This study focused on the behavioral and cytogenetic aspects of Turner's syndrome. We eva... more This study focused on the behavioral and cytogenetic aspects of Turner's syndrome. We evaluated the behavioral scores by ESPQ, HSPQ, and TAMAI tests. In the cytogenetic study, six different variables were defined by a chromosome image analysis computer system (Applied Imagine) that assessed changes in band organization and the measurement of mean optical density (MOD) in six G-bands (Xp21, Xq12, Xq21, Xq23, Xq25, Xq27). We studied 33 females with Turner's syndrome and compared them with 30 females individually matched for normal karyotype, short stature, age, and education. Significant differences were found between the two groups.
Dicentric X chromosomes of different derivations were present in 6 out of a total of 42 patients ... more Dicentric X chromosomes of different derivations were present in 6 out of a total of 42 patients with Turner's syndrome. The most unusual cases were observed in 2 patients having a psu dic(X)(Xpter-Xq21::Xq21-Xpter) in mosaic form who were examined by fluorescence in situ hybridization. Alu-PCR products from hybrid cell lines were used as partial chromosome paints for the p arm of the human X chromosomes. The other 4 patients displayed isodicentric idic(Xq) in mosaic form. One of the patients displayed 9 cell lines originating from the accumulation of isodicentric idic(Xq) chromosomes, along with loss of chromosome material which resulted in fragments of varying size.
... y 13) Sexo y aprendizaje espacial. ... Parte VI: Evolución, cerebro y mente: 18) La evolución... more ... y 13) Sexo y aprendizaje espacial. ... Parte VI: Evolución, cerebro y mente: 18) La evolución del cerebro y de la cognición en los vertebrados: nuevos datos, nuevas perspectivas; 19) ¿Qué es la mente? ¿Cómo surgió? ¿Cómo nos hace inteligentes y sociales? ...
The A2 allele of the CYP17 MspA1 polymorphism has been linked to higher levels of serum testoster... more The A2 allele of the CYP17 MspA1 polymorphism has been linked to higher levels of serum testosterone, progesterone, and estradiol. To determine whether the CYP17 MspA1 polymorphism is associated with transsexualism. We analyzed 151 male-to-female (MtF), 142 female-to-male (FtM), 167 control male, and 168 control female individuals. Fragments that included the mutation were amplified by PCR and digested with MspA1. Our data were compared with the allele/genotype frequencies provided by the 1000 Genomes Data Base, and contrasted with a MEDLINE search of the CYP17 MspA1 polymorphism in the literature. We investigated the association between transsexualism and the CYP17 MspA1 polymorphism. A2 frequency was higher in the FtM (0.45) than the female control (0.38) and male control (0.39) groups, or the MtF group (0.36). This FtM > MtF pattern reached statistical significance (P = 0.041), although allele frequencies were not gender specific in the general population (P = 0.887). This observation concurred with the 1000 Genomes Data Base and the MEDLINE search. Our data confirm a sex-dependent allele distribution of the CYP17 MspA1 polymorphism in the transsexual population, FtM > MtF, suggestive of a hypothetical A2 involvement in transsexualism since the allele frequencies in the general population seem to be clearly related to geographic origin and ethnic background, but not sex. Fernández R, Cortés-Cortés J, Esteva I, Gómez-Gil E, Almaraz MC, Lema E, Rumbo T, Haro-Mora J-J, Roda E, Guillamón A, and Pásaro E. The CYP17 MspA1 polymorphism and gender dysphoria. J Sex Med 2015;12:1329-1333.
Transsexualism is a gender identity disorder with a multifactorial etiology. Neurodevelopmental p... more Transsexualism is a gender identity disorder with a multifactorial etiology. Neurodevelopmental processes and genetic factors seem to be implicated. The aim of this study was to investigate the possible influence of the sex hormone-related genes ERβ (estrogen receptor β), AR (androgen receptor), and CYP19A1 (aromatase) in the etiology of female-to-male (FtM) transsexualism. In 273 FtMs and 371 control females, we carried out a molecular analysis of three variable regions: the CA repeats in intron 5 of ERβ; the CAG repeats in exon 1 of AR, and the TTTA repeats in intron 4 of CYP19A1. We investigated the possible influence of genotype on transsexualism by performing a molecular analysis of the variable regions of genes ERβ, AR, and CYP19A1 in 644 individuals (FtMs and control females). FtMs differed significantly from control group with respect to the median repeat length polymorphism ERβ (P = 0.002) but not with respect to the length of the other two studied polymorphisms. The repeat numbers in ERβ were significantly higher in FtMs than in control group, and the likelihood of developing transsexualism was higher (odds ratio: 2.001 [1.15-3.46]) in the subjects with the genotype homozygous for long alleles. There is an association between the ERβ gene and FtM transsexualism. Our data support the finding that ERβ function is directly proportional to the size of the analyzed polymorphism, so a greater number of repeats implies greater transcription activation, possibly by increasing the function of the complex hormone ERβ receptor and thereby encouraging less feminization or a defeminization of the female brain and behavior.
This study focused on the behavioral and cytogenetic aspects of Turner's syndrome. We eva... more This study focused on the behavioral and cytogenetic aspects of Turner's syndrome. We evaluated the behavioral scores by ESPQ, HSPQ, and TAMAI tests. In the cytogenetic study, six different variables were defined by a chromosome image analysis computer system (Applied Imagine) that assessed changes in band organization and the measurement of mean optical density (MOD) in six G-bands (Xp21, Xq12, Xq21, Xq23, Xq25, Xq27). We studied 33 females with Turner's syndrome and compared them with 30 females individually matched for normal karyotype, short stature, age, and education. Significant differences were found between the two groups.
Dicentric X chromosomes of different derivations were present in 6 out of a total of 42 patients ... more Dicentric X chromosomes of different derivations were present in 6 out of a total of 42 patients with Turner's syndrome. The most unusual cases were observed in 2 patients having a psu dic(X)(Xpter-Xq21::Xq21-Xpter) in mosaic form who were examined by fluorescence in situ hybridization. Alu-PCR products from hybrid cell lines were used as partial chromosome paints for the p arm of the human X chromosomes. The other 4 patients displayed isodicentric idic(Xq) in mosaic form. One of the patients displayed 9 cell lines originating from the accumulation of isodicentric idic(Xq) chromosomes, along with loss of chromosome material which resulted in fragments of varying size.
... y 13) Sexo y aprendizaje espacial. ... Parte VI: Evolución, cerebro y mente: 18) La evolución... more ... y 13) Sexo y aprendizaje espacial. ... Parte VI: Evolución, cerebro y mente: 18) La evolución del cerebro y de la cognición en los vertebrados: nuevos datos, nuevas perspectivas; 19) ¿Qué es la mente? ¿Cómo surgió? ¿Cómo nos hace inteligentes y sociales? ...
The A2 allele of the CYP17 MspA1 polymorphism has been linked to higher levels of serum testoster... more The A2 allele of the CYP17 MspA1 polymorphism has been linked to higher levels of serum testosterone, progesterone, and estradiol. To determine whether the CYP17 MspA1 polymorphism is associated with transsexualism. We analyzed 151 male-to-female (MtF), 142 female-to-male (FtM), 167 control male, and 168 control female individuals. Fragments that included the mutation were amplified by PCR and digested with MspA1. Our data were compared with the allele/genotype frequencies provided by the 1000 Genomes Data Base, and contrasted with a MEDLINE search of the CYP17 MspA1 polymorphism in the literature. We investigated the association between transsexualism and the CYP17 MspA1 polymorphism. A2 frequency was higher in the FtM (0.45) than the female control (0.38) and male control (0.39) groups, or the MtF group (0.36). This FtM > MtF pattern reached statistical significance (P = 0.041), although allele frequencies were not gender specific in the general population (P = 0.887). This observation concurred with the 1000 Genomes Data Base and the MEDLINE search. Our data confirm a sex-dependent allele distribution of the CYP17 MspA1 polymorphism in the transsexual population, FtM > MtF, suggestive of a hypothetical A2 involvement in transsexualism since the allele frequencies in the general population seem to be clearly related to geographic origin and ethnic background, but not sex. Fernández R, Cortés-Cortés J, Esteva I, Gómez-Gil E, Almaraz MC, Lema E, Rumbo T, Haro-Mora J-J, Roda E, Guillamón A, and Pásaro E. The CYP17 MspA1 polymorphism and gender dysphoria. J Sex Med 2015;12:1329-1333.
Transsexualism is a gender identity disorder with a multifactorial etiology. Neurodevelopmental p... more Transsexualism is a gender identity disorder with a multifactorial etiology. Neurodevelopmental processes and genetic factors seem to be implicated. The aim of this study was to investigate the possible influence of the sex hormone-related genes ERβ (estrogen receptor β), AR (androgen receptor), and CYP19A1 (aromatase) in the etiology of female-to-male (FtM) transsexualism. In 273 FtMs and 371 control females, we carried out a molecular analysis of three variable regions: the CA repeats in intron 5 of ERβ; the CAG repeats in exon 1 of AR, and the TTTA repeats in intron 4 of CYP19A1. We investigated the possible influence of genotype on transsexualism by performing a molecular analysis of the variable regions of genes ERβ, AR, and CYP19A1 in 644 individuals (FtMs and control females). FtMs differed significantly from control group with respect to the median repeat length polymorphism ERβ (P = 0.002) but not with respect to the length of the other two studied polymorphisms. The repeat numbers in ERβ were significantly higher in FtMs than in control group, and the likelihood of developing transsexualism was higher (odds ratio: 2.001 [1.15-3.46]) in the subjects with the genotype homozygous for long alleles. There is an association between the ERβ gene and FtM transsexualism. Our data support the finding that ERβ function is directly proportional to the size of the analyzed polymorphism, so a greater number of repeats implies greater transcription activation, possibly by increasing the function of the complex hormone ERβ receptor and thereby encouraging less feminization or a defeminization of the female brain and behavior.
De todos los mamíferos, los bebés humanos son los que nacen con un sistema nervioso más inmaduro ... more De todos los mamíferos, los bebés humanos son los que nacen con un sistema nervioso más inmaduro y necesitan que sus padres se ocupen de ellos durante un periodo de tiempo mucho más largo. Si los padres no tienen la capacidad necesaria, solo el cuidado por otros animales de la manada, de la tribu, o de la familia en el caso del ser humano, puede evitar el deterioro del bebé o incluso su muerte.
Desde un punto de vista neurológico, el cerebro humano infantil es más vulnerable a la negligencia, a la desnutrición, a la desatención, a los malos tratos, que cualquier otra especie, pudiendo originar secuelas neurológicas que le afectarán en el futuro aprendizaje. Ello ocasiona que un elevado número de niños adoptados manifiesten problemas de aprendizaje en la escuela.
Por otro lado, la falta de una vinculación afectiva durante la primera etapa de vida de un niño supone un grave trauma para el desarrollo de su sistema nervioso, pudiendo provocar futuros problemas de aprendizaje que se pueden confundir con un trastorno de la atención con o sin hiperactividad.
Pero a pesar de la alta probabilidad de que estos problemas y modificaciones cerebrales estén presentes en los niños con historia de abusos, no todos los menores maltratados desarrollarán este tipo de dificultades, debido al papel de las diferencias individuales a nivel genético y a nivel neuronal, el papel de la epigenética, el papel de la plasticidad neuronal y por supuesto el papel de la resiliencia.
Transsexualism is a gender identity disorder with a multifactorial etiology. Neurodevelopmental p... more Transsexualism is a gender identity disorder with a multifactorial etiology. Neurodevelopmental processes and genetic factors seem to be implicated. The aim of this study was to investigate the association between the genotype and female-to-male (FtM) and male-to-female (MtF) transsexualism by performing a karyotype and molecular analysis of three variable regions of the genes ERβ (estrogen receptor β), AR (androgen receptor) and CYP19A1 (aromatase). Methods: We carried out a cytogenetic and molecular analysis in 273 FtMs, 442 MtFs, 371 control females and 473 control males. The control groups were healthy, age-and geographical origin-matched. The karyotype was investigated by G-banding and by high-density (HD) array in the transsexual group. The molecular analysis involved three tandem variable regions of genes ERβ (CA repeats in intron 5), AR (CAG repeats in exon 1) and CYP19A1 (TTTA repeats in intron 4). The allele and genotype frequencies, after division into short (S) and long (L) alleles, were obtained.
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Papers by rosa M fernandez
Desde un punto de vista neurológico, el cerebro humano infantil es más vulnerable a la negligencia, a la desnutrición, a la desatención, a los malos tratos, que cualquier otra especie, pudiendo originar secuelas neurológicas que le afectarán en el futuro aprendizaje. Ello ocasiona que un elevado número de niños adoptados manifiesten problemas de aprendizaje en la escuela.
Por otro lado, la falta de una vinculación afectiva durante la primera etapa de vida de un niño supone un grave trauma para el desarrollo de su sistema nervioso, pudiendo provocar futuros problemas de aprendizaje que se pueden confundir con un trastorno de la atención con o sin hiperactividad.
Pero a pesar de la alta probabilidad de que estos problemas y modificaciones cerebrales estén presentes en los niños con historia de abusos, no todos los menores maltratados desarrollarán este tipo de dificultades, debido al papel de las diferencias individuales a nivel genético y a nivel neuronal, el papel de la epigenética, el papel de la plasticidad neuronal y por supuesto el papel de la resiliencia.