A 52-year-old man comes to the office due to a 1-year history of erectile dysfunction and decreased libido. He also has a history of type 2 diabetes mellitus and peripheral neuropathy. He takes metformin, glipizide, and gabapentin. The patient does not use tobacco or alcohol. He is married with one child from a previous marriage. Vital signs are within normal limits. Physical examination shows small testes bilaterally with otherwise normal secondary sexual characteristics.
Laboratory results are as follows:
Hemoglobin A1C: 5.8%
Serum creatinine: 1.1 mg/dL
Alanine aminotransferase (SGPT): 21 U/L
Ferritin: 1200 ng/mL (normal: 15-150 ng/mL)
Transferrin saturation: 85% (normal: 20-50%)
Which of the following is the most appropriate next step in the management of this patient?
The correct answer is:
C) Phlebotomy therapy
This patient’s erectile dysfunction and decreased libido, along with small testes and elevated serum ferritin and transferrin saturation, suggest a diagnosis of hereditary hemochromatosis (HH). HH can cause secondary hypogonadism due to iron deposition in the pituitary gland, impairing gonadotropin production and leading to decreased testicular testosterone production and testicular atrophy. HH is an inherited disorder in which most affected individuals are homozygous for the C282Y variant in the HFE gene. This causes lifelong increased intestinal iron absorption, iron overload, and ultimately tissue damage. Homozygosity for C282Y accounts for approximately 90 percent of HH cases. Phlebotomy is the main intervention to remove excess iron. The procedure is essentially the same as donating blood and may help restore gonadal function.
Answer choice A: Karyotype analysis, is incorrect. Klinefelter syndrome can cause hypogonadism but is typically associated with infertility and does not cause elevated iron levels.
Answer choice B: Nocturnal polysomnography, is incorrect. Nocturnal polysomnography is used for obstructive sleep apnea, which can be associated with erectile dysfunction, but this patient’s symptoms and laboratory results suggest HH.
Answer choice D: Scrotal ultrasound, is incorrect. Scrotal ultrasound may be performed for structural abnormalities, but it is not the initial test for suspected HH.
Answer choice E: Serum LH and FSH levels, is incorrect. Serum LH and FSH levels can be helpful in diagnosing the type of hypogonadism but are not the immediate next step when HH is suspected.
Key Learning Point
In a patient with erectile dysfunction, decreased libido, small testes, and elevated ferritin and transferrin saturation, hereditary hemochromatosis should be suspected, and phlebotomy therapy should be initiated to reduce iron overload and potentially restore gonadal function.
