Fertil Steril 86 (6): 1765 (2006 Dec)

Fertility in men with Down syndrome: A case report

Pradhan M, Dalal A, Khan F, Agrawal S.
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

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.
Clin Genet 46 (4): 324-6 (1994 Oct)

Down syndrome and male fertility: PCR-derived fingerprinting, serological and andrological investigations

Zuhlke C, Thies U, Braulke I, Reis A, Schirren C.
Institut fur Humangenetik, Universitat Gottingen, Germany

Down syndrome, the most common birth defect causing mental retardation, is characterized by a specific phenotype including subfertility or sterility and hypogonadism in males. In contrast, several females with Down syndrome have borne offspring. Here, a male with trisomy 21 fathering an infant is described. This observation is verified by serological markers, DNA fingerprinting using different DNA micro- or minisatellites and andrological investigations.
Journal of Medical Genetics 26 (5): 294-8 (1989 May)

Fertility in a male with trisomy 21

Richard Sheridan, Juan Llerena Jr, Sally Matkins, Paul Debenham, Andrew Cawood, Martin Bobrow
Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London

We review the published reports on reproduction in cases of non-mosaic trisomy 21 (Down's syndrome) and present the first fully documented case of a non-mosaic male with Down's syndrome fathering a pregnancy, a fact which has important implications in the light of caring for these people in the community.
Postgrad Med 84 (5): 302-3 (1988 Oct)

Male fertility and the undescended testis in Down syndrome. How to counsel parents

Thompson IM, Thompson DD.
Genitourinary Oncology, Memorial Sloan-Kettering Cancer Center, New York

Evaluation of fertility in male patients with Down syndrome has generally revealed poor psychosexual adaptation and markedly abnormal semen quality, which have thus far been uniformly associated with sterility. Up to 50% of male patients with Down syndrome have undescended testes. Life-table analysis of survival among patients with Down syndrome, as well as the low incidence of testicular tumors, would suggest that orchidopexy may be unnecessary in some patients. In most patients, however, orchidopexy is appropriate to allow for subsequent testicular examination. Parents of children with Down syndrome must be appropriately counseled regarding the fertility of their children and the treatment options for cryptorchidism.
Hum Genet 63 (2): 132-8 (1983)

Down's syndrome in the male. Reproductive pathology and meiotic studies.

Johannisson R, Gropp A, Winking H, Coerdt W, Rehder H, Schwinger E.
Genitourinary Oncology, Memorial Sloan-Kettering Cancer Center, New York

Studies on testicular histology and meiosis were carried out by the use of light and electron microscopy in an 18-year-old Down's syndrome male in an attempt to follow the fate of the extra chromosome 21 and to evaluate the effects of this condition on spermatogenesis and the reproductive functions. The histological changes in the testes corresponded to spermatogenic arrest. Electron microscopic whole-mount spreadings of meiotic cells in the pachytene stage showed that in most nuclei an extra chromosome 21 was not detectable. Only in a small number of nuclei, univalents or trivalents with segmental pairing structures of an extra chromosome could be discovered. In contrast, the great majority of (C-banded) diakinesis figures showed the presence of a supernumerary G (no. 21) chromosome. The absence of a traceable extra chromosome 21 in most pachytene cells is explained by the assumption that it is intimately connected with and hidden in the sex vesicle, whose complex structure does not allow the identification of single elements. Strong support for this assumption is seen (a) in the general tendency of narrow spatial association of unpaired segments with the XY complex and (b) in close structural similarities occurring between univalents or nonsynapsed segments of trivalents and the nonpaired segments of the sex chromosomes. It is suggested that the association or connection of an extra chromosome with the XY complex during pachytene interferes with the phenomenon of X inactivation. In animal systems such abnormal interference is related with spermatogenic breakdown and, in a general way, with male hybrid type sterility. So far, the range of sterility vs. fertility in cases of male Down's syndrome is not yet fully clear, but it appears that impairment of fertility, and sterility are most frequent. If so, it is proposed that the effect of the trisomy 21 condition on spermatogenesis (and fertility) is a consequence of the behavior of the extra chromosome in the meiotic prophase.