Qiuli Chen

Clinical characteristics of adrenocortical tumors in children.

Abstract Background: Adrenocortical tumors (ACTs) are rare in children. Because of the rarity and various manifestations of ACTs, patients of ACTs are not easily diagnosed. Some patients were misdiagnosed before surgery. Objective: Identify the clinical, laboratorial, imaging and histopathological characteristics of adrenocortical tumors in children. Compare adrenalcortical adenoma with carcinoma. Methods: A retrospective review of 34 identified patients who were younger than 15 years old with histologic confirmation of adrenocortical carcinoma (ACC) or adenomas from 1991 to 2010. Results: In these 34 patients, 19 were adrenocortical adenoma (ACA) and 15 were ACC. The median age at diagnosis was 3.33 years (range, 0–16 years), and 70.6% of the patients were younger than five years. Girls slightly predominated over boys (1.4:1). For endocrine abnormality, 14 patients had isolated precocious puberty, five patients had isolated Cushing syndrome, 10 patients had precocious puberty plus Cushing syndrome, and five patients did not have any symptoms. The most frequent findings in laboratory tests were disturbance of the normal circadian rhythm of cortisol secretion (93.8%), followed by elevated serum level of testosterone (89.7%). Only 3.8% of ultrasound diagnosis and 12.1% of computed tomography (CT) diagnosis were consistent with pathologic diagnosis. Conclusion: Different from those in adult, the most frequent presentation in children with ACTs is peripheral precocious puberty with or without Cushing syndrome, and isolated Cushing’ syndrome. Few present with non-functional local mass. Laboratory tests usually reveal the discordantly elevated serum levels of sexual corticosteroid hormones, change of diurnal rhythm of cortisol or increase of morning cortisol. The differentiation of malignant from benign tumor cannot merely depend on imaging. Final diagnosis relies on comprehensive evaluation of clinical manifestations, laboratory data, imaging and pathology.

Associations between Serum Apelin-12 Levels and Obesity-Related Markers in Chinese Children

Objective To investigate possible correlations between apelin-12 levels and obesity in children in China and associations between apelin-12 and obesity-related markers, including lipids, insulin sensitivity and insulin resistance index (HOMA-IR). Methods Forty-eight obese and forty non-obese age- and gender-matched Chinese children were enrolled between June 2008 and June 2009. Mean age was 10.42±2.03 and 10.86±2.23 years in obesity and control groups, respectively. Main outcome measures were apelin-12, BMI, lipids, glucose and insulin. HOMA-IR was calculated for all subjects. Results All obesity group subjects had significantly higher total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), insulin levels and HOMA-IR (all P<0.05). In separate analyses, obese girls had significantly higher LDL-C, insulin and HOMA-IR than controls, and obese boys had significantly higher TC, TG, insulin and HOMA-IR than controls (all P<0.05). Apelin-12 levels were significantly higher in obese girls compared to controls (P = 0.024), and correlated positively with TG in all obese subjects. Among obese girls, apelin-12 levels correlated positively with TG, insulin and HOMA-IR after adjusting for age and BMI. In all boys (obese and controls) apelin-12 was positively associated with fasting plasma glucose (FPG). No significant correlations were found in either group between apelin-12 levels and other characteristics after adjusting for age, sex, and BMI. Conclusions Apelin-12 levels are significantly higher in obese vs. non-obese girls in China and correlate significantly with obesity-related markers insulin, HOMA-IR, and TG. Increased apelin-12 levels may be involved in the pathological mechanism of childhood obesity.

Low serum adiponectin levels are associated with reduced insulin sensitivity and lipid disturbances in short children born small for gestational age

Being born as small for gestational age (SGA) has an increased risk of developing metabolic/cardiovascular disturbances in later life. The role of adiponectin in the metabolic disturbance in SGA children remained undefined.

Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene

Abstract Fanconi-Bickel syndrome (FBS) is a rare inherited disease caused by mutations in the glucose transporter 2 gene, SLC2A2. We reported the first two Chinese cases of FBS. Both cases presented typical clinical features of hepatomegaly, hypophosphatemic rickets, severely stunted growth, fasting hypoglycemia along with postprandial hyperglycemia, and proximal renal tubular dysfunction with disproportionately severe glucosuria. Genetic analysis of SLC2A2 gene revealed novel compound heterozygous mutations in both patients. The characteristics of being born as small for gestational age and apparent liver dysfunction in our cases have been seldom discussed in the literature. It seems FBS patients in general have lower birth weight than normal, but further data collection is still needed. Symptomatic treatments were effective, but the serum transaminase of patient 2 remained moderately increased, and he patient needed further follow-up. The present study will supplement the up-to-date clinical characteristic spectrum for FBS.

Therapeutic effects of growth hormone combined with low‐dose stanozolol on growth velocity and final height of girls with Turner syndrome

Turner syndrome (TS), which is characterized by short stature and gonadal dysfunction, is managed by pharmacotherapy. This study aimed to investigate the therapeutic effects of recombinant human growth hormone (rhGH) combined with low‐dose stanozolol on the growth and final adult height (FAH) of girls with Turner syndrome (TS).

Serum aminoterminal proctype natriuretic peptide in girls with idiopathic central precocious puberty during GNRHA treatment

The mechanism of linear growth reduction during GnRHa treatment in central precocious puberty has not been elucidated.

Final height outcome of boys with idiopathic central precocious puberty treated with gonadotropin-releasing hormone analogue

Methods Twenty boys with ICPP were treated with GnRHa for (20. 0 ± 6. 1) months. At the beginning of therapy, mean chronological age and bone age was(11. 4 ± 1. 0) years and(13. 0 ± 0. 4) years, respectively. GnRHa was discontinued when the boys reached the chronological age and bone age of (13. 2 ± 1. 1) years and (13. 7 ± 0. 6) years, respectively. At the conclusion of the study, all the boys had been followed up for (3. 3 ± 1. 5) years and had achieved adult height. Comparisons were made among their predicted adult height(PAH), final adult height(FAH),and target height (THt). The long term outcome of final adult height in boys with ICPP was investigated after GnRHa treatment.