Meiotic arrest at the midpachytene stage in a patient with complete azoospermia factor b deletion of the Y chromosome.
OBJECTIVE
To study the meiosis of a patient with complete azoospermia factor (AZF)b deletion of the Y chromosome.


METHODS
Case report.


METHODS
La Conception University Hospital, Marseille, France.


METHODS
One azoospermic patient.


METHODS
Yq deletion testing, testicular sperm extraction, and meiotic study with immunocytochemistry.


METHODS
Abnormal synapsis rates in spermatocytes.


RESULTS
We found that most spermatocytes were at an early stage of meiosis. Half of the meiotic germ cells analyzed showed asynapsis, which was mostly extended or total. Discontinuity in the synaptonemal complex was seen in one third of the meiotic cells analyzed. An unusually small number of normal pachytene nuclei were found, all at early pachytene substages.


CONCLUSIONS
This is the first demonstration that the synaptic process is impaired in a man with complete deletion of the AZFb interval. Our findings provide evidence that the pachytene checkpoint is situated at the midpachytene substage in humans.
Perrin
Jeanne
J
Laboratoire de Biologie de la Reproduction, Assistance Publique of Marseille (AP-HM) La Conception, Marseille, France.
Metzler-Guillemain
Catherine
C
Karsenty
Gilles
G
Grillo
Jean-Marie
JM
Mitchell
Michael J
MJ
Guichaoua
Marie-Roberte
MR
D000328:Adult; D041322:Chromosomes, Human, Y; D017353:Gene Deletion; D056426:Genetic Loci; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008540:Meiosis; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology*; D029589:Seminal Plasma Proteins / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D013094:Spermatozoa / Q000473:pathology
D029589:Seminal Plasma Proteins