What is the role of reproductive genetic counseling in the management of Klinefelter syndrome?

Updated: Mar 23, 2020
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Sperm from patients with presumptive nonmosaic 47,XXY karyotype have been used successfully in medically assisted reproduction. However, the origin of meiotic products of men with the nonmosaic 47,XXY karyotype remains unclear. Mosaicism cannot be excluded in the nonmosaic 47,XXY karyotype. [48]  The presence of a normal XY germ cell line in the testis could explain the production of normal haploid sperm in these apparently nonmosaic patients. Nevertheless, peripheral lymphocyte karyotyping neither predicts the chromosomal constitution of the testis cells nor the presence or absence of spermatogenesis. [49]

ICSI is associated with an increased risk of producing a chromosome anomaly in offspring. [50] IVF is also associated with an increased risk for de-novo chromosomal aberrations, especially those involving the sex chromosomes. [51, 52]

Reproductive genetic counseling of patients with the 47,XXY karyotype remains difficult. Some authors have recommended preimplantation or prenatal diagnosis after ICSI using sperm cells from patients with the 47,XXY karyotype. [53, 54, 55, 56] Arguments from authors who propose a preimplantation genetic diagnosis (PGD) include the increased risk of producing sex chromosomal–abnormal offspring (the unbalanced offsprings are 47,XXX or 47,XXY karyotypes). [57, 58, 59, 60, 56]

The genetic risk in the offspring of patients with 47,XXY karyotype remains unknown but is presumably low. This risk concerns sex chromosomal and autosomal aneuploidy. Genetic counseling should be reassuring, and management of the pregnancy should proceed with caution. [61]

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