A 30-year-old nulliparous woman comes to the office due to amenorrhea. Shortly after menarche at age 15, the patient began taking combined estrogen/progestin oral contraceptives for irregular menstrual cycles. While she was using contraception, her menstrual periods occurred every 28 days and consisted of 3-4 days of light bleeding. The patient stopped using contraception a year ago to conceive, and since then has not had a menstrual period. She has hot flashes several times a day and often awakens at night with profuse sweating. The patient has no chronic medical conditions and has had no previous surgeries. She takes a daily multivitamin and acetaminophen occasionally for headaches. Her sister (age 40) has 2 children and has regular monthly menses. Blood pressure is 110/70 mm Hg, weight is 65 kg (143.3 lb), and height is 152.5 cm (5 ft). Laboratory results are as follows: Pelvic ultrasound shows a normal uterus with a thin endometrial stripe and small ovaries bilaterally. Which of the following is the best next step in diagnosis of this patient's condition?
A)Endometrial biopsy
B)Karyotype analysis
C)MRI of the head
D)MRI of the pelvis
E)Operative hysteroscopy

Question

A 30-year-old nulliparous woman comes to the office due to amenorrhea.  Shortly after menarche at age 15, the patient began taking combined estrogen/progestin oral contraceptives for irregular menstrual cycles.  While she was using contraception, her menstrual periods occurred every 28 days and consisted of 3-4 days of light bleeding.  The patient stopped using contraception a year ago to conceive, and since then has not had a menstrual period.  She has hot flashes several times a day and often awakens at night with profuse sweating.  The patient has no chronic medical conditions and has had no previous surgeries.  She takes a daily multivitamin and acetaminophen occasionally for headaches.  Her sister (age 40) has 2 children and has regular monthly menses.  Blood pressure is 110/70 mm Hg, weight is 65 kg (143.3 lb), and height is 152.5 cm (5 ft).  Laboratory results are as follows:  Pelvic ultrasound shows a normal uterus with a thin endometrial stripe and small ovaries bilaterally.  Which of the following is the best next step in diagnosis of this patient's condition?
A)Endometrial biopsy 
B)Karyotype analysis 
C)MRI of the head 
D)MRI of the pelvis 
E)Operative hysteroscopy

Quizplus · Accepted Answer

Explanation: 11ec2b69_c140_c345_8f63_438771f2f66e_MD0005_00 The initial evaluation of secondary amenorrhea (no menses for >3 months in patients with previously regular menses) includes a pregnancy test and TSH, prolactin, and FSH levels. An elevated FSH level is consistent with a loss of ovarian function (ie, hypoestrogenism). When this hypergonadotropic hypogonadism (eg, elevated FSH, low estrogen) occurs in patients age <40, it is referred to as primary ovarian insufficiency (POI). Additional features include infertility, hot flashes, night sweats, and vaginal atrophy, all of which are due to low estrogen. Pelvic ultrasound typically shows a thin endometrium and small (atrophic) ovaries. After the diagnosis of POI is confirmed, further evaluation is indicated to determine an underlying etiology because many have associated comorbidities that require additional management. Common causes of POI include: Chemoradiation Autoimmune disease (eg, adrenal insufficiency, hypothyroidism) Genetic anomalies (eg, fragile X syndrome, Turner syndrome) Therefore, all patients with POI undergo testing for adrenal antibodies, TSH, and karyotype analysis. Management is with initiation of estrogen replacement (typically balanced by progesterone supplementation) to preserve sexual health and minimize the risk of osteoporosis and cardiovascular disease. (Choice A) In patients age <45, such as this one, an endometrial biopsy is performed in the evaluation of abnormal uterine bleeding associated with excessive estrogen (eg, obesity, anovulation) to exclude endometrial cancer. This patient's amenorrhea is due to low estrogen (eg, hot flashes, thin endometrial stripe); therefore, endometrial cancer is unlikely. (Choice C) MRI of the head assesses for a pituitary adenoma (ie, prolactinoma) in patients with secondary amenorrhea and an elevated prolactin level. Gonadotroph adenomas (eg, FSH-secreting) are rare; patients have estrogen excess due to constant ovarian stimulation. (Choice D) Pelvic MRI evaluates for uterine anomalies (eg, septate uterus, uterus didelphys), which can present with menstrual abnormalities. This patient has a normal uterus on ultrasound, and an MRI is not indicated. (Choice E) Operative hysteroscopy is indicated in patients with amenorrhea and concern for Asherman syndrome, which results from a scarred endometrial cavity from intrauterine adhesions (eg, curettage, pelvic inflammatory disease). Patients with amenorrhea from intrauterine adhesions have normal serum estrogen levels. Educational objective: Primary ovarian insufficiency (POI) is the loss of ovarian function in patients age <40 and typically presents with infertility and/or secondary amenorrhea. Diagnosis is confirmed by an elevated FSH level and a low estrogen level. Patients with POI undergo testing for adrenal antibodies, thyroid-stimulating hormone, and karyotype analysis. References: Genes involved in the pathogenesis of premature ovarian insufficiency. (http://www.ncbi.nlm.nih.gov/pubmed/26112693) Genetic aspects of premature ovarian failure: a literature review. (http://www.ncbi.nlm.nih.gov/pubmed/21188402)

A 30-Year-Old Nulliparous Woman Comes to the Office Due to Amenorrhea