Why does Klinefelter syndrome often remain undiagnosed?
Daria Gusakova1, Svetlana Kalinchenko2, George Mskhalaya2 & Yuliya Tishova3
Introduction: Underdiagnosis and delayed diagnosis of Klinefelter syndrome (KS) is a major problem. KS is revealed only in 25% of the expected amount of patients. Early diagnosis facilitates prevention of the long-term consequences of hypogonadism and permits to begin testosterone-replacement therapy opportunely. The prototypic patient with KS has traditionally been described as tall, thin, with long hips, narrow shoulders, having gynecomastia, small testes, sparse body hair and azoospermia. A less similar phenotype, however, has been described.
Objective: To study the phenotypic differences of patients with KS (karyotype 47,XXY).
Materials and methods: Twenty-six men with KS (karyotype 47,XXY) diagnosed in the age of 1537 years were examined for height, weight, waist circumference, BMI, testes volume and presence of gynecomastia. Spermograms of 6 patients complaining on infertility were examined.
Results: Height of 14 men with KS (53.8%) was within the limits of 180189 cm. Eight patients (30.8%) were higher than 190 cm. Height of 4 patients (15.4%) was less than 180 cm, that is the medium height of men in Russian Federation. Twelve patients with KS (46.1%) had abdominal obesity (waist circumference more than 94 cm). These were the patients with late diagnosed KS (24 years and older) and, therefore, late start of testosterone-replacement therapy. Gynecomastia was found in 16 patients with KS (61.5%). All patients had small testicular volume (from 1 till 12 cm3) but different density of testes (from very firm till soft in 3 men and even flabby in 2 patients). We examined spermograms of 6 patients. Four of them had azoospermia and 2 had oligozoospermia of high degree.
Conclusion: The phenotype of KS patients significantly varies. All the patients with testes volume, less than 12 ml, or primary hypogonadism should pass karyotype analysis.