title: [Genetic investigation required in male infertility].
abstract: Four men aged 38, 31, 27 and 35 years were examined because of infertility. The first three had idiopathic oligozoospermia, the other bilateral ductus deferens agenesis. They were referred for intracytoplasmic sperm injection (ICSI). Clinical genetic investigation including thorough family history, chromosome investigation and molecular DNA investigation revealed that one patient had mosaicism for Klinefelter syndrome (46,XY/47,XXY), the second a familial balanced translocation (46,XY,t(4;16)) and the third a microdeletion in the AZFc region of the Y chromosome, while the fourth was homozygous for a cystic fibrosis mutation. In view of new fertilisation techniques such as ICSI, clinical genetic investigation is of great importance. It is not known whether these new techniques facilitate transmission of genetic disorders. Long-term follow-up of children conceived by ICSI is required.
authors.affiliation: Afd. Antropogenetica, Academisch Ziekenhuis, Nijmegen.
authors.forename: J H
authors.initials: JH
authors.lastname: Tuerlings
authors.forename: J A
authors.initials: JA
authors.lastname: Kremer
authors.forename: E J
authors.initials: EJ
authors.lastname: Meuleman
mesh_terms: D000328:Adult; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000175:diagnosis / Q000235:genetics; D014649:Vas Deferens / Q000002:abnormalities