Klinefelters

Clinic Visit after D/C

Admits to his PCP that he has Klinefelter’s Syndrome, diagnosed years ago.
Just gotten married, she doesn’t know that he has this condition, and she wants children.

Defined

Klinefelter's syndrome is the most common cause of primary testicular failure, resulting in impairment of both spermatogenesis and testosterone production. It is a chromosomal disorder (XXY, XXXY, etc.) characterized by small, firm testes, azoospermia, gynecomastia, varying degrees of eunuchoidism and testosterone deficiency with elevated gonadotropin plasma levels. ²

Treatment

Testosterone: The primary clinical symptoms of KS are treatable. While surgery can correct gynecomastia, testosterone injections can correct hair loss and promote muscle mass. Testosterone supplementation should begin in puberty (optimally at age 11 or 12) but is also beneficial in adulthood.

Hormonal screening can assess testosterone levels performed in the morning. The average male produces 4 to 7 mg of testosterone per day in a circadian pattern that peaks in the morning and is minimal in the evening. However, testicular size, sterility, and gynecomastia will not be affected by testosterone supplementation.

Klinefelter’s - Thrombophilia Connection

Supporting Cases

In Klinefelter's syndrome there is an increase of certain systemic diseases including VTE. An increased thromboembolic risk in hypogonadic men has been explained with hypofibrinolysis due to Androgen deficiency. Only 3 cases have been reported about the association between Klinefelter's syndrome and well-known inherited or acquired thrombophilias.

We report the case of a 39-year-old patient with Klinefelter's syndrome who underwent severe DVT with non-fatal PE, in the absence of any circumstantial triggering event. Further examinations also showed a double heterozygosis for G20210A prothrombin and factor V Leiden mutations. ¹

Another case presentation of a 43yo Male with eunuchoid body proportions and PMH of DVTs in the Right Leg presented with recurrent leg Ulcers. Karyotyping revealed 47xxy, Klinefelter’s Syndrome and Serological Testing revealed Protein S deficiency, Hyperhomocysteinemia, and Positive Lupus Anticoagulant. He additionally had Sharp’s Syndrome, mixed connective tissue disease and osteoporosis. There is evidence that pts. with Klinefelter’s syndrome are prone to develop connective tissue diseases and Thrombophilias as a results of Low Androgen Levels. ³

These cases suggest that the increased thromboembolic risk, reported in Klinefelter's syndrome, can be worsened by the co-existence of one or more well-known thrombophilic conditions, as shown by the relatively young age of the patient. Though more evidence-based research is needed on this subject.