Male fertility in Down syndrome

Jazayeri O, Gorjizadeh N. A male Down syndrome with two normal boys: Cytogenetic, paternity and andrological investigations. Andrologia. 2020 Apr;52(3):e13521. doi: 10.1111/and.13521. Epub 2020 Jan 31. PMID: 32003054.

Abstract

Down syndrome is the most common autosomal chromosome anomaly with several medical abnormalities and intellectual disability, occurring in about of 1:1,000 to 1:1,100 infants. Many pregnancies in women with Down syndrome produce children both with normal and with trisomy 21, whereas males are infertile. However, Down syndrome males are not always infertile and this is not global. Here we reported a 36-year-old man with proved nonmosaic trisomy 21 fathered two normal boys. Paternity analysis using 26 microsatellite loci confirmed that Down syndrome male is the biological father of his two normal boys. Serum LH, FSH, testosterone and 17-OH progesterone were all in the normal range in this father with Down syndrome. To the best of our knowledge, this is the second report of one man with Down syndrome who has two normal children in the world. The current study not only supports the rare evidence of the fertility of males with Down syndrome but also highlights the caution in advising people responsible for the care of adults with this condition about possible fertility and transmission of sexual diseases as well.

Pradhan M, Dalal A, Khan F, Agrawal S. Fertility in men with Down syndrome: a case report. Fertil Steril. 2006 Dec;86(6):1765.e1-3. doi: 10.1016/j.fertnstert.2006.03.071. Epub 2006 Nov 13. PMID: 17094988.

Abstract

Objective: To inform clinicians about fertility in males with Down syndrome.

Design: Case report.

Setting: Medical Genetics Department of a tertiary-care hospital.

Patient(s): A 26-year-old man with confirmed nonmosaic trisomy 21.

Intervention(s): Karyotype, amniocentesis, paternity testing using microsatellite markers.

Main outcome measure(s): Confirmed paternity in the son of a male with nonmosaic trisomy 21.

Result(s): A male with nonmosaic Down syndrome fathered a normal son, and the paternity was proven by microsatellite marker analysis.

Conclusion(s): 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.