Description: Patients with androgen insensitivity have a normal male karyotype but a genetic alteration that results in somatic cells that cannot recognize or respond to testosterone. This results in a normal female phenotype, absent uterus, and scant (or absent) body hair. The syndrome was known at one time as “testicular feminization.” Prevalence: Uncommon; 10% of patients with primary amenorrhea (third most common cause). May be…