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Spermatogenesis in Klinefelter syndrome.

R Selice¹, A Di Mambro, A Garolla

¹Department of Histology, Microbiology and Medical Biotechnologies, Section of Clinical Pathology & Center for Male Gamete Cryopreservation, University of Padua, Via Gabelli 63, Padua, Italy.

Journal of Endocrinological Investigation

|March 25, 2010

Summary

Men with Klinefelter syndrome (KS) can still have sperm in their ejaculate or testes, but sperm aneuploidy is common. Hypoandrogenism may be linked to lower sperm recovery rates in KS patients.

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Area of Science:

Reproductive Endocrinology
Human Genetics
Urology

Background:

Klinefelter syndrome (KS), characterized by a 47,XXY karyotype, is the most prevalent sex chromosomal disorder and a common cause of male hypogonadism and infertility.
While many KS patients are azoospermic, some exhibit severe oligozoospermia or localized spermatogenesis within the testes.

Purpose of the Study:

To document the success rates of sperm retrieval from both ejaculate and testicular tissue in men with KS.
To determine the frequency of chromosomal abnormalities in sperm obtained from KS patients.

Main Methods:

Eighty-four men with 47,XXY KS underwent comprehensive evaluation, including semen analysis, assessment of body hair, reproductive hormone levels, and testicular/prostate ultrasonography.
Sperm retrieval was attempted via bilateral testicular sperm extraction (TESE) in azoospermic individuals.
Sex chromosome aneuploidies were analyzed in retrieved sperm or testicular cells.

Main Results:

Sperm was found in the ejaculate of 7 out of 84 (8.3%) KS patients.
In the 77 azoospermic patients, TESE yielded successful sperm recovery in 9 out of 24 (37.5%) cases.
Patients with successful sperm recovery showed no significant differences in reproductive hormones, age, or testicular volume compared to those without.
Hypoandrogenism was more pronounced in patients with unsuccessful sperm recovery.
KS patients exhibited a higher incidence of sperm aneuploidy compared to normozoospermic controls and men with non-genetic severe oligozoospermia.

Conclusions:

Men with Klinefelter syndrome are not universally sterile; viable sperm can be retrieved from semen or testicular tissue.
A significant proportion of sperm obtained from KS patients display chromosomal aneuploidies.
The presence of hypoandrogenism appears correlated with reduced rates of successful sperm retrieval.