OBJECTIVE: To analyze the clinical and genetic characteristics of five Chinese pedigrees affected with short stature. METHODS: A retrospective analysis was carried out for the clinical data and results of genetic testing for the probands. A literature search was also conducted. RESULTS: The five probands have all featured short stature with a family history. Genetic testing has revealed that they have harbored variants of the ACAN gene, including p.Val2042Argfs*6, p.Val1597del, c.630-1G>A, c.23delT and c.2026+1G>A(previously reported). CONCLUSION Except for short stature, children harboring heterozygous variants of the ACAN gene may have no involvement of other systems. Some of these children may response to short-term growth hormone treatment.
Aggrecans/genetics* ; Body Height/genetics* ; Child ; China ; Genetic Testing ; Humans ; Pedigree ; Retrospective Studies

The growth trends of Singapore children spanning 5 decades are reviewed, based on 8 anthropometric studies from 1957 till 2002. The heights of pre-school children and school age children appear to have optimised according to their genetic potential, but the weights and body mass indices of children still appear to be increasing from 6 to 18 years for both sexes, probably as a consequence of increasing affluence. This trend is reflected in the increasing obesity prevalence in school children over the past 30 years, and the concomitant increased morbidity associated with the metabolic syndrome, necessitates further research into the causes of obesity. Barker's hypothesis first suggested that changes in the intra-uterine environment can cause fetal adaptations which persist into adulthood, and are responsible for many chronic diseases of adult life. More recently, intense research in the field of epigenetics suggests that the environment can also influence the phenotype through gene expression, through modification of DNA methylation and histones which, in turn, influences gene expression. The challenge for the future is to determine if there are clear epigenetic changes, which are responsible for the increased prevalence of childhood and adolescent obesity, and whether these changes are transmitted through generations. Unravelling these epigenetic mechanisms may be the key to the prevention of obesity and the metabolic syndrome.
Adolescent ; Adolescent Development ; Anthropometry ; Body Height ; genetics ; Body Mass Index ; Child ; Child Development ; Child, Preschool ; Epigenesis, Genetic ; Humans ; Infant ; Infant, Newborn ; Obesity ; genetics ; Singapore

Adolescent ; Body Height ; Chromosomes, Human, X ; Female ; Growth Hormone ; deficiency ; Humans ; Karyotyping ; Monosomy ; Mosaicism ; Turner Syndrome ; genetics ; metabolism ; pathology

OBJECTIVETo analyse the heritabilities of physical growth items of body and its related factors.

METHODSAn 116 twin pairs of Han nationality, 67 monozygotic (MZ) and 49 like-sex dizygotic (DZ) aged 6 to 12 years, were investigated from June to October in 2004. The measurements included height, weight, sitting height, chest circumference, biacromial breadth and biiliac breadth, and BMI index calculated by the former two measurements. The heritabilities were estimated by using intraclass correlation coefficient method from the adjusted data for age.

RESULTSThe intraclass correlation coefficient was greater in the MZ twins than in the DZ twins. The estimated heritabilities of height, weight, BMI, sitting height, chest circumference, biacromial breadth and biiliac breadth were 0.89, 0.88, 0.73, 0.87, 0.78, 0.78, 0.73 in boys and 0.87, 0.74, 0.72, 0.86, 0.62, 0.56, 0.59 in girls adjusted for age. Therefore, there were no sex difference for the heritabilities of height, sitting height and BMI, but the male heritabilities of weight, chest circumference, biacromial breadth and biiliac breadth were higher than the female's respectively.

CONCLUSIONPhysical growth items should be mainly determined by the genetic factors. There are sex differences for the heritabilities of weight, chest circumference, biacromial breadth and biiliac breadth, i.e., the girls might be affected more easily by environmental factors than the boys in these items.

Asian Continental Ancestry Group ; genetics ; Body Height ; genetics ; Body Mass Index ; Body Weight ; genetics ; Child ; China ; Female ; Humans ; Male ; Twin Studies as Topic ; Twins, Dizygotic ; ethnology ; genetics ; Twins, Monozygotic ; ethnology ; genetics

Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. These primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS. We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth charts for understanding the growth patterns in MFS and managing of patients with MFS. Anthropometric data were available from 187 males and 152 females with MFS through a retrospective review of medical records. Disease-specific growth charts were generated and 3, 25, 50, 75, and 97 percentiles were calculated using the LMS (refers to lambda, mu, and sigma, respectively) smoothing procedure for height and weight. Comparisons between MFS patients and the general population were performed using a one-sample t-test. With regard to the height, the 50th percentile of MFS is above the normative 97th percentile in both genders. With regard to the weight, the 50 percentile of MFS is above the normative 75th percentile in male and between the normative 50th percentile and the 75th percentile in female. The disease-specific growth charts for Korean patients with MFS can be useful for monitoring growth patterns, planning the timing of growth-reductive therapy, predicting adult height and recording responses to growth-reductive therapy.
Adolescent ; Adult ; Asian Continental Ancestry Group ; *Body Height ; Body Mass Index ; *Body Weight ; Child ; Child, Preschool ; Female ; *Growth Charts ; Growth Disorders/*physiopathology ; Humans ; Male ; Marfan Syndrome/genetics/*physiopathology ; Microfilament Proteins/genetics ; Reference Values ; Republic of Korea ; Retrospective Studies ; Young Adult

The polymorphism of vitamin D receptor (VDR) gene may be associated with bone density, osteoporosis and body height. In this review, the authors summarize the association of the four VDR single nucleotide polymorphisms (SNPs) loci FokI, BsmI, ApaI, TaqI with bone density, osteoporosis and body height reported at home and abroad in recent years. And find that though each country's report may be different, its valuable in the field of genetics, clinical endocrinology and metabolism, especially in the research area of body height in forensic medicine.
Body Height/genetics* ; Bone Density/genetics* ; Female ; Forensic Medicine/methods* ; Gene Frequency ; Genotype ; Humans ; Male ; Osteoporosis/genetics* ; Polymerase Chain Reaction/methods* ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Racial Groups/genetics* ; Receptors, Calcitriol/genetics*

OBJECTIVETo improve the accuracy of the diagnosis of the disease on the basis of the clinical features and genetic characteristics of patients with Silver Russell syndrome (SRS).

METHODPatients diagnosed with SRS by Price criteria in 2006 to 2011 were reviewed for their clinical manifestations, physical signs, laboratory examinations and treatments.

RESULTTwenty cases with SRS were 0.08-12.17 yr old. Fifteen were male and 5 were female. The clinical characteristics included more than 80% of cases had postnatal growth retardation 100% (20/20), craniofacial dysmorphism 100% (20/20), small for gestation age 95% (19/20), asymmetry and thinning of the face and/or limbs 90% (18/20), fifth finger clinodactyly 80% (16/20), BMI < -2 SDS 80% (16/20). Their height was obviously lagging behind in the bone age. HD SDS/average of bone retardation was 3.08. The two patients with the chief complaint of external genital abnormalities would have aggressive surgical treatment and they did not use the growth hormone (GH) treatment. Only six patients had used the GH treatment. GH treatment at a dose of 0.1 IU/(kg·d) used in 2 cases achieved a growth velocity (GV) 8 - 11 cm/yr but in another 2 cases < 5 cm/yr. In genetic study, 6 patients were found to have 11p15 low methylation, 1 had low and high methylation, 1 had duplication, no relation between clinical and methylation of 11p15 was found.

CONCLUSIONThere were great variations of clinical features in SRS characterized by small for gestation age and/or postnatal growth retardation, craniofacial dysmorphism, asymmetry of the face and/or limbs or ultrafine limbs, fifth finger clinodactyly. Severely low BMI was seen and height was obviously lagging behind in the bone age. The findings of laboratory tests and imaging of SRS were not specific. Some of SRS had 11p15 imprinting defects. The treatment of SRS is mainly symptomatic.

Abnormalities, Multiple ; diagnosis ; genetics ; Adolescent ; Body Height ; Bone Density ; Child ; Child, Preschool ; Chromosomes, Human, Pair 11 ; genetics ; DNA Methylation ; Female ; Genetic Association Studies ; Genomic Imprinting ; Growth Disorders ; diagnosis ; genetics ; Humans ; Infant ; Male ; Retrospective Studies ; Silver-Russell Syndrome ; diagnosis ; genetics

OBJECTIVETo analyze the clinical, molecular and cytogenetic features of 46, XX (SRY positive) male syndrome.

METHODSThe clinical features of 4 patients with 46, XX (SRY positive) male syndrome were analyzed retrospectively. Karyotyping, FISH, PCR amplification of the SRY gene, and Y-chromosome microdeletion were performed to study their molecular cytogenetic features.

RESULTSThe Four patients were all sociopsychologically males of short stature and came to hospital for infertility. Physical examination revealed that their testes were small in volume and soft in texture, but their penes were normal. Semen analyses showed complete azoospermia. Detection of serum sexual hormone suggested hypergonadotropic hypogonadism. All were karyotyped as 46, XX. Molecular analyses revealed the presence of the SRY gene and absence of AZFa, b and c of the Y chromosome. FISH analysis showed that SRY genes were translocated to Xp in 3 of the patients.

CONCLUSIONPhenotypically 46, XX (SRY positive) male patients are males generally, for the presence of the SRY gene in the whole genome and azoospermia due to the deletion of AZF. The clinical characteristics of the patient include testis dysgenesis, infertility and short stature. The long arm of the Y chromosome might contain the gene associated with body height. Extensive molecular and cytogenetic studies on 46, XX male syndrome may help to elucidate its genotype-phenotype relation.

Adult ; Body Height ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Estradiol ; blood ; Follicle Stimulating Hormone ; blood ; Genes, sry ; Gonadal Dysgenesis, 46,XX ; blood ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Luteinizing Hormone ; blood ; Male ; Polymerase Chain Reaction ; Prolactin ; blood ; Syndrome

BACKGROUND: Hypertension and atherosclerosis are bidirectionally related, while platelet count could serve as an indicator of endothelial repair. Therefore, high platelet counts could be associated with hypertension by indicating more intense endothelial repair activity. Furthermore, short stature has been shown to constitute a risk of atherosclerosis. Since inflammation-related single-nucleotide polymorphism (SNP (rs3782886)) is reportedly associated with myocardial infarction and short stature, rs3782886 could be associated with a high platelet count and thus more intense endothelial repair activity. METHODS: We conducted a cross-sectional study of 988 elderly Japanese who participated in a general health check-up. Short stature was defined as a height of at or under the 25th percentile of the study population, and high platelet count as the highest tertiles of the platelet levels. RESULTS: High platelet counts were found to be independently and positively associated with hypertension while rs3782886 was independently associated with high platelet levels and short stature. The classical cardiovascular risk factor-adjusted odds ratio (OR) and 95% confidence interval (CI) of high platelet count for hypertension was 1.34 (1.02, 1.77). With non-minor homo of the rs3782886 as the reference group, the adjusted OR and 95% CI for high platelet count and short stature of minor home were 2.40 (1.30, 4.42) and 2.21 (1.16, 4.21), respectively. CONCLUSION SNP (rs3782886) was shown to be associated with high platelet count and short stature. This result partly explains how a genetic factor can influence the impact of height on endothelial repair.
Aged ; Aged, 80 and over ; Blood Platelets ; metabolism ; Body Height ; genetics ; Cross-Sectional Studies ; Endothelium, Vascular ; physiology ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Hypertension ; blood ; epidemiology ; genetics ; Male ; Middle Aged ; Odds Ratio ; Platelet Count ; Polymorphism, Single Nucleotide

OBJECTIVEThe relationship between polymorphisms of ALAD and VDR genes and individual susceptibility of lead poisoning was investigated in children highly-exposed to lead.

METHODFour hundred and sixty-nine children were recruited into this study and the blood lead, ZPP, hemoglobin as well as three physical developmental indexes (head circumference, height and weight) were measured. VDR and ALAD gene polymorphisms were analyzed by the methods of PCR-RFLP.

RESULTSThe subjects with ALAD2 allele had higher ZPP level (10.12 micro mol/L vs 12.87 micro mol/L) (P = 0.017). The subjects with B allele has larger head circumference than only with b allele (51.19 cm vs 50.75 cm) (P = 0.028).

CONCLUSIONSIt was suggested that the ALAD gene polymorphism modified the relationship between blood lead and ZPP and the VDR gene variants influenced the skull development in children living under lead-polluted environment. The polymorphism of ALAD and VDR genes might serve as the molecular inherited factors modifying the susceptibility of lead poisoning.

Alleles ; Body Height ; drug effects ; genetics ; Body Weight ; drug effects ; genetics ; Child ; China ; epidemiology ; Environmental Pollution ; adverse effects ; Female ; Gene Frequency ; Genotype ; Humans ; Lead ; adverse effects ; blood ; Lead Poisoning ; epidemiology ; etiology ; genetics ; Male ; Polymorphism, Genetic ; Porphobilinogen Synthase ; genetics ; Receptors, Calcitriol ; genetics