Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Århus,Denmark

Summary As part of a larger prospective study of the influence of environmental factors on pregnancy, birth and the fetus, chromosome examinations have been made in 34910 newborn children in Århus over a 13-year period. Klinefelter's syndrome was found in 1 per 576 boys, XYY in 1 per 851 boys, triple-X in 1 per 947 girls and Turner's syndrome in 1 per 1893 girls. Other sex chromosome aberrations were found in 1 per 11637 children. The total incidence of sex chromosome abnormalities was 1 per 426 children or 2.34 per 1000. The most frequent autosomal abnormalities were that of Down's syndrome with 1 per 592 children, and reciprocal translocations with 1 per 712 children. The total incidence of autosomal abnormalities was 1 per 164 children. Chromosome abnormalities were found in 276 liveborn children and in 19 fetuses, who were aborted after prenatal chromosome examination. The combined incidence of sex chromosomal and autosomal abnormalities was 1 per 118 children or 8.45 per 1000 children.     

Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

OBJECTIVE--To study prevalence of Turner''s syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner''s syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner''s syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner''s syndrome karyotypes among prenatally tested fetuses and Turner''s syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner''s syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner''s syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner''s syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner''s syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner''s syndrome of between 21% and 67%. There was no significant relation between mother''s age and risk of Turner''s syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner''s syndrome challenges specificity of prenatal examination in diagnosing Turner''s syndrome.     

Growth curves of children with Down syndrome.

Growth curves of 105 children with Down syndrome (50 boys and 55 girls) were established. At birth height, weight and head circumference of Down syndrome children were lower than these parameters in controls. This delay remained stable until puberty. For weight there was no clear-cut pubertal growth spurt. For stature, the prepubertal growth spurt occurred earlier (at the age of 11 years in boys and 9 1/2 years in girls) than in controls but was less marked. As a result, Down syndrome patients had a short stature with a quite normal weight. These reference curves, available since prenatal diagnosis of Down syndrome is performed routinely, are helpful for monitoring normal and abnormal development in Down syndrome patients.     

Relation of Leptin to Insulin Resistance Syndrome in Children

Objectives: To examine the relation of leptin to insulin resistance, as measured by euglycemic insulin clamp, and insulin resistance syndrome factors in thin and heavy children. Research Methods and Procedures: Anthropometrics, insulin, blood pressure, and leptin were measured in 342 11‐ to 14‐year‐old children (189 boys, 153 girls, 272 white, 70 black). Insulin sensitivity (M) was determined by milligrams glucose uptake per kilogram per minute and expressed as M/lean body mass (M_lbm). Children were divided by median BMI (boys = 20.5 kg/m²; girls = 21.4 kg/m²) into below‐median (thin) and above‐median (heavy) groups. Correlation coefficients between log‐leptin and components of insulin resistance syndrome were adjusted for Tanner stage, gender, and race. Results: BMI was related to leptin in boys (r = 0.70, p < 0.001) and girls (r = 0.75, p < 0.001). Leptin was higher in girls than boys (32.6 vs. 12.3 ng/mL, p = 0.0001). Leptin levels increased in girls and decreased in boys during puberty, paralleling the changes in body fat. Leptin was significantly correlated with insulin, M_lbm, triglycerides, and blood pressure in heavy children and only with insulin in thin children. After adjustment for body fat, the correlations remained significant for insulin and M_lbm in heavy children and with insulin in thin children. Discussion: Significant associations were found between leptin and insulin resistance in children, and these associations were attenuated by adjustment for adiposity. These findings at age 13 likely have long‐term consequences in the development of the obesity‐insulin resistance‐related cardiovascular risk profile.     

The role of estrogen in bone growth and maturation during childhood and adolescence

Twenty years ago it was believed that pubertal growth was stimulated by testicular androgen in boys and by adrenal androgen in girls. Estrogen, which was used to inhibit growth in excessively tall girls, was not thought to have growth-promoting effects. We hypothesized that estrogen has a biphasic effect on epiphyseal growth, with maximal stimulation at low levels. We showed that the administration of low doses of estrogen, corresponding to a serum estradiol level of about 4 pg/ml (15 pmol/l) caused more than a 60% increase over the prepubertal growth rate in both boys and girls. To test the hypothesis that estrogen is the principal mediator of the pubertal growth spurt in boys, we administered the aromatase inhibitor, testolactone, to boys with familial male-limited precocious puberty. Testolactone produced near normalization of both growth velocity and bone maturation, despite levels of serum testosterone that remained within the adult male range. The observation that low levels of estrogen stimulate growth and bone maturation suggested that estrogen might explain the more rapid epiphyseal maturation of prepubertal girls compared to boys. To determine whether prepubertal girls have higher estrogen levels than prepubertal boys, we developed an ultrasensitive recombinant cell bioassay for estrogen with a sensitivity of 0.02 pg/ml (0.07 pmol/l) estradiol equivalents. Prepubertal girls had approximately eight-fold higher levels of serum estradiol than did prepubertal boys (0.6 ± 0.6 pg/ml (SD) (2.2 ± 2.2 pmol/l) vs 0.08 ± 0.2 pg/ml (0.29 ± 0.73 pmol/l), P < 0.05). We concluded that the pubertal growth spurt of both sexes is driven primarily by estrogen, and that the more rapid epiphyseal maturation of prepubertal girls (vs boys) may be explained by their higher estradiol levels.     

Blood lead level and nutritional status indicators in preadolescent Polish schoolchildren

BackgroundEnvironmental pollutions with heavy metals may have toxic effects on human health and development. One of the most detrimental is lead exposure, which may disturb neurodevelopment and linear growth in children. However, data on the effect of lead exposure on nutritional and weight status in children are limited, thus this study aimed to assess the effect of blood lead (Pb) level on nutritional and weight status in preadolescent schoolchildren from the industrialized, mining region in southwestern Poland.MethodsOur study sample involved N = 709 schoolchildren (402 boys and 307 girls) in the preadolescent developmental period (7–11 years of age for boys and 7–10 years of age for girls). Anthropometric measurements were used to assess nutritional and weight status: body mass index (BMI), mid-upper arm circumference (MUAC) and skinfolds thicknesses (triceps, subscapular, abdominal and the sum of skinfolds). Blood Pb level was evaluated and divided into two groups: above (>3.7 μg/dL) and below median value (≤3.7 μg/dL).ResultsAnalysis of covariance (with children’s age controlled as a covariate) revealed that children with blood Pb level above median value had significantly lower values of BMI, MUAC and all skinfolds (at least p < 0.01). However, this effect was significant only in boys, whereas in girls differences were non-significant (p > 0.05). The highest effect size of blood Pb level was noted for skinfolds thicknesses (partial η²: 0.015 for the sum of skinfolds).ConclusionsNutritional status in children with higher blood Pb level is significantly impaired in preadolescent boys, who appear to be more sensitive to this environmental factor. Our findings indicate a particular need for nutritional and environmental interventions among preadolescent children in regions with higher lead exposure.     

The effect of prenatal stress on activity of the neurosteroids synthesis enzyme in the "critical period" of brain sexual differentiation in male rats

The effect of daily immobillisation stress in female rats on the 15th to 18th days of pregnancy upon synthesis enzyme for neurosteroids of alpha-reductase in their male offspring brain, was studied. A decrease in the enzyme activity in the cortex and hypothalamus of male foetuses occurred within 24 hr following the latest stress, whereas it was increased in the cortex of newborn offspring. An enhancement of the 5 alpha-reductase activity in the cortex, hippocampus and hypothalamus was also found in prenatally stressed males on the 5th day of life. A decrease in the testosterone and progesterone contents in the blood plasma of the animals under study was revealed on the 19th day of their embryonic life as well as in newborn rats, the blood level of progesterone, at that, remained decreased even at the age of 5 days. A possible part ofneurosteroids in action of prenatal stress upon sexual differentiation of the brain is discussed.     

Precocious or early puberty and growth failure in girls treated for acute lymphoblastic leukaemia

We have studied 41 children with early or precocious puberty who have been treated for acute lymphoblastic leukaemia with prophylactic cranial irradiation (1,800-2,400 cGy) accompanied by intrathecal methotrexate and systemic chemotherapy. Mean age at radiotherapy was 3.9 years (range 1.7-7.7) in the girls and 4.8 years (range 2.6-7.8) in the boys. Mean age at the onset of puberty was 8.6 years (range 6.7-9.7) in the girls and 9.3 years (range 7.8-10.3) in the boys. Of the 41 children with early puberty (greater than 1.4 SD from the mean) 36 were females and 5 were males. 21 of the 36 girls had an absent or inadequate growth acceleration of puberty. 7 of 12 girls who had a pharmacological test of growth hormone (GH) secretion had GH insufficiency (peak level less than 20 mU/l). Early or precocious puberty combined with GH insufficiency may produce severe growth failure and we have used a treatment regimen of a gonadotrophin-releasing hormone analogue, in order to reduce the rate of epiphyseal maturation, combined with biosynthetic GH to increase or sustain growth rate. We have treated 4 girls in this manner. During a mean treatment period of 0.86 years, height SDS for bone age rose from a mean of -1.06 to -0.59. Longer treatment periods will be required to assess the effect on final height.     

Effects of an epiphyseal peptide preparation epithalamin on serotonin metabolism in the pineal gland of rats]

5-day morning injections to pubertal male rats of polypeptide epithalamin preparation obtained from cattle epiphysis, in dose of 0.25 mg/100 g body mass induced the increase of serotonin epiphyseal concentration night peak, N-acetylserotonin and melatonin and didn't produce any essential influence on 5-methoxytryptamine, 5-oxy- and 5-methoxyindoleacetic acid level. It has been concluded, that epiphyseal peptides and indoles interact according to ultrashort connection, epiphyseal peptides point of application is the reaction of tryptophan transformation into serotonin and its further metabolism in N-acetylserotonin and melatonin. It has been suggested that the increase of epiphyseal melatonin production is on the basis of epithalamin therapeutic action.     

Prenatal stress and gender role behavior in girls and boys: a longitudinal,population study

Prenatal stress influences neural and behavioral sexual differentiation in rodents. Male offspring of stressed pregnancies show reduced masculine-typical characteristics and increased feminine-typical characteristics, whereas female offspring show the opposite pattern, reduced feminine-typical and increased masculine-typical characteristics. These outcomes resemble those seen following manipulations of gonadal hormones and are thought to occur because stress influences these hormones during critical periods of development. Research on prenatal stress and human sexual differentiation has produced inconsistent results, perhaps because studies have used small samples and assessed prenatal stress retrospectively. We related maternal self-reports of prenatal stress to childhood gender role behavior in a prospective, population study of 13,998 pregnancies resulting in 14,138 offspring. Neither stress reported during the first 18 weeks of pregnancy nor stress reported from week 19 of pregnancy to week 8 postnatal related to gender role behavior in male offspring at the age of 42 months. In female offspring, maternal reports of stress during both periods showed only small correlations with masculine-typical behavior. Although this relationship remained significant when other factors that related to stress were controlled, these other factors made larger contributions to girls' gender role behavior than did prenatal stress. In addition, in both boys and girls, older male or female siblings, parental adherence to traditional sex roles, maternal use of tobacco or alcohol during pregnancy, and maternal education all related significantly to gender role behavior. Our results suggest that prenatal stress does not influence the development of gender role behavior in boys and appears to have relatively little, if any, influence on gender role behavior in girls.     

Fetal sex determination in infants in Punjab,India: correlations and implications.

OBJECTIVES--To determine the proportion of children whose sex was determined prenatally among those attending one Indian hospital and to identify factors which affect use of fetal sex determination. DESIGN--Cross sectional study using interviews with mothers. SETTING--Medical school hospital in Punjab, India. SUBJECTS--596 children delivered or seen for inpatient or outpatient care. MAIN OUTCOME MEASURES--Fetal sex determination, sex of child, number and sex of siblings, type of care received, socioeconomic status, and maternal education. RESULTS--Sex had been determined prenatally for fewer girls (5/236, 2%) than boys (49/360, 14%). Fetal sex determination had been done for only 2% (3/154) of first born boys compared with 18% (12/66) with one older sister and no older brother and 63% (30/48) with more than one older sister and no older brother. Only four boys whose sex had been determined prenatally had older brothers. The five girls whose sex had been determined prenatally either had a male twin or were incorrectly identified as male. Prenatal sex determination had been done for 21% (26/122) of boys admitted for inpatient care compared with 11% (19/173) seen as outpatients. Use of fetal sex determination increased with increasing monthly income (chi2 for trend = 6.384, P = 0.0115). None of the mothers who had had no education had used fetal sex determination, but among mothers with some education the frequency of use did not change with increasing education. The sex ratio of children born at the hospital rose from 107 boys/100 girls in 1982 to 132 boys/100 girls in 1993. CONCLUSIONS--Fetal sex determination was common, especially if the family already had daughters. Sex determination seems to be driven by a desire to have sons, with socioeconomic status and education having little effect. The lower prevalence of fetal sex determinations for girls is likely to be due to abortion of fetuses found to be female.     

The Relationship between the Second-to-Fourth Digit Ratio and Behavioral Sexual Dimorphism in School-Aged Children

Sexually dimorphic brain development and behavior are known to be influenced by sex hormones exposure in prenatal periods. On the other hand, second-to forth digit ratio (2D/4D) has been used as an indirect method to investigate the putative effects of prenatal exposure to androgen. In the present study, we herein investigated the relationship between gender-role play behavior and the second-to-fourth digit ratio (2D/4D), which has been used as an indirect method to investigate the putative effects of prenatal exposure to androgens, in school-aged children. Among 4981 children who became 8 years old by November 2014 and were contactable for this survey by The Hokkaido Study of Environment and Children''s Health, 1631 (32.7%), who had data for 2D/4D and Pre-school Activities Inventory (PSAI) as well as data for the survey at baseline, were available for analysis. Parents sent reports of PSAI on the sex-typical characteristics, preferred toys, and play activities of children, and black and white photocopies of the left and right hand palms via mail. PSAI consisted of 12 masculine items and 12 feminine items, and a composite score was created by subtracting the feminine score from the masculine score, with higher scores representing masculine-typical behavior. While composite scores in PSAI were significantly higher in boys than in girls, 2D/4D was significantly lower in boys than in girls. Although the presence or absence of brothers or sisters affected the composite, masculine, and feminine scored of PSAI, a multivariate regression model revealed that 2D/4D negatively correlated with the composite scores of PSAI in boys, whereas no correlation was found in girls. Although 2D/4D negatively correlated with the masculine score in boys and girls, no correlation was observed between 2D/4D and the feminine score. In conclusion, although social factors, such as the existence of brother or sisters, affect dimorphic brain development and behavior in childhood, the present study revealed that the prenatal hormonal environment was an important factor influencing masculine-typical dimorphic brain development and behavior in school-aged children.     

Melatonin and childbearing: Part 2. Postimplantation period

In this part of the review, we have tried to consider the dependence of the pineal hormone melatonin in human blood serum. It was established that one of the main functions of melatonin is the synchronization of all organs and the regulation of seasonal and diurnal rhythms of their physiological activity. It is confirmed that pregnancy and childbirth directly depend on the rhythm and level of melatonin secretion in the body. It was also found that melatonin maintains the appropriate proliferative level and immune status of the fetus. Disturbances in the melatonin secretion rhythm in children lead to the development of mental (stress and depression) and physiological (preeclampsia, eclampsia, fetal hypoxia, and miscarriages) pathologies. A drastic decrease in the melatonin concentration initiates the childbirth process. Therefore, the creation of conditions for maintaining a sufficient level of melatonin is required to ensure the birth of healthy offspring.     

Lead and cadmium in the hair and blood of children from a highly industrial area in Poland

The study covered the children living in Miasteczko ?lcaskie, near the largest Zn plant in Poland. This is one of the areas highly contaminated with heavy metals. The subjects were 158 children aged from 8 to 15 (98 boys and 60 girls). The average Pb and Cd levels in the hair of the entire children population was 8.21 ± 5.59 μg/g, and 0.91 ± 0.61 μg/g, and the average Pb and Cd levels in their blood were 14.32 ± 3.98 and 0.52 ± 0.24 μg/dL^-1, respectively. The children population under investigation was divided according to their sex. The hair of the girls contained, on the average, 5.06 ± 2.81 μg/g of Pb and 0.74 ± 0.48 ug/g of Cd and the hair of the boys 10.14 ± 6.0 μg/g of Pb and 1.01 ± 0.65 ug/g of Cd. The blood of the girls contained, on the average, 13.23 ± 4.23 μg/dL of Pb and 0.48 ± 0.21 μg/dL of Cd, and the blood of the boys 14.99 ± 3.68 μg/dL of Pb and 0.55 ± 0.24 μg/dL of Cd. Thus, both the hair and blood of the boys accumulated more Pb and Cd than those of the girls. A correlation between the concentrations of these metals was confirmed.     

Neonatal outcome of fetuses with urinary tract abnormalities diagnosed by prenatal ultrasonography.

Between 1979 and 1986 an abnormality of the urinary tract was diagnosed by prenatal ultrasound examination in 93 fetuses. Postnatal investigation at a large teaching hospital showed a definite abnormality in 85 infants, 66 of whom were boys. An obstructed urinary tract, usually requiring surgery, was present in 46 infants. Other abnormalities included a multicystic kidney (in 15 infants), vesicoureteric reflux (in 9), prune-belly syndrome (in 5) and polycystic kidneys (in 5). Early recognition and treatment of urinary tract disorders in infants should be accompanied by informed prenatal counselling to minimize parents'' anxiety.     

Prevalence of the fragile X syndrome in four birth cohorts of children of school age

Summary The prevalence of the fragile X syndrome among 12,882 children (6594 boys and 6288 girls) born during the years 1969–1972 in Kuopio province in eastern central Finland has been studied retrospectively. Mentally retarded children were selected from normal schools by using school achievement tests and from registers of mentally retarded individuals. In the present study fragile X syndrome was found in 6/111 mentally retarded children (5.4%), in 4/61 boys and in 2/50 girls, respectively. It was not detected in the control group of 85 healthy children. The corrected prevalence of fragile X syndrome among boys in four successive birth cohorts was estimated to the 1 in 1210 or 0.8/1000, and that among girls, 1 in 2418 or 0.4/1000. The overall prevalence was calculated to be 1 in 1612 or 0.6/1000 children.     

Association of physical activity and the metabolic syndrome in children and adolescents: CASPIAN Study

BACKGROUND/AIM: To determine the association of physical activity and the metabolic syndrome in a large national-representative sample of children. METHODS: This study was performed in 2003-2004 on 4,811 school students aged 6-18 years, selected by multi-stage random cluster sampling from six provinces in Iran. We assessed the level of physical activity using a standardized questionnaire, and categorized it to the tertiles. The metabolic syndrome was defined based on criteria analogous to those of the Adult Treatment Panel III. RESULTS: The participants comprised 2,248 boys and 2,563 girls with a mean age of 12.07 +/- 3.2 years. In all age groups, boys were more physically active than girls. The metabolic syndrome was detected in 14.1% of participants, and its prevalence was higher in those subjects in the 1st, 2nd and 3rd tertiles of physical activity, respectively (15.1 vs.14.2 and 13.1%, respectively, p <0.05). This difference was seen in boys, while no difference was found between girls in the 2nd and 3rd tertiles of physical activity. Physical activity was linked to a cluster of factors consisting of high-density lipoprotein-cholesterol and waist circumference, followed by triglycerides in boys, and of triglycerides, waist circumference and blood pressure in girls. In both genders, before and after adjustment for age and body mass index, low levels of physical activity significantly increased the risk of having the metabolic syndrome [in boys: OR: 1.8, 95% CI: 1.1, 2.1; and in girls, OR: 1.6 (1.1, 1.9)]. CONCLUSION: We found an association between physical activity and the metabolic syndrome, which was independent of body mass index and age. Children should be encouraged to have greater physical activity.     

Ethnic Differences in Subcutaneous Adiposity and Waist Girth in Children and Adolescents

The purpose of this study was to examine ethnic differences in adiposity as measured by sum of skinfolds (SKF) and waist circumference (WC) in children and adolescents, after statistical adjustment for the BMI and age. A cross sectional sample of 3,218 (55% white, 49% male) children and adolescents aged 5–18 years who participated in the Bogalusa Heart Study (1992–1994) were included in these analyses. Sex‐specific ANOVAs, adjusted for BMI and age, for each 2‐year age group compared measures of adiposity (SKF and WC) between ethnic groups. No significant differences in the proportions of children and adolescents who were overweight and obese by ethnicity or sex were found. Mean SKF in normal weight (P < 0.0001) and overweight (P < 0.0001) categories was higher for white than black children of both sexes. Across most age categories, white boys and girls had significantly higher SKF than black boys and girls, respectively (P ≤ 0.05). Across most age categories, white boys had significantly higher WC than black boys (P ≤ 0.05) with no difference in the girls, when adjusted for BMI and age. Measures of adiposity in childhood and adolescence were significantly higher in white children compared to black children, when adjusted for BMI and age. Throughout childhood and adolescence, white boys and girls had higher SKF and white boys had higher WC. Differences in adiposity between ethnic groups should be considered in disease risk assessment and stratification as they are observed even for a given BMI level.     

Growth of lowland native children of European Ancestry during sojourn at high altitude (3,200 m)

The moderate growth retardation frequently observed among children living at high altitude is usually assumed to result from hypoxic stress. However, such children are frequently from the poorer socioeconomic strata of their societies and may suffer malnutrition, poor hygiene, inadequate medical care, and overcrowding—factors also associated with growth retardation. The objective of this study was to determine if there is a statistically observable alteration in the growth of middle-class children of European ancestry during sojourn at high altitude. Semilongitudinal height/weight measurements were gathered retrospectively from medical records of 18 boys and 17 girls who were born at low altitude, were well-nourished and clinically normal, and who had lived at Achoma, Peru (altitude 3,200 m), continuously for 9–36 months. Measurements were divided, by sex, into four cohorts: I (3–6 months at Achoma), II (6–12 months), III (12–18 months), and IV (18–24 months); initial, presojourn, height and weight were also obtained. All heights and weights were normalized with age-specific reference values. Changes in Z scores (ΔZ) during sojourn were calculated for each subject by subtracting the score of the presojourn value from those of cohorts I–IV. Paired t-tests revealed, among the boys, a significant decline in Z score for weight during sojourn in all four cohorts. Weight scores for the girls also declined in all four cohorts, although only the change in cohort III was significant. Height scores showed a decline with time at sojourn in the boys, but in girls there is an initial drop followed by a steady increase to presojourn levels. These results are consistent with the view that moderate hypoxia exerts a primary growth-limiting effect even on healthy, well-nourished children.     

Measurement of localized bone growth employing natural markers

Transverse lines on the distal tibia, transiently present in 90% of boys and girls, afford the possibility of measuring localized bone growth, proximal and distal, epiphyseal and diaphyseal, and their relative and shifting contributions to total bone growth in children followed in longitudinal fashion.