Biomedical subjects
Publications and source records attributed to J Más.
The extragonadal germ cell tumours represent 1-2% out of all the germ cell tumors. The retroperitoneal and the mediastinic spaces are the most common localizations. Visceral localizations are very infrequent. We present a case, the first described in literature, of immature teratoma of the uterine cervix in a 13 year old girl.
We studied 19 male patients with primary hyperlipoproteinaemia, a control group of 28 healthy men and 44 infertile males before any treatment was undertaken. Spermiogram, seminal biochemical studies, measurements of plasma hormone levels and lipid determinations were carried out. Most hyperlipoproteinaemic patients showed abnormalities in the spermiograms and the mean values were lower than in the controls except for semen volume. Seminal biochemical determinations were normal in the majority and the hormone profile showed some abnormal values, mainly for E2. Lipid abnormalities were more common in azoospermic infertile men and mean lipid levels were higher. Correlation studies suggest that high levels of C and/or Tg are associated with poor semen quality and higher FSH levels. The results of our studies suggest that high lipid levels exert adverse direct effects at the testicular level.
The red blood cell esterase D (ESD) polymorphism was studied by means of IEF in a North-East Spanish population (Barcelona). Gene frequencies in 430 unrelated individuals were ESD*1: 0.888, ESD*2: 0.091 and ESD*5: 0.021. Our data confirm previous results showing that ESD*5 occurs in polymorphic frequency and has a Caucasian origin.
Blood samples from two Catalonian populations (North-East of Spain) were analysed for glyoxalase (GLO) I polymorphism. Gene frequencies of GLO1 (0.46 and 0.41) are comparable to those reported for Central-European Caucasoid populations.
Two brothers with bilateral vas deferens agenesis are described, one of them with a chromosome mosaicism (46,XX/47,XXY). To our knowledge, there are not any previous reports of both conditions existing simultaneously. The patients consulted us because of infertility; they have normal sexual function, normal physical examination, but typical semen analyses with azoospermia, low semen volume, low pH, and negative fructose test. It appears to us that bilateral vas deferens agenesis may be genetic in origin in some patients.