Fertility in men with Down syndrome: A case report

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. <>
Fertility and sterility (Impact Factor: 4.59). 01/2007; 86(6):1765.e1-3. DOI: 10.1016/j.fertnstert.2006.03.071
Source: PubMed

ABSTRACT To inform clinicians about fertility in males with Down syndrome.
Case report.
Medical Genetics Department of a tertiary-care hospital.
A 26-year-old man with confirmed nonmosaic trisomy 21.
Karyotype, amniocentesis, paternity testing using microsatellite markers.
Confirmed paternity in the son of a male with nonmosaic trisomy 21.
A male with nonmosaic Down syndrome fathered a normal son, and the paternity was proven by microsatellite marker analysis.
Although Down syndrome males have been reported to be infertile, it may not always be true. Infertility in males has been attributed to defective spermatogenesis, but ignorance of the sexual act may be one of the contributing factors. It is important to advise postpubertal Down syndrome males on contraceptive measures.

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    • "In our experience, a 47,XXY pachytene has never been observed. In contrast, in cases of supernumerary autosomes, proven fertility has been described in a Down syndrome–affected male (Pradhan et al, 2006). The same is true for small supernumerary markers, which are known to not be associated with a severe alteration of spermatogenesis and which are frequently found fortuitously, even if spermatogenesis breakdown has been reported in one case (Jaafar et al, 1994). "
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    • "However, empiric risks are difficult to estimate, as reproduction rates are low. Males with Down syndrome are typically infertile, although there have been reports of men with Down syndrome who have fathered pregnancies (Pradhan et al. 2006). Females with Down syndrome are typically fertile and empiric data indicate a 30–50% chance of having a child with Down syndrome (Gardner and Sutherland 2004; Harper 2004). "
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