Chromosome Abnormalities Related to Reproductive and Sexual Development Disorders: A 5-Year Retrospective Study.

Chromosomal abnormalities are the main genetic risk factor associated with reproductive and sexual development disorders (DSD). The goal of this study is to retrospectively evaluate the frequency of chromosomal aberrations in Moroccan subjects with problems of procreation or sexual ambiguity. A total of 1005 individuals, including 170 infertile couples, underwent cytogenetic analysis in the Cytogenetic Laboratory of the Pasteur Institute of Morocco. Heparinized blood samples were processed according to the standard karyotype method. A total (81.5%) of the patients studied had a normal karyotype, while the remaining (18.5%) patients had an abnormal karyotype. Female patients had more chromosomal abnormalities (52%) than male patients (48%). These chromosomal aberrations included 154 cases (83%) of sex chromosomal abnormalities, the most common being Turner's syndrome and Klinefelter's syndrome, and 31 cases (17%) had autosomal aberrations, especially chromosome 9 reversal (inv(9)(p12;q13)). The present data shows that among 170 couples, 10.6% had chromosomal abnormalities mainly involved in the occurrence of recurrent miscarriages. Genotype-phenotype correlations could not be made, and therefore, studies using more resolutive molecular biology techniques would be desirable.

Activación del cerebelo por estimulación olfativa en ratas macho sexualmente inexpertas / Activation of the cerebellum by olfactory stimulation in sexually naive male rats

Introducción: El cerebelo es una estructura que se ha vinculado con múltiples funciones, tales como control motor, cognición, memoria y procesamiento emocional. En cuanto a su relación con los sistemas sensoriales no está claro el papel que desempeña en relación con el sentido del olfato. Suponemos que las ratas macho sexualmente inexpertas presentarán un incremento en la actividad neuronal del vermis cerebelar tras ser estimuladas con olor de hembra receptiva y almendra. Métodos: Comparamos la actividad de la capa granular del vermis cerebelar mediante la inmunorreactividad a Fos tras estimulación olfativa. Esta estimulación se realizó durante 60 min en cámaras cúbicas de acrílico con un doble fondo. Los estímulos fueron aserrín limpio, con esencia de almendra y proveniente de la cama de hembras receptivas. Finalmente los machos fueron anestesiados con pentobarbital sódico intraperitoneal. El tejido cerebelar fue fijado con paraformaldehído para su posterior análisis inmunohistoquímico. Resultados: El número de células inmunorreactivas a Fos en todos los lóbulos del vermis cerebelar de los grupos estimulados con almendra y hembra receptiva fue similar, pero mayor comparado con el grupo de aserrín limpio. Conclusiones: La estimulación olfativa del sistema olfatorio principal (almendra) y accesorio (hembra receptiva) incrementa la producción de proteína Fos en la capa granular de la corteza cerebelar del vermis de ratas macho sexualmente inexpertas

Introduction: The cerebellum has been linked to multiple functions, such as motor control, cognition, memory, and emotional processing. As for its involvement in the sensory systems, the role of the cerebellum in the sense of smell remains unclear. We suggest that sexually naive male rats will present increased neuronal activity in the cerebellar vermis after being stimulated with almond odour or oestrous odour from receptive females. Methods: We compared activity in the cerebellar vermis using Fos immunoreactivity after olfactory stimulation. Stimulation took place during 60 min in a cube-shaped acrylic chamber with a double bottom. Stimuli were clean woodchip bedding, bedding with almond extract, and bedding taken from a cage of receptive females. Male rats were subsequently anaesthetised with intraperitoneal sodium pentobarbital. Cerebellar tissue was fixed with paraformaldehyde for later immunohistochemical analysis. Results: The number of Fos immunoreactive cells in all lobes of the cerebellar vermis was similar between groups stimulated with almond extract and with oestrous odour, and higher than in the clean woodchip group. Conclusions: Stimulation of the main olfactory system (almond) and the accessory system (oestrous odour) increases Fos protein production in the granular layer of the cortex of the cerebellar vermis in naive male rats

Gender identity disorder in twins: a review of the case report literature.

INTRODUCTION: The etiology of gender identity disorder (GID) remains largely unknown. In recent literature, increased attention has been attributed to possible biological factors in addition to psychological variables. AIM: To review the current literature on case studies of twins concordant or discordant for GID. METHODS: A systematic, comprehensive literature review. RESULTS: Of 23 monozygotic female and male twins, nine (39.1%) were concordant for GID; in contrast, none of the 21 same-sex dizygotic female and male twins were concordant for GID, a statistically significant difference (P=0.005). Of the seven opposite-sex twins, all were discordant for GID. CONCLUSIONS: These findings suggest a role for genetic factors in the development of GID.

Biological aspects of gender disorders.

The scientific community is very interested in the biological aspects of gender disorders and sexual orientation. There are different levels to define an individual's sex: chromosomal, gonadic, and phenotypic sex. Concerning the psychological sex, men and women are different by virtue of their own gender identity, which means they recognize themselves as belonging to a determinate sex. They are different also as a result of their own role identity, a set of behaviors, tendencies, and cognitive and emotional attitudes, commonly defined as "male" and "female". Transsexuality is a disorder characterized by the development of a gender identity opposed to phenotypic sex, whereas homosexuality is not a disturbance of gender identity but only of sexual attraction, expressing sexual orientation towards people of the same sex. We started from a critical review of literature on genetic and hormonal mechanisms involved in sexual differentiation. We re-examined the neuro-anatomic and functional differences between men and women, with special reference to their role in psychosexual differentiation and to their possible implication in the genesis of homosexuality and identity gender disorders. Homosexuality and transsexuality are conditions without a well defined etiology. Although the influence of educational and environmental factors in humans is undeniable, it seems that organic neurohormonal prenatal and postnatal factors might contribute in a determinant way in the development of these two conditions. This "organicistic neurohormal theory" might find support in the study of particular situations in which the human fetus is exposed to an abnormal hormonal environment in utero.

Hormônios pré-natais e a idéia de sexo cerebral: uma análise das pesquisas biomédicas sobre gênero e sexualidade / Prenatal hormones and the brain sex: an analysis of gender and sexuality in biomedical research

Este trabalho teve como objetivo analisar concepções de gênero e sexualidade na produção biomédica contemporânea e no processo de construção do conhecimento científico. Para isso, analisamos artigos científicos contemporâneos selecionados a partir de um levantamento na base de dados PubMed. Focamos em pesquisas sobre a teoria dos hormônios pré-natais, que propõe que comportamentos e características consideradas "femininas" ou "masculinas" são determinados, de modo inato, pelo "sexo" cerebral dos indivíduos, e que homossexuais e transexuais – por exemplo – possuiriam cérebros com um sexo discordante ao seu sexo biológico, sendo uma espécie de "hermafrodita" cerebral. Assim, através da análise dessas publicações, procuramos refletir sobre a relação entre ciência e senso comum, além dos ideais em torno da "masculinidade", "feminilidade" e "heterossexualidade" subjacentes ao conhecimento científico. Buscamos refletir também sobre a relação entre gênero, orientação sexual e desvio, e a importância concedida ao "biológico" e "inato" na sociedade contemporânea.

The aim of this study was to analyze the conceptions surrounding gender and sexuality in contemporary biomedical research and in the construction of scientific knowledge. We performed a PubMed search, focusing on papers that discussed the theory of pre-natal hormones. According to this theory, some behaviors and characteristics considered as "female" or "male" are innately determined by the individual‘s brain "sex", and homosexuals and transsexuals, for instance, have a different brain sex than their biologic sex, being a kind of a brain hermaphrodite. Therefore, through the analysis of these publications, we reflected on the relationships between science and common sense, and on the ideals of "masculinity", "feminility" and "heterossexuality" that form the basis of scientific knowledge. We also discussed the relationship between gender, sexual orientation and deviation, and the importance of the "biological" and "innate" given by contemporary society.