Klinefelter's syndrome. Clinical and laboratory findings in 50 patients

Abstract

A clinical study was made of 50 patients with Klinefelter''s syndrome. The average age of onset of puberty was normal. Although many patients complained of diminished libido, the majority were capable of normal coitus. One third of the patients were of eunuchoidal proportions. Diminished facial hair was present in 61% and body hair was diminished in 45% of untreated patients. Phenotypic indications of androgenicity (such as baldness, acneiform skin lesions, and a male escutcheon) were not at all unusual. Fifty percent of the patients were significantly obese. All of the patients had small testes, but in 90% the penis was of normal size. Severe psychiatric disorders occurred in one third of the patients and was of clinical significance in another third. Mental deficiency was infrequent in this series. Anemia was not found to be a characteristic of the hypogonadism of Klinefelter''s syndrome. The basal metabolic rate was below normal in 43% of the patients and averaged[long dash]14%. It is not known if this is related to a thyroldal defect or to androgenic deficiency. Gonadotropin fractionation studies in one patient did not reveal a diminution in luteinizing hormone concentration in Klinefelter''s syndrome. A number of congenital anomalies was found among the patients, although most of them were of no clinical significance. The additional X chromosome apparently did not protect these patients from degenerative cardiovascular disease. Clinically significant osteoporosis was conspicuous by its absence. Ten percent of the patients had diabetes mellitus. The interrelationship between the XXY karyotype and the clinical manifestations of Klinefelter''s syndrome is discussed.