[Clinical and paraclinical features of Klinefelter syndrome consulting for male infertility]

Purpose: To attract urologists' attention on screening of Klinefelter syndrome consulting for infertility, describing its usual phenotype, in order to propose a possible reproductive technique, to prevent and to treat associated comorbidities and to manage the frequent discovery of ultrasonographic testicular lesions.

Patients and methods: Retrospective analysis over 10 years of clinical and paraclinical features of the patients who consulted for infertility and had a 47,XX7 regular or mosaic karyotype.

Results: One hundred and forty-nine patients, 31.7 year-old on average [20.7-42.7], all had a severe bilateral testicular hypotrophy, subsequently confirmed by ultrasonography (mean total testicular volume: 3.7 mL [-0.20-7.64]). One hundred and twenty-two (81.9%) had normal secondary sexual characteristics, only 4 of them (2.7%) already knew their diagnosis. Their mean total testosterone levels were low (3.12 ng/mL [0.39-5.86]) but remain normal. A total of 34.2% of patients had subclinical testicular nodules discovered by ultrasonography. Excision was performed in 12 cases, confirming Leydig cell tumors.

Conclusion: Klinefelter syndrome diagnosis can be made during a first consultation with a bilateral testicular hypotrophy as "pathognomonic" point of call in an often poor clinical observation. It is completed by an azoospermia or severe oligozoospermia. If they want to, this allows to quickly guide patients to suitable medical reproductive technique but, especially, to prevent and quickly treat comorbidities associated to this diagnosis, and also to reassure patients about the frequent discovery of subclinical testicular lesions.