RESUMO
Objective@#To explore the relationship between the clinical and genetic features of a short-statured azoospermia male with the karyotype of 45,X.@*METHODS@#Using GTG-banded chromosome analysis, we performed karyotyping for a 150 cm-high infertile male with azoospermia and investigated the presence and location of the genes on the Y chromosome by FISH and PCR.@*RESULTS@#GTG-banded chromosome analysis showed the karyotype of the patient to be 45,X,add(14)(p11). The results of PCR manifested the deletion of AZFa, AZFb, AZFc, and AZFd in the SRY gene. FISH revealed the translocation of the short arm of the Y chromosome to that of chromosome 14 and deletion of most proportions of its long arm, with the disruption site close to the centromere region. The karyotype of the patient was 45,X,der(Y)t(Y;14)(q11;q11.2), 14.ish (SRY+, CEP Y+ , DYZ1－).@*CONCLUSIONS@#The karyotype of the patient was unbalanced Y/14 translocation. The SRY gene is the key to maleness. The deletion of AZFa－ d induces spermatogenic disturbance, and the deletion of the q arm of the Y chromosome may be related with short stature.
Assuntos
Humanos , Masculino , Azoospermia , Genética , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 14 , Genética , Cromossomos Humanos Y , Genética , Disgenesia Gonadal , Genética , Infertilidade Masculina , Genética , Cariotipagem , Métodos , Reação em Cadeia da Polimerase , Fatores de Transcrição SOXB1 , Genética , Translocação Genética , GenéticaRESUMO
<p><b>OBJECTIVE</b>To evaluate the diagnosis and surgical treatment of obstructive azoospermia.</p><p><b>METHODS</b>We analyzed the clinical data of 56 cases of obstructive azoospermia, 43 of them with ejaculatory duct obstruction (EDO), and the other 13 suspected of epididymal obstruction. The diagnostic methods included semen analyses, measurement of fructose and neutral alpha-glucosidase in the seminal plasma, transrectal ultrasonography (TRUS), and vasography when necessary. The 43 patients with EDO were treated by transurethral resection of the ejaculatory duct (TURED), and 11 of the 13 cases of suspected epididymal obstruction were confirmed by scrotal exploration and underwent either bilateral or unilateral vasoepididymostomy. The patients were followed up for 3 -51 months for postoperative semen quality and impregnation.</p><p><b>RESULTS</b>Of the 43 azoospermia patients with EDO treated by TURED, 36 (83.7%) showed improved semen parameters and 11 (25.6%) achieved pregnancies. Among the 11 cases of azoospermia with confirmed epididymal obstruction treated by vasoepididymostomy, 6 (54.5%) had sperm in the semen assay and 3 (27.3%) achieved pregnancies.</p><p><b>CONCLUSION</b>Semen analyses, measurement of fructose and neutral alpha-glucosidase in the seminal plasma, TRUS and vasography are important diagnostic methods for obstructive azoospermia. TURED is effective for azoospermia with EDO, while vasoepididymostomy is preferable for the treatment of azoospermia with epididymal obstruction.</p>