Sex Chromosome Abnormalities, Homosexuality and Psychological Treatment

1974 ◽  
Vol 124 (580) ◽  
pp. 293-295 ◽  
Author(s):  
A. Orwin ◽  
Sheelah R. N. James ◽  
R. Keith Turner

The theory that some male homosexuals might have female chromosomal constitution (Lang, 1940) became untenable when techniques for studying sex chromosomes were developed. Amongst others the work of Pare (1956) and Raboch and Nedoma (1958) showed that male homosexuals had normal male chromosomes. The latter authors in the same study also reported on 36 male patients with a female type of sex chromatin (i.e. chromatin positive) and could not detect any homosexual orientation: 32 were definitely heterosexual and the remaining 4 were considered ‘infantile’, They assumed that the finding of a chromatin-positive homosexual would be coincidental and that there was no causal relationship between this sex chromosome abnormality and homosexuality. Money and Pollitt (1964) searched for a genotypical abnormality in a related psychosexual disorder, namely transsexualism, but although they collected six cases in the literature where Klinefelter's syndrome and transsexualism occurred together, the correlation was not statistically significant. In fact, it would now appear to be established that there is no specific correlation between sex chromosome abnormality and psychosexual disorders (Slater and Cowie, 1971).

1974 ◽  
Vol 124 (580) ◽  
pp. 299-305 ◽  
Author(s):  
Ming T. Tsuang

The development of techniques for studying sex chromatin from oral mucosa (Moore and Barr, 1955; Marberger at al., 1955), and chromosomes from peripheral blood (Moorhead et al., 1960), has made it possible to undertake population surveys to identify individuals with abnormal sex chromosomes. The present knowledge of psychiatric effects of the sex chromosome abnormalities has been derived mainly from comparing their frequency in the psychiatric population with that in the general population.


1968 ◽  
Vol 114 (514) ◽  
pp. 1167-1174 ◽  
Author(s):  
J. M. Anders ◽  
G. Jagiello ◽  
P. E. Polani ◽  
F. Giannelli ◽  
J. L. Hamerton ◽  
...  

The observation of a higher incidence of sex-chromosome abnormalities amongst patients in mental deficiency and subnormality institutions than in the general population (Maclean et al., 1962; Court Brown et al., 1964) suggested that a sex chromatin survey of a theoretically related chronic psychotic population might be of interest. Mott (1919) observed a high frequency of testicular atrophy in dementia praecox, particularly in patients dying in early adolescence, and Forster (quoted by Mott, 1919) reported on the ovarian findings in similarly affected women. Hemphill et al. (1944) found a high incidence of testicular atrophy in a series of ninety male schizophrenic patients.


2018 ◽  
Vol 19 (2) ◽  
pp. 40-51
Author(s):  
N. Yu. Safina ◽  
T. A. Yamandi ◽  
V. B. Chernykh ◽  
L. V. Akulenko ◽  
S. V. Bogolyubov ◽  
...  

The objectiveis to study the occurrence of common genetic factors of male infertility in men with reproductive problems, their combinations and spermatological characteristics.Materials and methods. 393 men with infertility in marriage were examined. According to the results of the cytogenetic study, the sample is divided into 3 groups: 135 men with numerical sex chromosome abnormalities; 58 male patients with a balanced structural rearrangement; 200 men with normal karyotype. Y chromosome microdeletions, CFTR gene mutations and CAG-repeats polymorphism of AR gene were analyzed.Results. The Y-chromosome microdeletions partially AZFc deletions were detected in 13 % male patients with sex chromosome abnormalities. A combination of chromosomal abnormalities with AZF deletions and/or CFTR gene mutations and long CAG repeats of AR gene was found in 19 % infertile men with balanced chromosome rearrangements. Infertile men with normal male karyotype presented the frequency of common genetic factors of male infertility was almost 2 times higher than the combined frequency of these factors in groups of patients with chromosomes abnormalities. Azoospermia in men with normal karyotype and patients with chromosome abnormalities was diagnosed with the same frequency (58 %). In all men who have identified the presence of two or more genetic factors of male infertility, severe forms of pathozoospermia (azoospermia and severe oligozoospermia) were found.Conclusion. The combination of genetic factors of male infertility is accompanied by severe forms of pathozoospermia that indicates a possible additive effect of negative effect on spermatogenesis and male fertility. 


1999 ◽  
Vol 29 (4) ◽  
pp. 953-962 ◽  
Author(s):  
M. J. GÖTZ ◽  
E. C. JOHNSTONE ◽  
S. G. RATCLIFFE

Background. Previous studies on male patients with sex chromosome abnormalities (SCA), namely XYY and XXY, suggest that such patients commit criminal acts more frequently than expected. Most of these studies are affected by ascertainment bias.Methods. Using a population-based sample of men with SCA, identified by screening 34380 infants at birth between 1967 and 1979, comparison between 16 XYY men, 13 XXY men and 45 controls were made in terms of frequency of antisocial personality disorder (APD) using the Schedule for Affective Disorders and Schizophrenia lifetime version. Rates of criminal convictions were examined in 17 XYY men, 17 XXY men and 60 controls.Results. XYY males showed a significantly higher frequency of antisocial behaviour in adolescence and adulthood and of criminal convictions than the controls, but multiple regression analysis showed this to be mediated mainly through lowered intelligence. Property offences constituted the majority of offences in all groups. The XXY men did not show an increased rate of criminal convictions. It is possible that this apparently negative result relates to the relatively small numbers of cases and hence low power of this study.Conclusions. The findings of this study carry the advantage of not being affected by ascertainment bias and the disadvantage of having low power. It provides evidence for a slightly increased liability to antisocial behaviour in XYY men.


2005 ◽  
Vol 53 (3) ◽  
pp. 285-288 ◽  
Author(s):  
Caroline Mackie Ogilvie ◽  
Celia Donaghue ◽  
Susan P. Fox ◽  
Zoe Docherty ◽  
Kathy Mann

Molecular cytogenetic aneuploidy testing for pregnant women at increased risk of chromosome abnormality leads to rapid reassurance for those with normal results and earlier decisions on pregnancy management in the case of abnormality. We tested 9080 prenatal samples using a one-tube QF-PCR test for trisomies 13, 18, and 21; the abnormality rate was 5.9%. There were no misdiagnoses for non-mosaic trisomy. A sex chromosome multiplex was developed that detects structural sex chromosome abnormalities as well as aneuploidies. The sex chromosome test was targeted at pregnancies (272) with specific abnormalities suggestive of Turner syndrome; 13.2% showed 45,X, confirmed by follow-up analysis.


1965 ◽  
Vol 111 (476) ◽  
pp. 641-647 ◽  
Author(s):  
Johannes Nielsen ◽  
Margit Fischer

The present study is part of a sex-chromatin survey in a mental hospital. It has been made as a preliminary step in finding the prevalence and incidence of sex-chromosome abnormalities among patients with mental illness; and it also has the purpose of studying the psychopathological and genetic aspects of sex-chromosome abnormalities. The study comprises all clinically hypogonadal patients referred by the psychiatrists at this hospital to the cytogenic laboratory during a period of approximately 1 month. In a survey of this kind we can expect to find patients with certain abnormalities of the sex chromosomes.


1974 ◽  
Vol 16 (1) ◽  
pp. 113-119 ◽  
Author(s):  
A. G. Bell ◽  
Mary H. Cripps

Chromosome studies on the parents and sibs of subjects identified with numerical sex chromosome abnormalities through a sex chromatin and Y body survey of Toronto newborns have been performed. In 51 full sibs of 30 probands there were one XXY brother and one XYY brother of two different XXY subjects. No parental mosaicisms were demonstrated, although these were looked for in the parents of these two families. While no other aneuploidies were found in these sibs, other reports strongly suggests that the risk to sibs includes risk of autosomal anomalies as well.In addition to these findings in sibs, two of the XXY probands were found to be half-first cousins.


Author(s):  
Agnethe Berglund ◽  
Kirstine Stochholm ◽  
Claus Højbjerg Gravholt

1968 ◽  
Vol 114 (517) ◽  
pp. 1589-1590 ◽  
Author(s):  
Johannes Nielsen

All male patients above 180 cm. tall who were resident in the Århus State Hospital on 13 April, 1966, were registered: they numbered 42 out of the total of 440 resident males (8 · 1 per cent.). One patient, a 78-year-old man, died before chromosome analysis was made. Sex-chromatin analysis was made on Feulgenstained buccal smears and chromosome analysis was made on leucocyte cultures according to the method described by Moorhead et al. (1960), slightly modified. Not less than 25 metaphases were counted, at least 15 metaphases with the modal figure and all metaphases with a chromosome number deviating from the modal figures were analysed.


PEDIATRICS ◽  
1957 ◽  
Vol 20 (4) ◽  
pp. 740-746
Author(s):  
Melvin M. Grumbach

Dr. Grumbach: Barr and associates have demonstrated that in the human the majority of somatic cells of females contain a conspicuous, heterochromatic mass of chromatin in the resting nuclei. Their discovery of a sex-difference in intermitotic nuclei of a number of vertebrate species, including man, has provided a relatively simple method for assessing the sex-chromosome constitution. This chromatin mass is about 1 micron in diameter and often plano-convex in configuration. It is usually located against the inner surface of the nuclear membrane and contains desoxyribonucleic acid. In males, a comparable chromatin mass is rarely found, never in more than a few per cent of the nuclei. There is good evidence that this so-called "sexchromatin" represents the fusion of heterochromatic portions of two X-chromosomes. The sex chromatin can be conveniently determined by examination of specimens of skin obtained by biopsy (Fig. 1). Recently, more practical methods for determining cytologic sex have been described employing smears from readily available tissues, such as the oral and vaginal mucosa (Fig. 2) and the blood. Davidson and Smith have shown that there is a sex difference in the morphology of polymorphonuclear neutrophils. Cytologic examination of chromosomal sex has provided an important tool for the investigation of anomalies of sex development. Apart from its ancillary role in diagnosis, cytologic examination of sex chromatin has made a significant contribution to our understanding of the disordered development in these afflictions. However, the results of this determination should not be regarded as an especial indication of the psychosexual orientation of patients with such abnormalities, nor, in the case of infants, of the sex to which they should be assigned.


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