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Biomedical subjects

S G Ratcliffe

Publications and source records attributed to S G Ratcliffe.

At least 19 recordsLinked to original sources
PubMed1999

Criminality and antisocial behaviour in unselected men with sex chromosome abnormalities.

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.

Adolescent↗
PubMed1995

Quantified testicular histology in boys with sex chromosome abnormalities.

Testicular histology in adult men with Klinefelter's syndrome (KS) is characterized by degenerative changes of the seminiferous epithelium. In contrast, limited changes have been reported in XXY fetuses. However, knowledge about the natural history of the degeneration of testicular histology in KS is scarce, and similarly testicular histology in prepubertal individuals with XY/XXY and XYY karyotypes is described incompletely. We have performed a qualitative and quantitative study of testicular histology in 11 XXY, one XY/XXY mosaic and two XYY boys between the neonatal period and 13 years of age using stereological methods and control data from normal XY boys and XY boys undergoing surgery for testicular maldescent. Testicular specimens were obtained at autopsy (n=2) or at time of surgery for malposition of the testis (n=10) or for inguinal hernia (n=2). The seminiferous tubules showed no sign of degeneration in any of the specimens. The volume density of seminiferous tubules was normal at all ages, whereas mean tubular diameter was reduced in all but three XXY boys. Germ cell numbers were only normal in XXY and XYY infants as well as in the 12 year old mosaic. No germ cells were observed in any XXY boy age 2 years or more. Leydig cells were observed in the infants and in a 13 year old XXY boy. The changes were comparable to what has been found in the most severely affected XY boys with testicular maldescent. We conclude that testicular histology in individuals with sex chromosome aneuploidy seems to be near normal during infancy, after which time degenerative changes occur.

Adolescent↗
PubMed1995

Urinary insulin-like-growth factor I in normal children: relationship to age, pubertal status and urinary growth hormone.

Authentic insulin-like growth factor 1 (IGF-I) can be detected in human urine at one thousandth of the serum level, with which it correlates closely. The aim of this study was to establish the normal range of urinary IGF-I (uIGF-I) in relation to age, sex, and pubertal status, and to define the relationship between uIGF-I and urinary growth hormone (uGH). IGF-I was measured by RIA after acid extraction of IGF-I binding protein, and separation by gel chromatography in 302 healthy children (149 boys and 153 girls) in whom uGH had already been measured. The mean amount of uIGF-I excreted each night ranged from 17.5 ng (males) and 14.9 ng (females) at pubertal stage I (PS 1), to a peak of 66.8 ng (males) at PS 4, and 55.8 ng (females) at PS 3, coinciding with peak uGH excretion. Highly significant correlations were found between uGH and uIGF-I both before and during puberty (P < 0.01). These findings extend the range of non-invasive investigation available in growth disorders and physiological studies.

Adolescent↗
PubMed1994

Head circumference and IQ of children with sex chromosome abnormalities.

At all ages XXX girls had significantly smaller head circumferences than control girls. Their IQ deficit was 24 points and IQ at age seven correlated significantly with head circumference at birth. In XXY boys, head circumference was significantly reduced at birth and up to nine years of age. The XXY boys' IQ deficit was 22 points, but IQ did not correlate with head circumference, as reductions in the two parameters did not always occur in tandem. The ratio of height-to-head circumference differed most in this group and could be useful in clinical recognition of this condition. XYY boys' head size did not differ from controls, despite their greater height, lower IQ scores indicating an adverse effect of an additional Y chromosome on brain development. The major factor affecting IQ outcome in the cohort was abnormal karyotype, with smaller effects from social class and head growth.

Adolescent↗
PubMed1994

Prenatal testosterone levels in XXY and XYY males.

It has been postulated that behavioural differences between normal males and those with an additional X or Y chromosome may be related to pre- or postnatal hormonal variations. The prenatal hormone status was investigated using amniotic fluid obtained at antenatal diagnosis between 16 and 20 weeks gestation from fetuses with sex chromosome abnormalities and from controls of the same gestational age. After log transformation, the (geometric) mean testosterone levels were XY 439.4 pmol/l, range 165-1,027 (n = 29), XYY 490.7 pmol/l, range 224-1,092 (n = 20); and XXY 419 pmol/l, range 87-1,021 (n = 20). There were no significant differences between the three male groups and all three were significantly higher than the XX fetuses at 147.0 pmol/l, range 41-474 (p < 0.001). These findings give no support to the hypothesis that prenatal testosterone levels contribute to later behavioural characteristics.

Amniotic Fluid↗
PubMed1989

Salivary testosterone levels and the progress of puberty in the normal boy.

Salivary testosterone (ST) levels were measured in 84 boys aged 7.3-16.2 from the Edinburgh Growth Study. The correlation coefficient between matched plasma/saliva samples was 0.88. Six samples were collected over the course of one day from 0900 to 2100 h each month in the majority of the children for 4 consecutive months. Mean daily ST levels showed a significant rise between each pubertal stage (genital (G) and pubic hair (PH]. The rise in ST became more rapid once a mean testicular volume (MTV) of 10 ml had been reached. The diurnal rhythm was assessed by individual curve fitting on the log scale and by cosinor analysis. A rhythm was present prepubertally and developed into a pattern similar to that of the adult rhythm by stage G3. The monthly rate of rise of ST was greatest at stage G4. A significant rise in ST levels was detectable immediately prior to an increase in MTV to 3 ml. This allowed earlier recognition of the clinical onset of puberty at testicular volume of 3 ml, which in this group occurred at 10.9 (SD 0.9) years. ST is a non-invasive and sensitive method for the serial monitoring of gonadal function in the prepubertal and adolescent boy.

Adolescent↗
PubMed1984

Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population.

Thirty-six infants were identified by cytogenetic screening at birth as having balanced rearrangements of their autosomes, and 30 of them took part in a longitudinal study of their development, together with four of their affected sibs. With the exception of one child with a de novo reciprocal translocation who died, all children attended normal schools. Congenital malformations and short stature were present in only one child who had a de novo reciprocal translocation. The IQ scores of the 10 children with de novo translocations were significantly lower than those of the 20 children with familial translocations, but there were children in the de novo group of above average intelligence. Children with familial reciprocal translocations had significantly higher IQ scores than both the Robertsonian translocations and the controls, but the numbers in each category were small and a variety of different chromosomes were involved.

Adult↗
PubMed1982

Emotional disorder in XYY children: four case reports.

Four boys, from a group of fourteen with an XYY chromosome constitution identified by cytogenetic screening at birth, were referred for psychiatric treatment, age seven to nine years. Presenting symptoms included severe temper tantrums, stealing and enuresis, and they were diagnosed as having mild to severe emotional disorders. There were multiple factors of increased risk for psychiatric disturbance in their backgrounds nd there was evidence of reactive depression in all four boys. Treatment with individual and family psychotherapy, combined with antidepressant medication in two of the four children and special educational provisions in one, resulted in good short-term outcome comparable to that achieved in chromosomally normal boys.

Affective Symptoms↗