Comparison of Postnatal Growth Charts of Singleton Preterm and Term Infants Using World Health Organization Standards at 40-160 Weeks Postmenstrual Age: A Chinese Single-Center Retrospective Cohort Study.

There remains controversy regarding whether the growth charts constructed from data of term infants, such as those produced by the World Health Organization (WHO) standards, can appropriately evaluate the postnatal growth of preterm infants. This retrospective cohort study, conducted in the First Affiliated Hospital of Shandong First Medical University in Jinan China, aimed to compare the postnatal growth charts of singleton preterm and term infants using WHO standards at 40-160 weeks postmenstrual age (PMA). A total of 5,459 and 15,185 sets of longitudinal measurements [length/height, weight, head circumference (HC), and body mass index (BMI)] from birth to 160 weeks PMA were used to construct growth charts for 559 singleton preterm (mean PMA at birth, 33.84 weeks) and 1,596 singleton term infants (born at 40 weeks PMA), respectively, using the Generalized Additive Models for Location, Scale, and Shape (GAMLSS) method. Z-scores (prematurity corrected) were calculated using WHO Anthro software. Compared to WHO standards, all parameters of preterm infants were increased, especially in terms of length/height and weight; the gap between the two almost spanned two adjacent centile curves. Compared to term controls, the length/height, weight, and BMI of preterm infants were higher at 40 weeks PMA, surpassed by term infants at 52-64 weeks PMA, and quite consistent thereafter. The HC of preterm infants at 40-160 weeks PMA was quite consistent with both term controls and the WHO standards. The Z-scores for length/height, weight, and BMI of preterm infants relative to the WHO standards gradually decreased from 1.20, 1.13, and 0.74 at 40-44 weeks PMA to 0.67, 0.42, and 0.03 at 132-160 weeks PMA, respectively; Z-scores for HC of preterm infants rapidly decreased from 0.73 to 0.29 at 40-50 weeks PMA, and then fluctuated in the range of 0.08-0.23 at 50-160 weeks PMA. Preterm infants had higher growth trajectories than the WHO standards and similar but not identical trajectories to term infants during the first 2 years of life. These findings reemphasize the necessity of constructing local growth charts for Chinese singleton preterm infants.

Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency.

BACKGROUND: Steroid 21-hydroxylase deficiency (21OHD) is the most common enzymatic defect, but the genotype-phenotype associations have not been well established in Chinese patients. Here, a Chinese 21OHD cohort was enrolled to investigate the clinical, biochemical, and genetic characteristics of this disorder. METHODS: Mutation analysis of CYP21A2 gene, 21-hydroxylase activity assays and in silico predictions of protein structure were performed. Genotype-phenotype associations were analyzed in both the cohort and 487 Chinese CAH patients ever reported. RESULTS: Among the total cohort (72 patients), 47 patients (65.3%) were diagnosed as salt-wasting (SW) phenotype, 11 (15.3%) were simple virilizing (SV) type, and 14 (19.4%) were nonclassic (NC) type. The value of FSH and LH for prediction of the SW phenotype was up to 0.862 and 0.669, respectively. Overall, the detection rate of CYP21A2 mutation was 97.9%, which revealed 25 mutations and 36 genotypes. Four novel mutations (p.L199X, p.E321del, p.H393Q, and p.L459-P464del) were detected and induced a significantly reduced 21-hydroxylase activity. Generally, disease severity can be predicted with the genotypes. The most common genotypes in Chinese population were I2G/I2G (12.5%), I2G/Large lesion (12.1%), I173N/I2G (10.3%), and I173N/Large lesion (9.2%). The SW form of CAH is prominent in deletion or intronic splice mutations, namely I2G/I2G (18.6%), I2G/Large lesion (17.2%) and Large lesion/Large lesion (8.6%). CONCLUSION: Four novel mutations were identified and a high consistency of genotype-phenotype association was found in SW CAH. Moreover, FSH and LH levels were proved to be a promising marker for predicting the severity of the disease.

Insulin-like growth factor 1 and metabolic parameters are associated with nonalcoholic fatty liver disease in obese children and adolescents.

AIM: Few studies have investigated the relationship between paediatric nonalcoholic fatty liver disease (NAFLD) and insulin-like growth factor 1 (IGF-1). This study, carried out from July 2013 to September 2015, aimed to fill the gap and added metabolic parameters to the analysis. METHODS: This was a cross-sectional study of 168 obese children and adolescents (84% male), divided into two groups based on the presence (n = 90) or absence (n = 78) of NAFLD. All participants underwent clinical examinations, anthropometric and laboratory examinations and liver ultrasonography. RESULTS: Nonalcoholic fatty liver disease patients had significantly lower IGF-1 standard deviation score (IGF-1 SDS) and higher body mass index (BMI), homeostasis model assessment of insulin resistance (HOMA-IR) and uric acid levels than the control group. The prevalence rate of NAFLD was negatively correlated with the IGF-1 SDS. IGF-1 SDS was negatively associated with NAFLD, while BMI, HOMA-IR and uric acid were positively associated with NAFLD. The combined analysis of the area under the receiver operating characteristic curve for multiple variables, including IGF-1 SDS, BMI, HOMA-IR and uric acid, was 0.812, with a sensitivity of 78.89% and specificity of 74.36%. CONCLUSION: IGF-1, BMI, HOMA-IR and uric acid were useful markers of NAFLD in obese children and adolescents.