A 28-year-old nulligravid woman comes to the office for a routine examination. She feels well but has tried to conceive for the past 12 months without success. The patient has had sexual intercourse with her husband 3 or 4 times a week without contraception. Her menses are irregular with frequent missed periods. Every time the patient misses a period, her home pregnancy tests are negative. She has no medical conditions and has had no surgeries. The patient takes a daily prenatal vitamin and does not use tobacco, alcohol, or illicit drugs. Vital signs are normal. There is no excess hair on physical examination. Breast examination shows no masses or nipple discharge. The abdomen is soft without masses. Pelvic examination shows normal external genitalia and a small, mobile uterus. Pelvic ultrasonography shows a normal uterus and bilateral ovaries. Laboratory results are as follows: Which of the following is the most likely diagnosis in this patient?

Question

A 28-year-old nulligravid woman comes to the office for a routine examination.  She feels well but has tried to conceive for the past 12 months without success.  The patient has had sexual intercourse with her husband 3 or 4 times a week without contraception.  Her menses are irregular with frequent missed periods.  Every time the patient misses a period, her home pregnancy tests are negative.  She has no medical conditions and has had no surgeries.  The patient takes a daily prenatal vitamin and does not use tobacco, alcohol, or illicit drugs.  Vital signs are normal.  There is no excess hair on physical examination.  Breast examination shows no masses or nipple discharge.  The abdomen is soft without masses.  Pelvic examination shows normal external genitalia and a small, mobile uterus.  Pelvic ultrasonography shows a normal uterus and bilateral ovaries.  Laboratory results are as follows:  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

11ec25c8_d99c_c7a0_bc81_7393c0cc01ee_MD0003_00 This patient most likely has hypogonadotropic hypogonadism. This condition occurs when severe stress, excessive weight loss (eg, eating disorders, excessive exercise), or chronic illness causes a decrease in the amplitude and frequency of GnRH pulses secreted by the hypothalamus. As a result, there is a decrease in pituitary LH and FSH production. As a result of low LH and FSH levels, ovarian estrogen production is low and ovulation does not occur, leading to oligomenorrhea/amenorrhea and infertility. Physical examination is typically normal, although the patient may have a low BMI. First-line treatment involves management of any underlying causes. The patient should be encouraged to reduce stress, gain weight via increased caloric intake and exercise reduction, and manage any underlying chronic illness. (Choice A) An androgen-secreting tumor may present with menstrual irregularities, but patients also typically have virilization (eg, clitoromegaly, frontal balding) and elevated dehydroepiandrosterone sulfate levels. (Choices B and H) Endometriosis and tubal occlusion may cause infertility but do not present with menstrual irregularities or abnormal FSH and estrogen levels. (Choice D) Hypothyroidism can be a cause of anovulation and infertility; however, it is unlikely in this patient with a normal TSH. (Choice E) A pituitary adenoma can present with infertility and irregular menstrual cycles but also with galactorrhea (eg, prolactinoma) or symptoms suggesting a sellar mass (eg, headache, loss of peripheral vision). (Choice F) Polycystic ovary syndrome can present with irregular menses and infertility but there is also evidence of insulin resistance (eg, acanthosis nigricans, obesity) and elevated testosterone (eg, acne, hirsutism). Estradiol levels are normal to increased. (Choice G) Primary ovarian insufficiency typically presents with oligomenorrhea/amenorrhea, infertility, menopausal symptoms (eg, hot flashes), elevated FSH level, and decreased estradiol level. Educational objective: Hypogonadotropic hypogonadism (low FSH and estradiol) causes irregular menses and infertility via loss of pulsatile GnRH secretion precipitated by weight loss, stress, or chronic illness. First-line treatment involves management of any underlying causes. References: Functional hypothalamic amenorrhoea: leptin treatment, dietary intervention and counselling as alternatives to traditional practice - systematic review. (http://www.ncbi.nlm.nih.gov/pubmed/26849039)

A 28-Year-Old Nulligravid Woman Comes to the Office for a Routine