A 33-year-old woman comes to the clinic due to a 14-month history of inability to conceive… — USMLE Step 2 CK

A $33$ -year-old woman comes to the clinic due to a $14$ -month history of inability to conceive. She and her husband have regular, unprotected intercourse. Menarche was at age $12$ . Her menstrual cycles were previously regular, but they became irregular $2$ years ago. For the past $6$ months, she has had no menses. She reports intermittent episodes of sudden warmth and sweating, particularly at night. She has no significant past medical history and takes no medications. Vital signs are within normal limits. BMI is $22 \text{ kg/m}^2$ . Pelvic examination shows pale, thin vaginal mucosa with loss of rugae. The uterus is of normal size and adnexa are nonpalpable.

Laboratory studies show the following:

Laboratory Test	Result	Reference Range
Urine $\beta$ -hCG	Negative	Negative
Follicle-stimulating hormone (FSH)	$82 \text{ mIU/mL}$	$4.7 - 21.5 \text{ mIU/mL}$
Luteinizing hormone (LH)	$54 \text{ mIU/mL}$	$5.0 - 25.0 \text{ mIU/mL}$
Prolactin	$14 \text{ ng/mL}$	$< 20 \text{ ng/mL}$
Thyroid-stimulating hormone (TSH)	$1.8 \text{ }\mu\text{U/mL}$	$0.5 - 5.0 \text{ }\mu\text{U/mL}$
Estradiol	$16 \text{ pg/mL}$	$30 - 400 \text{ pg/mL}$

Which of the following is the most appropriate next step in management for this patient?

A
Clomiphene citrate therapy
B
MRI of the brain
C
Administration of a progestin challenge
Karyotype analysisCevap
E
Measurement of serum $17$ -hydroxyprogesterone

Cevap

Karyotype analysis is the most appropriate next step to evaluate for chromosomal abnormalities in this patient with primary ovarian insufficiency.

This patient presents with secondary amenorrhea, vasomotor symptoms (night sweats), vaginal atrophy, elevated gonadotropins (FSH and LH), and low estradiol, which confirm the diagnosis of primary ovarian insufficiency (POI). Because POI can be associated with chromosomal abnormalities (e.g., Turner syndrome mosaicism) or the presence of Y-chromosome material, women under age

40

with spontaneous POI should undergo karyotype analysis. Identifying a chromosomal anomaly is crucial, particularly if Y-chromosome material is present, as it significantly increases the risk of developing a gonadoblastoma and warrants prophylactic gonadectomy.

Adım Adım Çözüm

Interpret the clinical presentation and laboratory results.

The patient has secondary amenorrhea, hypoestrogenic symptoms (hot flashes, vaginal atrophy), significantly elevated FSH and LH, and low estradiol.

To establish the underlying diagnosis of primary ovarian insufficiency (POI) rather than a central or hyperandrogenic cause of amenorrhea.

Identify the recommended evaluation guidelines for the confirmed diagnosis.

Guidelines recommend further genetic evaluation for women diagnosed with POI under the age of 40.

To rule out underlying genetic etiologies, such as Turner syndrome mosaicism or the presence of Y-chromosome material, which carries a risk of malignancy.

Anahtar Kavram

The evaluation of primary ovarian insufficiency (POI) in patients under age

40

requires karyotype analysis to rule out underlying chromosomal abnormalities.

Tahmini Süre:1m 30s

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