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‘And one cold winter, my leg hair fell out’
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A 39-year-old man presents with the complaint of erectile dysfunction, which started rather suddenly four years ago, and fatigue, which had worsened during the past year. He states that his libido is fine, but he has not engaged in relations with his wife due to his erectile dysfunction. He has seen four other doctors during the past year and was prescribed transdermal testosterone, which he discontinued after two months because his symptoms did not improve. On further review, the patient shaves once every two to three weeks. Sildenafil use was discontinued after experiencing blurred vision and palpitations. He entered puberty around 9 years old and noticed that his leg hair fell out “one cold winter” four years ago. Review of systems is otherwise completely unremarkable except for mild fatigue.
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The patient denies any past medical history, surgical history, medication use, nutritional supplements or drug allergies. He works as a janitor at a hospital and emigrated from Nigeria five years ago. Family history is noncontributory.
Pertinent physical exam includes: blood pressure, 110 mm Hg/70 mm Hg; pulse, 68; height, 6’3”; and weight, 214 lb (97.07 kg).
He has no gynecomastia. His phallus is normal in shape and size; female-pattern hair distribution; testicular size approximately 12 mL bilaterally and soft; normal judgment and insight; normal mood/affect; and nonanxious. He also has decreased body hair and particularly smooth legs.
A morning (8 a.m.) testosterone level is drawn, and is <15 ng/dL, and dehydroepiandrosterone sulfate is also <15 mcg/dL — both low.
Which step should not initially be taken in the management of this patient?
A. Repeat the blood draw.
B. Call the lab and add luteinizing hormone and follicle-stimulating hormone to the measurement.
C. Call the lab and add cortisol to the measurement.
D. Prescribe transdermal testosterone 1% 5 g daily.
E. Call the lab and add free thyroxine and thyroid-stimulating hormone to the measurement.
CASE DISCUSSION:
Answer: D
This patient with erectile dysfunction and mild fatigue presented with loss of body hair and small, soft testicles. A hypogonadism workup was therefore in order. However, low as one would expect the testosterone to be, a level that is below the detection threshold is highly suspicious of a lab or collection error and should therefore be repeated (A). If the patient is thought to be truly hypogonadal, one should evaluate whether this condition is of a primary (testicular) or secondary nature. Small, soft testicles can be explained by low gonadotropin levels (B). Even patients who are surgically or hormonally castrated have testosterone levels between 25 ng/dL and 60 ng/dL due to extratesticular testosterone production. A level this low, in conjunction with a low DHEA sulfate level, therefore should prompt suspicion that the patient may have adrenal insufficiency as well (C). Finally, in a patient with fatigue, thyroid function tests are also in order (E). The one thing not to do in this case is blindly prescribe testosterone without paying attention to the causality (D).
In this case, LH and FSH were 0; 8 a.m. cortisol was low at 2 mcg/dL; TSH was normal at 2.7 uIU/mL; but free T4 was low at 0.50 ng/dL and insulin-like growth factor I was also low at 89 ng/mL. Prolactin was normal. Other than fatigue, the patient had no signs or symptoms of adrenal insufficiency.
An MRI showed an empty sella and, when pressed, the patient admitted to having had resection of a large pituitary tumor through a sublabial approach in his home country. He recalled having taken medications before he emigrated but was concerned that divulging his medical history to his doctor could jeopardize his new life in the United States. The patient was assigned to prednisone, transdermal testosterone and thyroid hormone and is now feeling much better.
Ronald Tamler, MD, PhD, MBA, is Assistant Professor in the Division of Endocrinology at Mount Sinai School of Medicine, N.Y.