Klinefelter syndrome (KS) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The phenotype is variable ranging from nearnormal to a significantly affected individual. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty.
Patients and methods: This is an 8-year retrospective study of the clinical and paraclinical characteristics of patients with Klinefelter syndrome diagnosed in the Department of Cytogenetics and Reproductive Biology at Farhat Hached University Hospital Center at Sousse.
Results: The study involved 129 patients with a mean age of 35.7 years . The reason for consultation was infertility in 88.4% of cases (117 patients), signs of hypogonadism in 7% of cases (9 patients), erectile dysfunction in 2.3% (3 patients) and missing in 3 patients. All patients had bilateral testicular hypotrophy. Eighty-two patients (63.6%) had normal secondary sexual characteristics. One hundred and nineteen patients (92.2%) had azoospermia and 2 patients (1.6%) had oligozoospermia. In 8 patients, the spermogram result was not available. Twenty-eight patients had a hormonal assessment. Testosterone was normal low between [2.75.67] ng/ml in 13 patients and low in 15 patients.
Conclusion: The diagnosis of KS should be suspected in patients with bilateral testicular hypotrophy associated with primary infertility in adults. Clearly, the earlier the diagnosis is made, the greater the benefits. Thanks to the new medically assisted procreation techniques, based essentially on the techniques of testicular extraction and sperm, these patients chances of procreation have become real.
18 - 21 May 2019
European Society of Endocrinology