Molecular screening of the CFTR gene in Mexican patients with congenital absence of the vas deferens.

BACKGROUND: In several populations CFTR mutations, as well as IVS8-Tn CFTR polymorphism, have been associated with congenital bilateral absence of the vas deferens (CBAVD) and idiopathic obstructive azoospermia diseases. However, the involvement of these mutations in infertility of Mexican males has not been elucidated. AIMS: We investigated whether CFTR mutations and IVS8-Tn(TG)m polymorphisms are associated with infertility in azoospermic Mexican patients. METHODS: Sixteen CBAVD and 33 idiopathic azoospermic cases were included. The CFTR gene was sequenced in all CBAVD cases. In the idiopathic azoospermic patients, the p.F508del, p.G542X, p.N1303K, p.S549N, p.I507del, and p.R117H mutations and those detected in our CBAVD cases were screened. RESULTS: The p.F508del, p.G85E, p.D1152H, and p.W1089X mutations were found in 3 CBAVD patients (18.8%). None of the 9 CFTR mutations screened for in idiopathic azoospermic were found; however, we documented a high frequency of the Gln1463Gln polymorphism in comparison with healthy controls (20% vs 6%; p=0.0029). CONCLUSIONS: These data showed that the CFTR mutations but not the IVS8-Tn polymorphism are involved in CBAVD etiology in a Mexican population. Nevertheless, other screening strategies should be used to rule out the implication of CFTR mutations in idiopathic azoospermic disease.

[Changes in a semen analysis related to spontaneous pregnancy in patients with infertility history]. / Cambios seminales relacionados con embarazo espontáneo en pacientes con antecedente de infertilidad.

OBJECTIVE: To describe changes in a semen analysis before getting a spontaneous pregnancy. MATERIAL AND METHODS: In an observational, descriptive, longitudinal and retrospective study a semen analysis of the first evaluation of 96 patients was compared with the exam accomplished before getting a spontaneous pregnancy. A descriptive analysis of the semen exam was performed and the results of both exams were compared by means of at Student test with statistical significance for p < 0.05. RESULTS: In the first analysis, the volume, density, mobility, normal morphology, total number of mobile cells and total number of mobile cells with normal morphology (TNMCNM) were 2.45 +/- 1.39 mL, 79 +/- 43 million/mL, 40 +/- 21%, 27 +/- 14%, 84 +/- 84 million and 23 +/- 29 million, respectively, and in the final analysis were 2.6 +/- 1.26 mL, 79 +/- 42 million/mL, 43 +/- 21%, 28 +/- 14%, 97 +/- 98 million and 28 +/- 33 million, respectively. None of them were different. In four patients with low testosterone and a LH/FS > or = 1 ratio, volume increased from 1 +/- 0.31 to 1.65 +/- 0.17 mL and normal morphology from 22 +/- 7 to 31 +/- 5. Both variables were different. In six patients with high prolactine and low testosterone or low FSH, density increased from 56 +/- 21 to 114 +/- 18 million/mL and TNMCNM from 14 +/- 12 to 46 +/- 32 million. Both variables were different. CONCLUSION: Only those patients with low testosterone and a LH/FSH > or = 1 rate had an increase of semen volume and normal morphology. Those with high prolactine-low testosterone or high prolactine-low FSH had an increase of the total mobile cells and the total mobile cells with normal morphology. There were not changes in any semen variable of the other patients.

Efecto de la albúmina humana en la movilidad y viabilidad espermática de muestras seminales preparadas para inseminación intrauterina / Effect of the human albumine in the spermatic mobility and viability inseminal samples for intrauterine isemination

Objetivo: Analizar el efecto de la albúmina humana sobre la viabilidad espermática. Material y métodos: Se procesaron por el método de swim-up 15 muestras de semen de sujetos sanos con semen normal (criterios de la OMS) utilizando HTF y HTF con albúmina humana al 10 por ciento, en alícuotas de la misma muestra. Al final de la preparación y a las 24 horas se midieron los parámetros de movilidad espermática utilizando el analizador automático Hamilton-Thorn IVOS 2000. Como medida de viabilidad se utilizó el índice de movilidad. Resultados: La velocidad en línea recta (VSL) disminuyó de 17.14 ñ 5.77 um/seg. (media ñ D.E.) a 12.21 ñ 3.86 um/seg, y 12.14 ñ 3.13 um/seg, en las muestras procesadas con y sin albúmina, respectivamente. A 24 horas de la preparación seminal, el IM disminuyó 11.41 por ciento en las muestras preparadas con albúmina y 21.75 por ciento en las muestras seminales que se prepararon con HTF sin albúmina (z = 1.88, p = 0.05). Los valores de la prueba hiposmótica obtenidos con el medio sin albúmina, fueron de 88.85 por ciento ñ 6.90 por ciento y con albúmina de 91.92 por ciento ñ 4.55 por ciento (p = 0.02). La integridad acrosomal también fue mayor en las muestras que se prepararon con albúmina (86.14 por ciento ñ 3.08 por ciento vs. 81.57 por ciento ñ 2.53 por ciento; p < 0.01). Conclusiones: Estos datos sugieren que la albúmina humana en el medio de preparación seminal, protege funcionalmente a los espermatozoides separados por swim-up y aumenta su sobrevida.