Turners Syndrome

See the discussion online at www.expertconsult.com. Female Infertility

Infertility is defined as failure of conception after 1 year of unprotected intercourse. From 15% to 20% of all couples are infertile. In women, fertility peaks between ages 20 and 24. After this, there is progressive decline in fertility until about age 32, followed by a steep decline after 40. Causes of infertility in couples tend to be one-third male factors, one-third female factors, and one-third combination. Female causes of infertility include ovarian dysfunction (40%), tubal factors (20%), cervical factors (infection, stenosis), uterine factors (infection, fibroids), and other (endometriosis, adhesions). The course of investigation for infertility should be based on a couple's wishes for fertility, their age, duration of infertility, and unique features in the history and physical examination.

Evaluation of the male partner is an integral part of the infertility workup and should coincide with the female partner's evaluation. Comprehensive history and physical examination of the female partner should include menstrual

History and physical examination for Mullerian defect, ovarian dysgenesis, pregnancy (include pregnancy test)

Table 35-8 Tests for evaluating Female Infertility

Progesterone withdrawal test. Bleeding indicates estrogen presence and intact uterus

Evaluate anovulation; estrogen present (polycystic ovary syndrome)

Prolactin level


Progesterone withdrawal test. Lack of bleeding

Plasma gonadotropins

Low or normal

CT sella for prolactinoma

Cycled estrogen and progesterone followed by repeat withdrawal test


Ovarian failure, includes gonadal dygenesis

Anovulation without estrogen; hypothalamic

Withdrawal bleeding

No withdrawal bleeding

Müllerian defect

Table 35-8 Tests for evaluating Female Infertility

Female Infertility

Common Tests

Ovulatory factors

Basal body temperature or urinary LH test (ovulatory predictor test); serum progesterone (during luteal phase); transvaginal ultrasound; TSH, FSH, prolactin, and androgens

Cervical factors

Cervical mucus evaluation; postcoital test (not sensitive)

Uterine factors

Ultrasound, hysterosalpingography, hysteroscopy, sonohysterography (for submucosal myomas and endometrial polyps), magnetic resonance imaging

Tubal factors

Hysterosalpingography; laparoscopy and chromotubation; fluoroscopic/ hysteroscopic tubal cannulation

Peritoneal factors

Ultrasound, laparoscopy

Modified from: Brassard M, AinMelk Y, Baillargeon JP. Basic infertility including polycystic ovary syndrome. Med Clin North Am 2008;92:1163-1192.

Figure 35-7 Diagnostic algorithm for evaluating a patient with primary and secondary amenorrhea. (Modified from Carr BR. Disorders of the ovaries and female, reproductive tract. In Wilson JD, Foster DW [eds]. Williams' Textbook of Endocrinology, 8th ed. Philadelphia, Saunders, 1992.)

history, prior obstetric history, secondary sexual characteristics, recent and remote history of STDs, pelvic inflammatory disease (PID), pelvic surgeries or instrumentation, hirsutism, weight changes (up and down), medications, and comorbidities. Personal and family history should include use of drugs (including alcohol, tobacco, caffeine), physical activity, douching, frequency and timing of sexual intercourse, and family history of infertility or genetic disorders. Initial laboratory testing for the female partner includes a CBC, urinalysis, STD screen, confirmation of rubella and varicella immunity, and Papanicolaou smear. Ovulation should be verified by urinary ovulation prediction kits that detect the LH surge, determination of the mid-luteal phase serum progesterone level (7 days before anticipated menses), or both. Assessment of fallopian tube patency is by hysterosalpingography (first choice) or laparoscopy (if history strongly suggests prior tubal damage). Women over age 35 should have serum FSH checked on day 3 of their menstrual cycle. A value higher than 12 IU/L is associated with poor ovarian response, and referral to a reproductive endocrinologist should be considered. Postcoital tests, endometrial biopsies, and basal body temperature records are no longer recommended as routine studies in the initial evaluation (Brassard et al., 2008; Practice Committee, 2004) (Table 35-8).

Treatment should be directed toward the underlying cause. For tubal disease, surgery and in vitro fertilization are options. Endometriosis can be managed with conservative surgery based on the degree of disease or can be circumvented through intrauterine insemination or in vitro fertilization. Ovulatory dysfunction is treated based on the underlying cause: bromocriptine for prolactinoma, metformin or clomi-phene citrate for PCOS, human menopausal gonadotropin for hypogonadotropic hypogonadism, clomiphene citrate plus glucocorticoids for adrenal hyperplasia with elevated levels of androgens, and antibiotics for infection. The family physician should strongly consider early referral to a reproductive specialist if the patient or couple have complex medical histories or advanced reproductive age.

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