A 29-year-old woman, gravida 1 para 0 aborta 1, comes to the office due to amenorrhea. Prior to initiation of oral contraceptives 7 years ago, she had regular menses every 31 days consisting of 5 days of heavy bleeding. While the patient was on oral contraceptives, her menses continued to be regular. She stopped taking oral contraceptives 8 months ago in anticipation of pregnancy but has yet to have a menstrual period. The patient has also had pain during intercourse and episodes of anxiety and flushing, which she attributes to "relationship problems." She has had no headaches, galactorrhea, or changes in vision.
Medications include levothyroxine for primary hypothyroidism. The patient's only surgery was a suction curettage for an elective termination of pregnancy at age 17. Her father has hypothyroidism and her brother has type 1 diabetes mellitus. The patient does not use tobacco, alcohol, or illicit drugs. She runs 5 miles a day.
Vital signs are within normal limits. BMI is 30 kg/m². The thyroid gland is diffusely enlarged and firm. The remainder of the examination is within normal limits.
A urine pregnancy test is negative. Laboratory evaluation reveals normal prolactin and TSH levels. FSH is 66 mIU/mL and serum estradiol is low.
Which of the following is the most likely diagnosis in this patient?

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Quizplus · Accepted Answer

11ec193a_97de_ef53_853d_bdb680e83a2c_MD0002_00 Primary ovarian insufficiency (POI) is ovarian failure in women age <40. Patients typically present with irregular or absent menses, often after cessation of oral contraceptives, which can mask menstrual irregularities. In younger women, symptoms (eg, hot flashes, flushing, night sweats) are often attributed to mood disorders (eg, anxiety) or relationship issues (eg, dyspareunia). Patients with POI have an elevated FSH level within the postmenopausal range (consistent with ovarian failure). Most cases are idiopathic. Otherwise, common etiologies of POI include: cancer treatment (eg, radiation, chemotherapy); genetic predisposition (eg, Turner syndrome, fragile X syndrome); and autoimmune disorders (eg, autoimmune oophoritis), as is likely in this patient with a history of hypothyroidism and family history of autoimmune conditions.. Evaluation for patients with POI should include screening for underlying etiology. Bone mineral density screening is performed due to elevated risk of osteoporosis secondary to low estrogen levels. Estrogen/progestin-containing therapy can maintain or restore bone strength and control vasomotor symptoms. Infertility due to loss of ovarian function in POI can be treated with donor egg in-vitro fertilization or donor embryo transfer. (Choice A) Endometrial scarring (eg, Asherman syndrome) can cause amenorrhea following uterine instrumentation (eg, suction curettage) or from endometrial infection. This patient had normal menses after her suction curettage prior to initiation of oral contraceptives and has no history of endometrial infection. (Choice B) Functional hypothalamic amenorrhea occurs in patients with relative caloric deficiency, leading to low GnRH, FSH, and estrogen levels. This patient's FSH level is elevated. (Choice C) Pituitary adenomas release excessive prolactin, which inhibits GnRH, leading to low FSH levels. Associated pituitary adenoma symptoms of headache, vision changes, and bilateral galactorrhea are not seen in this case. This patient has an elevated FSH level. (Choice D) Patients with polycystic ovary syndrome (PCOS) are typically obese and have oligomenorrhea and increased androgens (eg, hirsutism, nodulocystic acne). FSH is normal in PCOS. Educational objective: Primary ovarian insufficiency is loss of ovarian function in women age <40, resulting in amenorrhea and menopausal symptoms (eg, hot flashes, dyspareunia). Risk factors include autoimmune disease, genetic abnormalities (eg, Turner syndrome, fragile X syndrome), and previous chemoradiation. Laboratory evaluation shows elevated FSH and low estradiol levels. __________ References: Primary ovarian insufficiency. (http://www.ncbi.nlm.nih.gov/pubmed/20708256)

A 29-Year-Old Woman, Gravida 1 Para 0 Aborta 1, Comes