PMID- 16009167
OWN - NLM
STAT- MEDLINE
DCOM- 20051227
LR  - 20061115
IS  - 1556-5653 (Electronic)
IS  - 0015-0282 (Linking)
VI  - 84
IP  - 1
DP  - 2005 Jul
TI  - Fluorescence in situ hybridization and molecular studies in infertile men with 
      dysplasia of the fibrous sheath.
PG  - 123-9
AB  - OBJECTIVE: To perform fluorescence in situ hybridization (FISH) and molecular 
      analysis in patients with the genetic sperm defect "dysplasia of the fibrous 
      sheath" (DFS). DESIGN: Retrospective study. SETTING: Regional Referral Center for 
      Male Infertility, Siena, Italy. PATIENT(S): Twelve infertile patients with DFS 
      sperm defects. INTERVENTION(S): Family history, lymphocytic karyotype, physical 
      and hormonal assays, semen analysis. MAIN OUTCOME MEASURE(S): The DFS sperm 
      phenotype was defined by light, fluorescent, and electron microscopy. Sperm 
      chromosomal constitution was examined by FISH. Gene deletions were tested by 
      polymerase chain reaction. RESULT(S): The genetic sperm defect DFS was determined 
      by transmission and scanning electron microscopy. Immunofluorescence staining of 
      A-kinase anchoring protein 4 (AKAP4) showed a moderate and diffuse signal, 
      revealing a disorganized and incompletely assembled fibrous sheath. In 11 of 12 
      DFS patients, polymerase chain reaction for detecting the presence of partial 
      sequence of AKAP4/AKAP3 binding regions gave positive results. Fluorescence in 
      situ hybridization was performed in decondensed sperm nuclei with probes for 
      chromosomes 18, X, and Y. The mean disomy frequency of chromosome 18 was in the 
      normal range, whereas the mean disomy frequencies of sex chromosomes and 
      diploidies were twice those of controls. CONCLUSION(S): These results should be 
      considered when DFS sperm are used in assisted reproductive technology, owing to 
      the high risk of transmission of chromosomal unbalance and of DFS sperm defects 
      to male offspring.
FAU - Baccetti, Baccio
AU  - Baccetti B
AD  - Department of Pediatrics, Obstetrics and Reproductive Medicine, Siena University, 
      Regional Referral Center for Male Infertility, Azienda Ospedaliera Universitaria 
      Senese, Siena, Italy. baccetti@unisi.it
FAU - Collodel, Giulia
AU  - Collodel G
FAU - Gambera, Laura
AU  - Gambera L
FAU - Moretti, Elena
AU  - Moretti E
FAU - Serafini, Francesca
AU  - Serafini F
FAU - Piomboni, Paola
AU  - Piomboni P
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Fertil Steril
JT  - Fertility and sterility
JID - 0372772
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Chromosomes, Human, X/genetics
MH  - Chromosomes, Human, Y/genetics
MH  - Diploidy
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infertility, Male/*genetics/*pathology
MH  - Male
MH  - Retrospective Studies
MH  - Spermatozoa/*pathology/*physiology/ultrastructure
EDAT- 2005/07/13 09:00
MHDA- 2005/12/28 09:00
CRDT- 2005/07/13 09:00
PHST- 2004/07/20 00:00 [received]
PHST- 2005/01/10 00:00 [revised]
PHST- 2005/01/10 00:00 [accepted]
PHST- 2005/07/13 09:00 [pubmed]
PHST- 2005/12/28 09:00 [medline]
PHST- 2005/07/13 09:00 [entrez]
AID - S0015-0282(05)00670-9 [pii]
AID - 10.1016/j.fertnstert.2005.01.128 [doi]
PST - ppublish
SO  - Fertil Steril. 2005 Jul;84(1):123-9. doi: 10.1016/j.fertnstert.2005.01.128.