A 47-year-old man comes to the office with his wife due to a gradually decreasing sex drive and difficulty sustaining an erection during sexual intercourse over the past 1-2 years. They have had satisfying sexual interactions in the past and have 2 teenage children. On questioning, the patient is unable to recall any spontaneous nocturnal erections of late. Medical history is otherwise unremarkable and he takes no medications. He does not use tobacco or alcohol. Family history is significant for diabetes mellitus in his father and uncle. Temperature is 37 C (98.6 F), blood pressure is 126/84 mm Hg, pulse is 74/min, and respirations are 14/min. The patient has a dark complexion with sparse body hair. The thyroid is normal to palpation. Lung auscultation and heart sounds are normal. The abdomen is nondistended, soft, and nontender, with the liver edge palpable 1 cm below the right costal margin. External genitalia appear normal, with a mild decrease in testicular volume. Visual fields are full to confrontation. Laboratory results are as follows: Which of the following is the best management strategy for this patient?

Question

A 47-year-old man comes to the office with his wife due to a gradually decreasing sex drive and difficulty sustaining an erection during sexual intercourse over the past 1-2 years.  They have had satisfying sexual interactions in the past and have 2 teenage children.  On questioning, the patient is unable to recall any spontaneous nocturnal erections of late.  Medical history is otherwise unremarkable and he takes no medications.  He does not use tobacco or alcohol.  Family history is significant for diabetes mellitus in his father and uncle.  Temperature is 37 C (98.6 F), blood pressure is 126/84 mm Hg, pulse is 74/min, and respirations are 14/min.  The patient has a dark complexion with sparse body hair.  The thyroid is normal to palpation.  Lung auscultation and heart sounds are normal.  The abdomen is nondistended, soft, and nontender, with the liver edge palpable 1 cm below the right costal margin.  External genitalia appear normal, with a mild decrease in testicular volume.  Visual fields are full to confrontation.  Laboratory results are as follows:  Which of the following is the best management strategy for this patient?

Quizplus · Accepted Answer

Explanation: 11ec2b69_bebe_370a_8f63_51eb653af5ae_MD0005_00 This patient has erectile dysfunction, testicular atrophy, and a low serum testosterone level. His gonadotropin levels are low, suggesting a pituitary cause (secondary hypogonadism). Common causes of acquired secondary hypogonadism include use of anabolic steroids, chronic glucocorticoid or opioid use, hyperprolactinemia, chronic kidney or liver disease, diabetes, and pituitary tumors. In addition, he has elevated hepatic transaminases with hepatomegaly, hyperpigmentation, and a family history of diabetes. These features are concerning for hereditary hemochromatosis (HH), an autosomal recessive disorder characterized by iron deposition in a variety of tissues, leading to multisystem organ damage. Clinical manifestations of HH usually appear in the fourth to sixth decade, with women presenting later due to menstrual iron loss. The initial evaluation includes serum iron studies, which show increased levels of iron, ferritin, and transferrin saturation. The diagnosis is confirmed with genetic testing for hemochromatosis-associated mutations (eg, HFE). The preferred means of treating HH is therapeutic phlebotomy, with removal of approximately 1 unit of blood each week until iron stores normalize. (Choice A) Dietary modification in HH has little impact, as patients have an excess absorption of iron of only 0.5-1 mg/day compared with a total body iron content of 20,000 mg or more. Therapeutic phlebotomy removes approximately 250 mg each week and is a much more effective means of depleting iron stores. (Choice B) Liver transplantation is indicated for patients with HH who develop advanced liver disease with cirrhosis. However, it is not a first-line treatment and is unlikely to be needed in this patient. (Choice C) Penicillamine is used to increase the excretion of copper (not iron) and is used in the treatment of Wilson disease. Wilson disease also causes chronic liver disease but is much rarer than HH, presents at an earlier age, and is associated with significant neurologic symptoms (eg, movement disorders). (Choice D) Glucocorticoids are not indicated for the treatment of HH and could worsen this patient's hyperglycemia and hypogonadism. Educational objective: Hereditary hemochromatosis can cause secondary hypogonadism. It is associated with increased serum levels of iron, ferritin, and transferrin saturation. The diagnosis is confirmed with genetic testing for HFE mutations. The preferred treatment is therapeutic phlebotomy. References: Hereditary hemochromatosis. (http://www.ncbi.nlm.nih.gov/pubmed/23418762)

A 47-Year-Old Man Comes to the Office with His Wife