ABCMdb

PMID: 15533383

Fedder J, Cruger D, Oestergaard B, Petersen GB
Etiology of azoospermia in 100 consecutive nonvasectomized men.
Fertil Steril. 2004 Nov;82(5):1463-5., [PubMed]

Sentences

No. Mutations Sentence Comment

29 ABCC7 p.Arg117His We analyzed for the following CFTR mutations: ⌬F508 (exon 10), 394delTT (exon 3), R117H (exon 4), and IVS8-5T (intron 8) (4). Login to comment 60 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His Among the 28 patients with OA, 12 had at least one CFTR mutation. Two men were found to have a ⌬F508 mutation, and four were found to have a R117H mutation. Two were compound heterozygotes carrying both a ⌬508 and an R117H mutation and one carrying a 394delTT and an R117H mutation. Two men had an IVS8-5T mutation. Login to comment 70 ABCC7 p.Arg117His Main group Specific etiology (subgroup) No. of patients in each subgroup (% of the main group) No. of patients with a history of cryptorchidism (% of the subgroup) Nonobstructive azoospermia Klinefelter`s syndrome (XXY) 6 (8) 1 (17) 46,XX karyotype/15,21 translocation 2 (3) 0 Y microdeletion/deletion 9 (13) 1 (11) Parotitis/orchitis/torsio testis/anabolic steroids 5 (7) 0 Hodgkin lymphoma/chemotherapy/radiotherapy 5 (7) 0 Unexplained 45 (63) 27 (60) Obstructive azoospermia CF-carriera (⌬F508, R117H, 284delA, IVS8-5T) 12 (43) 3 (25) Embryological cause (utricular cyst, malformation) 2 (7) 0 Epididymitis (Chlamydia trachomatis) 5 (18) 0 Surgical cause 2 (7) 0 Trauma (traffic accident, torture, accidental shot) 3 (11) 0 Unexplained 4 (14) 0 a Carrier of at least one mutation in the cystic fibrosis gene; two of these men also showed Sertoli cell-only syndrome in addition to absence of vasa deferentia. Login to comment