A 46-year-old man is evaluated for decreased sexual performance and moderate fatigue over the last 2 years. He was diagnosed with sick sinus syndrome a year ago after an episode of syncope and received a permanent pacemaker. The patient takes no medications. He is married and has 2 children.
Vital signs and BMI are within normal limits. Physical examination shows mild testicular atrophy without gynecomastia.
Laboratory results are as follows:

The patient should be evaluated specifically for which of the following conditions?

Question

A 46-year-old man is evaluated for decreased sexual performance and moderate fatigue over the last 2 years.  He was diagnosed with sick sinus syndrome a year ago after an episode of syncope and received a permanent pacemaker.  The patient takes no medications.  He is married and has 2 children.
Vital signs and BMI are within normal limits.  Physical examination shows mild testicular atrophy without gynecomastia.
Laboratory results are as follows:

The patient should be evaluated specifically for which of the following conditions?

Quizplus · Accepted Answer

11ec193a_97cb_b54a_853d_89dd0afb0d91_MD0002_00 This patient with cardiac conduction abnormalities and secondary hypogonadism likely has hereditary hemochromatosis (HH). The classic presentation of cirrhosis, diabetes, and skin hyperpigmentation (eg, bronze diabetes) occurs in <25% of HH cases and is typically a late manifestation of the disease. Nonspecific symptoms may occur years before diagnosis and commonly include extreme fatigue, arthralgia, and loss of libido. Cardiac conduction abnormalities occur in about 31% of cases and can manifest as sick sinus syndrome, as seen in this patient. Approximately 45% of patients also develop secondary hypogonadism due to iron accumulation in the pituitary gonadotrophs. Laboratory tests may consequently show low levels of serum testosterone, LH, and FSH. Patients who undergo phlebotomy before age 40 have a higher likelihood of regaining normal gonadal function. secondary hypogonadism (Choice A) Estrogen-secreting adrenal adenomas may present with feminization in men (eg, testicular atrophy, decreased libido, gynecomastia). However, these tumors are very rare and this patient has no evidence of gynecomastia. Cardiac conduction abnormalities at a young age are also not characteristic of adrenal adenoma. (Choice C) Karyotype analysis may be considered in patients with primary hypogonadism (eg, low testosterone, elevated LH and FSH) to evaluate for congenital abnormalities such as Klinefelter syndrome. This patient has 2 children, and his laboratory results are consistent with secondary hypogonadism, making karyotype abnormalities unlikely. (Choice D) Lyme carditis may occur weeks to months after infection with Borrelia burgdorferi and can result in cardiac conduction abnormalities (primarily atrioventricular block). Lyme disease would not account for this patient's hypogonadism. (Choice E) Varicocele is an important cause of infertility and testicular atrophy and can be associated with decreased testosterone levels. However, varicocele is associated with primary, not secondary, hypogonadism due to destruction of germ cells. Educational objective: Hereditary hemochromatosis is an important cause of secondary hypogonadism and is usually due to iron deposition in the pituitary gonadotrophs. Restoration of gonadal function is more likely if phlebotomy is initiated before age 40. __________ References: Hereditary hemochromatosis. (http://www.ncbi.nlm.nih.gov/pubmed/23418762) Hypogonadotropic hypogonadism revisited. (http://www.ncbi.nlm.nih.gov/pubmed/23503957)

A 46-Year-Old Man Is Evaluated for Decreased Sexual Performance and Moderate