Disruption of the SLC26A3-mediated anion transport is associated with male subfertility.
Male subfertility in congenital chloride diarrhea (CLD) was possible after identification of expression of an epithelial Cl-/HCO3- exchanger SLC26A3 in the male reproductive tract and by the observation that adult men with CLD had very few children. A prospective clinical and laboratory study among eight adult Finnish men with CLD revealed constant oligoasthenoteratozoospermia but normal spermatogenesis, high chloride and low pH in seminal plasma, and three spermatoceles, suggesting that male subfertility is a clinical manifestation of CLD and could be caused by an analogous defect in the epithelial Cl-/HCO3- and water transport, as described for the CLD intestine.
Höglund
Pia
P
Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland. Pia.Hoglund@Helsinki.Fi
Hihnala
Satu
S
Kujala
Minna
M
Tiitinen
Aila
A
Dunkel
Leo
L
Holmberg
Christer
C
D000293:Adolescent; D000328:Adult; D017920:Antiporters / Q000235:genetics* / Q000378:metabolism*; D001639:Bicarbonates / Q000378:metabolism; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides / Q000378:metabolism; D003967:Diarrhea / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000378:metabolism*; D007413:Intestinal Mucosa / Q000378:metabolism; D008297:Male; D012661:Semen / Q000378:metabolism; D000076988:Sulfate Transporters; D014883:Water-Electrolyte Imbalance / Q000235:genetics / Q000378:metabolism
D017920:Antiporters; D001639:Bicarbonates; D027963:Chloride-Bicarbonate Antiporters; D002712:Chlorides; C081011:SLC26A3 protein, human; D000076988:Sulfate Transporters