RESUMO
OBJECTIVE: The following study investigated the serum adiponectin, chemerin and vaspin levels and their relationship with body mass index (BMI), glucose and lipid metabolism in girls with Turner Syndrome (TS). METHODS: A total of 64 girls with TS (mean age, 12.22⯱â¯3.98â¯years; mean BMI, 18.90⯱â¯3.45â¯kg/m2) were ascertained by chromosome analysis. Height, weight, waist circumference, hip circumference and blood pressure were measured, as well as the levels of fasting plasma glucose (FPG), fasting plasma insulin, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), and triglyceride (TG). The BMI, BMI standard deviation score (SDS), waist to hip ratio, waist to height ratio and insulin resistance index (HOMA-IR) were calculated. The TS group and the control group were subdivided into non-puberty or puberty subgroup. RESULTS: The TS group had higher waist to hip ratio and waist to height ratio compared to the control group. There was no significant difference in FPG, fasting plasma insulin, HOMA-IR, blood lipid and blood pressure between the two groups. Significantly higher serum levels of adioponectin (12.51⯱â¯4.58⯵g/ml) and chemerin (173.71⯱â¯37.88â¯ng/ml) and significantly lower levels of vaspin (0.67⯱â¯0.47â¯ng/ml) were found in the TS group compared to the control group (9.30⯱â¯3.17⯵g/ml, 159.43⯱â¯23.19â¯ng/ml and 1.06⯱â¯0.49â¯ng/ml, respectively) (all Pâ¯<â¯0.05). In the TS group, adiponectin levels were negatively correlated with age, BMI and TG (râ¯=â¯-0.251, -0.247, -0.294, Pâ¯<â¯0.05 for all). In the control group, adiponectin levels were negatively correlated with BMI and BMI SDS (râ¯=â¯-0.416 and -0.315, Pâ¯<â¯0.05 for both), while vaspin levels were positively correlated with age, fasting plasma insulin and HOMA-IR (râ¯=â¯0.257, 0.273 and 0.282, Pâ¯<â¯0.05 for all). In addition, significantly higher levels of adiponectin were found in the non-puberty subgroup (13.88⯱â¯4.49)⯵g/ml compared to puberty subgroup (9.72⯱â¯3.39)⯵g/ml (Pâ¯<â¯0.05), while no significant differences in chemerin and vaspin were found between the two TS subgroups. CONCLUSIONS: Elevated adiponectin and chemerin levels and significantly reduced vaspin were found in girls with TS. Puberty or estrogen replacement therapy may reduce adiponectin in girls with TS.
Assuntos
Adipocinas/sangue , Síndrome de Turner/sangue , Síndrome de Turner/metabolismo , Adolescente , Glicemia/fisiologia , Índice de Massa Corporal , Peso Corporal/fisiologia , Quimiocinas/sangue , Criança , Pré-Escolar , Feminino , Humanos , Insulina/sangue , Resistência à Insulina/fisiologia , Lipídeos/sangue , Obesidade/sangue , Serpinas/sangue , Triglicerídeos/sangue , Síndrome de Turner/fisiopatologia , Circunferência da Cintura/fisiologia , Relação Cintura-Quadril/métodosRESUMO
OBJECTIVE: To explore the changes in T helper lymphocytes and their subsets in children with tic disorders (TD) and their clinical significance. METHODS: Flow cytometry was used to measure the percentages of T helper lymphocytes and their subsets in the peripheral blood of children with TD and healthy children (controls). RESULTS: The percentage of T helper lymphocytes was significantly lower in the TD group than in the control group (P<0.001). The abnormal rate of T helper lymphocytes in the TD group was significantly higher than that in the control group (68.7% vs 18.8%; P<0.001). The percentage of T helper lymphocytes was negatively correlated with Yale Global Tic Severity Scale score (r=-0.3945, P<0.001). As for the subsets of T helper lymphocytes, the TD group had a significantly higher percentage of Th1 cells and a significantly lower percentage of Th2 cells compared with the control group (P<0.001). CONCLUSIONS: The abnormality of T helper lymphocytes and the imbalance of their subsets may be associated with the pathogenesis of TD in children. The percentage of T helper lymphocytes can be used as an indicator for assessing the severity of TD.
Assuntos
Subpopulações de Linfócitos T/imunologia , Linfócitos T Auxiliares-Indutores/imunologia , Transtornos de Tique/imunologia , Criança , Pré-Escolar , Feminino , Citometria de Fluxo , Humanos , Contagem de Linfócitos , Masculino , Células Th1/imunologia , Células Th2/imunologia , Transtornos de Tique/genéticaRESUMO
OBJECTIVE: Familial male-limited precocious puberty (FMPP) is due to constitutive activation of a mutant luteinizing hormone/choriogonadotropin receptor (LH/CGR) leading to elevated testosterone synthesis in testicular Leydig cells. In the present study, we have analyzed the LHCGR gene for members of a Chinese FMPP family. METHODS: Physical examinations have included assessment of penile length, testicular volume and pubic hair. Bone age assessment, levels of testosterone and gonadotropin-releasing hormone (GnRH) stimulations tests were measured. DNA was extracted from blood samples of the proband and his parents using an QIAGEN Blood DNA Mini Kit. The 11 exons of LHCGR gene were amplified using an AmpliTaq PCR system, and the PCR products were sequenced using an ABI3130xl Genetic Analyzer. RESULTS: The affected boy was 3 year and 1 month old and showed typical clinical manifestation of peripheral precocious puberty. His height was 116.8cm (+5.1s) and Tanner stages were PH 2. Testicular volume was 8 mL bilaterally, penile was 8.5 cm × 2.5 cm. Basal testosterone was 2310 ng/L and bone age was 9 years. GnRH stimulation test revealed a prepubertal response to gonadotropin. The peak of LH was 2.66 IU/L, and the peak of FSH was 1.03 IU/L. Upon sequencing exon 11 of the LHCGR, a heterozygous point mutation of nucleotide 1703 from C to T was detected, which resulted in an amino acid transition from Ala (GCC) to Val (GTC) at position 568. Thus the mutation of LHCGR gene was confirmed to be constitutively active. After treating with aromatase inhibitors for half a year, the patient showed an increase in bone age and height by half a year and 4 cm, respectively. The same point mutation was detected in the patient's father, but did not have any influence on his puberty development. CONCLUSION: A novel point mutation of the LHCGR gene has been identified in a family affected with FMPP. The c.1703C>T mutant LHCGR was confirmed to be constitutively active, which has led to maturation and proliferation of Leydig cells. The variable phenotype within the family suggested variable expressivity of the disease.
Assuntos
Mutação , Puberdade Precoce/genética , Receptores do LH/genética , Adulto , Substituição de Aminoácidos , Sequência de Bases , Pré-Escolar , Códon , Éxons , Humanos , Masculino , Modelos Moleculares , Conformação Proteica , Puberdade Precoce/diagnóstico , Receptores do LH/químicaRESUMO
OBJECTIVE: To study the causes and prognosis of peripheral precocious puberty. METHODS: The levels of follicle stimulating hormone (FSH), luteinizing hormone (LH) and estradiol (E2) were detected by a simplified gonadotrophin-releasing hormone (GnRH) stimulation test. The etiologies of 125 children with peripheral precocious puberty were explored by ultrasound scans and bone age assessment. A total of 102 cases were followed up for 3 months to 7.5 years. RESULTS: The etiological distribution of these children was as follows: exogenous hormones intake (n=80), ovarian cyst (n=11), McCune-Albright syndrome (n=11), congenital adrenal hyperplasia (CAH) (n=5), ovarian teratoma (n=1), masculine adrenal tumor (n=1), feminine adrenal tumor (n=1), and handle pituitary tumor (n=1). The causes in 14 cases were unknown. Follow-up showed that the sexual characteristics of 72 cases due to exogenous hormones intake subsided after 1-6 months. Of 11 cases with ovarian cysts, the sexual characteristics subsided spontaneously in 8 cases after 1 to 4 months, but one case was transformed to central precocious puberty after 2 years and three months. One child with ovarian cysts underwent an operation and than the sexual characteristics subsided. The sexual characteristics of the patient who had an ovarian teratoma subsided after operation. The clinical symptoms of children with McCune-Albright syndrome or CAH were alliaviated partly after treatment, and 7 cases were transformed to central precocious puberty. The clinical symptoms of 2 cases of adrenal tumors subsided after operation. One child with handle pituitary tumor died one year after operation. CONCLUSIONS: Varied causes may contribute to peripheral precocious puberty and therefore must be carefully identified through history taking, physical examination, and auxiliary examinations. The prognosis may differ for patients with different etiologies of peripheral precocious puberty.
Assuntos
Puberdade Precoce/etiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Prognóstico , Puberdade Precoce/diagnóstico , Puberdade Precoce/terapiaRESUMO
BACKGROUND: The interaction of adropin, glucagon-like peptide-2 (GLP2), angiopoietin-like protein 4 (ANGPTL4), and with childhood obesity and glucose metabolism is inconsistent. This study is to evaluate the association of the three cytokines and glucose homeostasis. METHODS: This was a cross-sectional study of children with obesity ranging from 5 to 14 years compared to age- and sex-matched children of normal weight. Fasting plasma glucose (FPG), oral glucose tolerance test 2-hour plasma glucose (OGTT2hPG), and insulin (INS) were measured, and serum adropin, GLP2, and ANGPTL4 levels were measured by enzyme-linked immunosorbent assay. The body mass index (BMI), BMI-Z scores, waist-to-hip ratio (WHR), and homeostasis model assessment of insulin resistance (HOMA-IR) were calculated. RESULTS: Thirty-nine children (9.70 ± 1.71 years, 18 females) with obesity and 29 normal weight children (8.98 ± 1.98 years, 16 females) were assessed. The levels of INS, HOMA-IR and GLP2 of the obesity group were significantly higher than the controls (P < 0.05). Pearson correlation analysis showed that serum GLP2 was positively associated with WHR, FPG, and OGTT2hPG, and adropin was negatively associated with BMI, BMI-Z, WHR, INS, and HOMA-IR (all P < 0.05). Furthermore, GLP2 were negatively associated with adropin and ANGPTL4 (both P < 0.05). By binary logistic regression, adropin and GLP2 were found to be independent markers of obesity. Multiple linear regression showed that GLP2 was associated with OGTT2hPG, and adropin was associated with INS and HOMA-IR (all P < 0.05). CONCLUSIONS: Obese children had elevated GLP2 concentrations, and adropin and GLP2 associated with both childhood obesity and glucose homeostasis. Furthermore, there may be a physiologic interplay between adropin and GLP2 in obese children.
Assuntos
Proteína 4 Semelhante a Angiopoietina/fisiologia , Peptídeo 2 Semelhante ao Glucagon/fisiologia , Glucose/metabolismo , Peptídeos e Proteínas de Sinalização Intercelular/fisiologia , Obesidade Infantil/metabolismo , Criança , Estudos Transversais , Feminino , Teste de Tolerância a Glucose , Homeostase , Humanos , MasculinoRESUMO
AIM: The aim of this study was to determine the prevalence of autoimmune thyroid disease in Turner syndrome (TS) and the association between thyroid autoantibodies (TAA), thyroid dysfunction, age, and karyotype. METHODS: Sixty-nine girls with TS were divided into two groups according to being TAA-positive or TAA-negative. TAA and thyroid hormone concentrations were determined by immunochemiluminescence. RESULTS: One third (23/69) of the girls were TAA positive, with antibody prevalence increasing with age. Of the TAA-positive girls, seven were hypothyroid and three hyperthyroid. Compared with the TAA-negative group, the girls in the TAA-positive group were significantly older (p<0.05). For those who were TAA positive, 26.3% of patients were 5-10 years old, 37.1% 10-15 years old, and 62.5% above the age of 15 years. CONCLUSION: Chinese girls with TS are prone to Hashimoto's thyroiditis, especially those older than 5 years, and routine thyroid testing is advocated thereafter on a yearly basis. There was no specific association between the incidence of autoimmune thyroid disease and TS karyotypes.