PMID- 15665007
OWN - NLM
STAT- MEDLINE
DCOM- 20050831
LR  - 20050422
IS  - 0268-1161 (Print)
IS  - 0268-1161 (Linking)
VI  - 20
IP  - 5
DP  - 2005 May
TI  - Mosaic status in lymphocytes of infertile men with or without Klinefelter 
      syndrome.
PG  - 1248-55
AB  - BACKGROUND: Gonosomal aneuploidies such as Klinefelter syndrome (47,XXY) are the 
      most frequent chromosomal aberration in infertile men. Normally the chromosomal 
      status of patients is detected by karyotyping of up to 20 metaphase spreads of 
      lymphocyte nuclei, whereby low grade mosaicism may be overlooked. To test whether 
      Klinefelter patients with 47,XXY karyotype or infertile men with 46,XY karyotype 
      represent gonosomal mosaicisms, we performed meta- and interphase fluorescence in 
      situ hybridization (FISH) on 45 men. METHODS AND RESULTS: A total of 400 
      interphase and 40 metaphase lymphocyte nuclei per patient were scored after 
      hybridization with DNA probes specific for chromosomes X and Y, and chromosome 9 
      as a control. On the basis of conventional karyotype, hormone levels and clinical 
      appearance, patients were subdivided into 18 Klinefelter syndrome patients with 
      47,XXY (group I), 11 Klinefelter syndrome-like patients with normal karyotype, 
      46,XY (group II) and six non-Klinefelter-like infertile patients with normal 
      46,XY karyotype (group III). Ten normal men (group IV) served as controls. 
      Testicular volume in the Klinefelter group I was smaller compared with group II 
      (P = 0.016), group III (P < 0.001) and group IV (P < 0.001). In addition, 
      testicular volumes in group II were lower compared with group III and group IV (P 
      < 0.004). No significant differences between the aneuploidy rate analysed by FISH 
      in interphase nuclei and metaphases were found in either single patients or 
      groups. Patients with Klinefelter syndrome, 47,XXY (group I) or with symptoms 
      similar to those in Klinefelter patients 46,XY (group II) showed a similar 
      aneuploidy rate (group I 7.1 +/- 4.0% and group II 4.6 +/- 3.4%) and two 47,XXY 
      patients with a high prevalence for normal 46,XY lymphocytes had sperm in their 
      ejaculate. However, in general, no correlations between FISH mosaic status and 
      serum hormone parameters, nor with ejaculate parameters were found. CONCLUSIONS: 
      The results suggest that 47,XXY patients with an increased incidence of XY cells 
      (average of 4.2 +/- 2.3) may have a higher probability of germ cells as we found 
      sperm only in the ejaculate of Klinefelter syndrome patients with mosaic 46,XY 
      cells (6.0 and 7.0%). On the other hand, 46,XY patients with mosaic sex 
      chromosome aneuploidies detected by FISH analysis more often show symptoms of 
      hypogonadism phenotypically resembling Klinefelter syndrome.
FAU - Lenz, P
AU  - Lenz P
AD  - Institute of Reproductive Medicine and Institute of Human Genetics, Westphalian 
      Wilhelms-University, Munster, Germany.
FAU - Luetjens, C M
AU  - Luetjens CM
FAU - Kamischke, A
AU  - Kamischke A
FAU - Kuhnert, B
AU  - Kuhnert B
FAU - Kennerknecht, I
AU  - Kennerknecht I
FAU - Nieschlag, E
AU  - Nieschlag E
LA  - eng
PT  - Journal Article
DEP - 20050121
PL  - England
TA  - Hum Reprod
JT  - Human reproduction (Oxford, England)
JID - 8701199
RN  - 0 (Hormones)
SB  - IM
MH  - Adult
MH  - Aneuploidy
MH  - Hormones/blood
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infertility, Male/etiology/*genetics/pathology
MH  - Karyotyping
MH  - Klinefelter Syndrome/complications/*genetics/pathology
MH  - Lymphocytes/*physiology
MH  - Male
MH  - *Mosaicism
MH  - Oligospermia/genetics/pathology
MH  - Semen
MH  - Spermatozoa/pathology
EDAT- 2005/01/25 09:00
MHDA- 2005/09/01 09:00
CRDT- 2005/01/25 09:00
PHST- 2005/01/25 09:00 [pubmed]
PHST- 2005/09/01 09:00 [medline]
PHST- 2005/01/25 09:00 [entrez]
AID - deh745 [pii]
AID - 10.1093/humrep/deh745 [doi]
PST - ppublish
SO  - Hum Reprod. 2005 May;20(5):1248-55. doi: 10.1093/humrep/deh745. Epub 2005 Jan 21.