Fertility in men with Down syndrome: a case report


      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.

      Main Outcome Measure(s)

      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.

      Key Words

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        • Zuhlke C.
        • Thies U.
        • Braulke I.
        • Reis A.
        • Schirren C.
        Down syndrome and male fertility: PCR-derived fingerprinting, serological and andrological investigations.
        Clin Genet. 1994; 46: 324-326
        • Bobrow M.
        • Barby T.
        • Hajianpour A.
        • Maxwell D.
        • Yau S.C.
        Fertility in a male with trisomy 21.
        J Med Genet. 1992; 29: 141
        • Sheridan R.
        • Llerena Jr, J.
        • Matkins S.
        • Debenham P.
        • Cawood A.
        • Bobrow M.
        Fertility in a male with trisomy 21.
        J Med Genet. 1989; 26: 294-298
        • Hojager B.
        • Peters H.
        • Byskov A.G.
        • Faber M.
        Follicular development in ovaries of children with Down’s syndrome.
        Acta Paediatr Scand. 1978; 67: 637-643
        • Campbell W.A.
        • Lowther J.
        • McKenzie I.
        • Price W.H.
        Serum gonadotrophins in Down’s syndrome.
        J Med Genet. 1982; 19: 98-99
        • Johannisson R.
        • Gropp A.
        • Winking H.
        • Coerdt W.
        • Rehder H.
        • Schwinger E.
        Down’s syndrome in the male.
        Hum Genet. 1983; 63: 132-138
        • Stearns P.E.
        • Droulard K.E.
        • Sahhar F.H.
        Studies bearing on fertility of male and female mongoloids.
        Am J Ment Defic. 1960; 65: 37-41
        • Horan R.F.
        • Beitins I.Z.
        • Bode H.H.
        LH-RH testing in men with Down’s syndrome.
        Acta Endocrinol (Copenh). 1978; 88: 594-600
        • Hasen J.
        • Boyar R.M.
        • Shapiro L.R.
        Gonadal function in trisomy 21.
        Horm Res. 1980; 12: 345-350
      1. Pueschel SM, Orson JM, Boylan JM, Pezzullo JC. Adolescent development in males with Down syndrome. Am J Dis Child 198;139:236–8.

        • Salvadorini F.
        • Saba P.
        • Galeone F.
        • Tognetti G.
        • Carnicelli A.
        • Busoni C.A.
        [Studies of the dynamics of anterior pituitary gonadotropic activity in the Langdon-Down syndrome].
        Acta Neurol (Napoli). 1975; 30: 78-83
        • Jagiello G.
        Reproduction in Down syndrome.
        in: de la Cruzz F.F. Gerald P.S. Trisomy 21 (Down syndrome). University Park Press, Baltimore1981: 152
        • Hsiang Y.H.
        • Berkovitz G.D.
        • Bland G.L.
        • Migeon C.J.
        • Warren A.C.
        Gonadal function in patients with Down syndrome.
        Am J Med Genet. 1987; 27: 449-458
        • Arnell H.
        • Gustafsson J.
        • Ivarsson S.A.
        • Anneren G.
        Growth and pubertal development in Down syndrome.
        Acta Paediatr. 1996; 85: 1102-1106