Clinical and genetic features of Kallmann syndrome: an analysis of 5 cases / 中国当代儿科杂志

Kallmann syndrome (KS) is a rare pediatric disease with major manifestations of olfactory dysfunction and hypogonadotropic hypogonadism. Five children (4 boys and 1 girl) with KS reported in this article were aged between 6 months and 19 years at the time when they attended the hospital. All the children had the clinical manifestation of hypogonadotropic hypogonadism; in addition, three children had olfactory dysfunction (two were found to have olfactory bulb dysplasia on magnetic resonance imaging), one had cleft lip and palate, and one had micropenis and cryptorchidism with right renal agenesis during infancy. All the five children had normal karyotype and their parents had normal clinical phenotypes. The uncle of one child had underdeveloped secondary sexual characteristics and olfactory disorder since childhood. High-throughput sequencing found two known heterozygous missense mutations in the FGFR1 gene, i.e., c.1097C>T(p.P366L) and c.809G>C(p.G270A), in two children. One child had a novel frameshift mutation, c.1877_1887/p.S627Tfs*6, in the KAL1 gene; this deletion mutation caused a frameshift in base sequence and produced truncated proteins, which led to a significant change in protein structure, and thus it was highly pathogenic. It is concluded that KS has great clinical and genetic heterogeneity and can be accompanied by incomplete dominant inheritance and that gene detection helps with the diagnosis of this disease.

A clinical follow-up study of premature thelarche in infants under two years of age / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical status and natural course of premature thelarche (PT) in infants under 2 years of age and to analyze the predictive factors for regression of thelarche.</p><p><b>METHODS</b>The clinical and laboratory data of 863 infants under 2 years of age, who visited the department of endocrinology in our hospital due to PT between October 2009 and September 2010, were analyzed. A a longitudinal follow-up study was performed.</p><p><b>RESULTS</b>Of the infants under 2 years of age with isolated PT, 89.3% showed a regression before the age of 3 years (mean 17±5.6 months), 10.7% had recurrent or persistent thelarche, with no regression after the age of 3 years, and some even developed into central precocious puberty. The independent predictive factors for regression of thelarche were Tanner stage at the first visit and whether baseline estradiol level had increased.</p><p><b>CONCLUSIONS</b>PT in infants under 2 years of age is not rare in the clinical setting, and it usually runs a self-limited course, subsiding before the age of 3 years. However, regular follow-ups should be performed for infants aged over 2 years with persistent thelarche.</p>

Non-high-density-cholesterol as a predictor of non-lipid cardiovascular disease risk factors in obese children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the role of non-high density lipoprotein cholesterol (non-HDL-C) in the assessment of cardiovascular disease (CVD) risk factors such as hypertension, pre-diabetes and diabetes in obese children.</p><p><b>METHODS</b>According to the presence of complications (hypertension, pre-diabetes and diabetes), 810 children with central obesity were divided into two groups: one group with complications (n=499) and one group without complications (n=311). One hundred and sixty-four age- and sex-matched children served as the control group. Logistic regression analysis and receiver operating characteristic (ROC) curves were used to analyze the detection of non-lipid CVD risk factors by seven lipid markers.</p><p><b>RESULTS</b>The prevalence rates of hypertension and pre-diabetes were significantly higher in obese children with high non-HDL-C concentrations (≥3.76 mmol/L). After adjusting for waist circumference Z-scores, the area under the ROC curve for non-HDL-C was 0.680 to detect non-lipid CVD risk factors, while the areas for low-density lipoprotein cholesterol, total cholesterol and apoprotein B were 0.659, 0.669 and 0.647 respectively.</p><p><b>CONCLUSIONS</b>Compared with the other lipid markers, non-HDL-C is a better predictor for non-lipid CVD risk factors in obese children. Measurement of non-HDL-C concentations is recommended for obese children.</p>

Establishment of rabbit model of juvenile nonalcoholic steatohepatitis / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To establish a rabbit model of juvenile nonalcoholic steatohepatitis (NASH) for further study.</p><p><b>METHODS</b>Twenty-eight New Zealand rabbit pups were fed with a high-fat diet (standard diet+10 % lard+2 % cholesterol) for 8 or 12 weeks as the two model groups, and 10 rabbits were fed with standard diet as the controls. Liver tissue samples were collected for Heamatoxylin-Eosin staining and pathological examination.</p><p><b>RESULT</b>Typical histological hepatic lesions of NASH were observed in both model groups. Compared with control group, model groups showed a significant increase in serum ALT, AST, TG, TC levels (P <0.01), and decrease in serum adiponectin, IL-10 levels (P <0.05), meanwhile there was no significant difference between two model groups. TC and the degree of liver fatty infiltration were independent determinants of serum adiponectin level by stepwise multiple regression, beta=-1.33, P=0.006 and beta=-0.97, P=0.038, respectively, R square equal to 0.294.</p><p><b>CONCLUSION</b>The juvenile steatohepatitis rabbit model has been established and the level of adiponectin can partly reflect the severity of liver steatosis.</p>