Fertility in men with Down syndrome: A case report
ABSTRACT To inform clinicians about fertility in males with Down syndrome.
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). "
ABSTRACT: : For nonobstructive azoospermic (NOA) patients with a normal karyotype or for Klinefelter syndrome (47,XXY) patients, intracytoplasmic sperm injection is associated with an increased aneuploidy risk in offspring. We examined testicular cells from patients with different azoospermia etiologies to determine the origin of the aneuploid spermatozoa. The incidence of chromosome abnormalities was investigated in all types of azoospermia. Four study subgroups were constituted: Klinefelter patients (group 1), NOA patients with spermatogenesis failure but a normal karyotype (group 2), obstructive azoospermic patients with normal spermatogenesis (group 3), and control patients with normal sperm (group 4). The pachytene stage (in the three azoospermic groups) and postmeiotic cells (in all groups) were analyzed with fluorescence in situ hybridization. No aneuploid pachytene spermatocytes were observed. Postmeiotic aneuploidy rates were higher in the two groups with spermatogenesis failure (5.3% and 4.0% for groups 1 and 2, respectively) than in patients with normal spermatogenesis (0.6% for group 3 and group 4). Whatever the etiology of the azoospermia, the spermatozoa originated from euploid pachytene spermatocytes. These results strengthen the hypothesis whereby sperm aneuploidy in both Klinefelter patients and NOA patients with a normal karyotype results from meiotic abnormalities and not from aneuploid spermatocytes. The fact that sperm aneuploidy was more frequent when spermatogenesis was altered suggests a deleterious testicular environment. The study results also provide arguments for offering preimplantation genetic diagnosis or prenatal diagnosis when a pregnancy occurs for fathers with NOA (whatever the karyotype).Journal of Andrology 11/2012; 33(6). DOI:10.2164/jandrol.111.016329 · 1.69 Impact Factor
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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). "
ABSTRACT: Down syndrome is one of the most common conditions encountered in the genetics clinic. Due to improvements in healthcare, educational opportunities, and community inclusion over the past 30 years, the life expectancy and quality of life for individuals with Down syndrome have significantly improved. As prenatal screening and diagnostic techniques have become more enhanced and widely available, genetic counselors can expect to frequently provide information and support following a new diagnosis of Down syndrome. This guideline was written for genetic counselors and other healthcare providers regarding the communication of a diagnosis of Down syndrome to ensure that families are consistently given up-to-date and balanced information about the condition, delivered in a supportive and respectful manner.Journal of Genetic Counseling 05/2011; 20(5):432-41. DOI:10.1007/s10897-011-9375-8 · 1.75 Impact Factor
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ABSTRACT: In the present work, the addition of some inducers of the ligninolytic activity such as veratryl alcohol and MnO2 to stationary corncob cultures of Phanerochaete chrysosporium was studied. Supplementing the cultures with veratryl alcohol (final concentration 2 mM) in one case or with manganese (IV) oxide (1g/1 medium) in the other case, manganese-dependent peroxidase and lignin peroxidase activities were increased up to 6-fold. Moreover, high laccase activities were found.Veratryl alcohol appeared to help maintaining MnP activity levels in the cultures whereas MnO2 provoked a similar effect on laccase activity.On the other hand, the enzymes produced were studied by SDS-PAGE techniques and the relationship between the composition of the sample cultures and their catalytic properties was investigated. Several different proteins were detected and the major ones had molecular weights around 40 kDa.