Abstract Long noncoding RNA (lncRNA) is closely related to the pathogenesis of cancer,representing a burgeoning field in tumor research in recent years. MAGI2-AS3, a tumor-associated lncRNA, exerts pivotal roles in epigenetics, transcription and post-transcriptional regulation. Studies have suggested that MAGI2-AS3 may be involved in multiple stages of tumor development, and has potential applications for tumor diagnosis, therapy and prognosis. This review summarizes the expression, regulatory mechanism and clinical application value of MAGI2-AS3 in common malignant tumrs, providing the reference for tumor prevention and treatment.

Objective To identify the hairless gene mutations in a family of atrichia with papular lesions. Methods Skin biopsies were taken from typical lesions for histopathological examination. Genomic DNA was extracted from blood samples of the family members. Complete encoding sequences of hairless gene Dwere detected by polymerase chain reaction (PCR) and DNA sequencing. Results Compound heterozygous mutations were identified in the patient: G337D in exon 3 and Q498X in exon 4. There was only one of the mutations in his parents and a younger brother. Conclusions G337D and Q498X mutations in hairless gene seem to be responsible for the phenotypes in the patient suffered from atrichia with papular lesions.

Objective To explore the relationship between adrenarche and gonadarche.Methods Total 49 idiopathic central precocious puberty(ICPP)girls,whose serum dehydroepiandrosterone sulfate(DHEAS)Z scores for chronological age were higher than+2 s at diagnosis.were enrolled.Physical examinations during pubertal stage were repeated at 3-6 months intervals,and serum DHEAS levels were monitored yearly within an average period of 4.08 years.Of them,16 girls were followed up until more than one year after discontinuation of gonadotropin-releasing hormone analogue(GnRHa)treatment.Results Before GnRHa treatment,these49 girls presented a younger average age at attainment of pubic hair stage2(PH2)and pubic hair stage3(PH3)than normal(8.07 years vs 11.16 years,8.82 years vs 12.40 years respectively).During GnRHa treatment,the intervals between PH2 and PH3,PH3 and pubic hair stage4(PH4),breast stage 2(B2),and PH2 were longer than normal(1.69 years vs 0.83 years,1.64 years vs 0.60 years,and3.62 years vs 0.76 years respectively).The intervals between PH2 and PH3,as well as B2 and PH2 during GnRHa treatment were also longer than that before GnRHa treatment(1.69 years/35 0.88 years,3.62 years vs 1.13 years respectively).The serum DHEAS Z scores decreased during GnRHa treatment,and increased significantly after GnRHa cessation.Conclusion Gonadarche after age of 6-year-old may lead to earlier adrenarehe.GnRHa treatment might slow down the progression of adrenarche and suppress the hypothalamuspituitary-gonadal axis.

Objective To analyze the pattern of early catch-up growth In children with prepubertal short stature and various secretory forms of growth hormone(GH)following recombinant human growth hormone (rhGH)treatment and to explore the mechanism. Methods Sixty-two children with prepubertal short stature and various GH secretory forms were analyzed retrospectively, 27 with complete growth hormone deficiency (cGHD), 23 with partial growth hormone deficiency (pGHD)and 12 with idiopathic short stature(ISS). According to the GH peak value in GH provocative test, the group of pGHD was divided into pGHD-1(5.0-6.9μg/L)and pGHD-2(7.0-9.9μg/L). Height velocity, increase in height standard differentiation score (SDS), was calculated; serum levels of somatotrophic axis hormone were detected and bone age was determined. Results The quick early catch-up growth in different groups were similar in the initial 6 months. While that in the ISS group persisted for shorter period and was correlated with lower level in serum GH-binding protein(r=0.526,P=0.025)and Δinsulin-like growth factor-binding protein-3 (IGFBP-3) SDS (r=0.532,P=0.034) after rhGH treatment. The same doses of rhGH were applied to children with cGHD and pGHD. Children with pGHD-1 showed similar response to rhGH,regarding height velocity and ΔIGFBP-3 SDS, as compared with those of cGHD. However, children with pGHD-2 presented similar response with ISS, being worse than cGHD. Conclusion Downregulation of GH receptor and decrease in post-receptor effect seem to be the mechanism leading to early retardation in ISS. The incomplete catch-up growth in pGHD-2 may be caused by relatively inadequate rhGH dose. The cut-off value of GH provocative test in diagnosing GHD is more reasonable to be 7μg/L.

Objective To analyze the clinical characters of childhood adrenocortical tumors, and to enhance the knowledge of diagnosis of this disease. Methods A retrospective analysis of clinical characters,laboratory tests,and imaging findings in 31 cases of childhood adrenocortical tumors was carried out. Results 16 cases of adenoma and 15 cases of carcinoma were included. The average age was (4.49±3.51) years old, and 67.7% of the patients were younger than 5 years old. The ratio of male to female was 1.0: 1.4. 12 patients presented only precocious sexual development, 4 patients presented only Cushing syndrome, 10 patients showed sexual precocity combined with Cushing syndrome, and 5 patients did not have any endocrine abnormalities. Raised testosterone level in 92.3% of these patients was the most common finding in laboratory tests. Only 12.5% of ultrasound images and 20.8% of CT images were consistent with pathologic diagnosis. Conclusions The clinical manifestations of adrenocortical tumors in childhood are precocious sexual development, Cushing's syndrome, or nonfunctional. The common laboratory findings are elevation of sex hormone and disorder of cortisol circadian rhythm. Precocious sexual development and elevation of androgens are more common in childhood adrenocortical tumor than those in adults. Imaging usually cannot give proper diagnosis. Final diagnosis should be established by clinical features, laboratory tests, imaging, and pathologic results.

Objective To study the effect on body mass index ( BMI ) caused by treatment with Gonadotropin-releasing hormone analogs ( GnRHa) in girls with central precocious puberty ( CPP) or early and fast puberty ( EFP ) . Methods The BMI in 318 girls ( 227 CPP and 91 EFP ) treated with GnRHa alone was analyzed. Among them 89 were followed up to their final adult height. Results Before GnRHa treatment was started, thegirlswithCPPandEFPhadameanBMIstandarddeviationscore(SDS)forchronologicalage(BMISDSCA)of0.39 ±0.84andforboneage(BMISDSBA)of-0.11±0.69. Attheendoftreatment,themeanBMISDSCAwas0.59±1.01 and BMISDSBA was 0. 24 ± 0. 89, both were significantly higher than those at initiation. The increment in BMISDSBA (0.38±0.50)wasgreaterthanthatinBMISDSCA(0.21±0.56). Moreover,theratioofoverweight(BMI>85%)was significantly elevated. BMISDSCA of 89 girls who were visited at their final adult height was 0. 17 ± 1. 15, which was similar with BMISDS at initiation and in normal population. Conclusion The mean BMISDSCA of CPP and EFP was significantly higher than the general population, while BMISDSBA was significantly lower. During GnRHa treatment, BMISDS tended to be elevated. But it was reversible, for the mean BMISDS was back to normal at final adult height.

Objective To understand how serum DHEAS levels change with sex,age and stage of sexual maturation in children and adolescents and explore the relationship between adrenarche and pubertal maturatiotL Methods Serum samples from 120 healthy boys,198 healthy girls and 152 girls with idiopathic central precocious puberty (ICPP) were examined for DHEAS.Referenee ranges for healthy children and adolescents and statistical difierences between heahhy girls and ICPP girls were analyzed with respect to sex,age and stage of sexual maturation.Results Both healthy children and ICPP girls showed extremely low levels of serum DHEAS and they were not related to sex.age or tanner stages in the individuals below age of 6 years.Serum DHEAS levels were positively related to both age (above age of 6 years)and tanner stage in healthy groups(r=0.69 and 0.71 respectively,P＜0.01).After the onset of puberty,serum DHEAS levels appeared to be higher in boys than that in girls within the same tanner stage(P＜0.05).Within the individusis in the same age group with same sex.serum DHEAS levels increased along with pubertal development.While within the individuals in same tanner stage group with salne sex after puberty onset.serum DHEAS levels showed no significant difference among different age groups.For example.there was no difference in serum DHEAS levels of healthy girls in tanner stage Ⅲ among different age subgroups(age of8-9;age of 10-11,age of 12-13)and the mean vallie of serum DHEAS was 532.0-557.8μg/L(F=0.21,P=0.98).In different age subgroups above age of 6 years,Z scores for serum DHEAS in ICPP girls were highher than them healthy ones with advanced tanner stages(0.97us-0.1 and 1.39us-0.08,JP≤0.01)In different tanner stage subgroups.Z scores for serum DHEAS showed no difierence between healthy and ICPP girls despite apparent different age ranges(0.00 us-0.31-0.18,P＞0.05).Conclusions Serum DHEAS level increased along with both age (above 6 years) and tanner stage in healthy children and adolescents.There was no gender difference until the onset of puberty.It was demonstrated that adrenache and gonadarche were related to each other.Reference ranges for adolescents should be interpreted according to sex.age and tanner stage simultaneously.

[Summary]_ Transient neonatal diabetes mellitus is a kind of rare special types of diabetes. It should be distinguished from type 1 diabetes. Genetic analysis can be used to define the subtype of neonatal diabetes mellitus, which helps us to select the most appropriate treatment and to predict the disease recurrence. Sulfonylureas is able to improve insulin secretion in most patients with transient neonatal diabetes mellitus and provide effective glycemic control. A case of transient neonatal diabetes mellitus is reported in order to call attention to the diagnosis and treatment of this disease.

Forty girls with Turner's syndrome (TS),aged (12.6 ± 1.9) years,were treated with daily subcutaneous injection of recombinant human growth hormone (rhGH,1.0 ～ 1.1 IU · kg-1 · w-1) and oral stanozolol (0.02 ～ 0.04 mg · kg-1 · d-1) for 1 ～ 5 years.Growth velocity (GV),height standard deviation score (SDS) by reference of healthy Chinese girls (HtSDSNor) and height SDS by reference of untreated Chinese TS girls (HtSDSTs)were evaluated regularly.Of the forty girls studied,thirteen had discontinued the treatment after a mean duration of (2.9 ± 1.2)years when GV was less than 2 cm/year or when patients were satisfied with the achieved height.Final adult height (FAH) or near-final height,which was defined as the most recent available height after discontinuation of treatment,and the height gained in the thirteen girls were evaluated.Estrogen therapy was started at the age of(16.0 ± 1.1) years.HtSDSNor increased from-4.2 ± 1.0 to-3.4 ± 1.0 in the first year,and-2.8 ± 1.0,-2.4 ± 0.8,-2.5 ± 0.5,-2.3 ±0.3 respectively in the 2nd,3rd,4th,and 5th year.The change in HtSDSTs was similar to HtSDSNor.It was increased from 0.1 ± 0.9 to 1.0 ± 0.9 in the first year,and to 1.5 ± 0.8,1.9 ± 0.6,1.7 ± 0.4,1.7 ± 0.2 in the subsequent 4 years.The predicted adult height (PAH) in 13 girls was (142.8 ± 4.2) cm before treatment.FAH was (151.7 ± 4.1) cm,which was significantly higher than PAH (P＜0.01),and the mean height gain was (8.9 ± 2.8) cm (5.1 ～ 12 cm).FAHSDSNor was increased to-1.6 ± 0.8 from-3.8 ± 0.8.For girls with TS around 9 years of age,combined therapy with rhGH and low dosage of stanazolol may significantly increase growth velocity and improve final adult height.

Objective: To investigate the status of iodine nutrition and prevalence of goiter among children at ages of 8 to 10 years in Zhejiang Province in 2021, so as to provide insights into the management of iodine deficiency in children. Methods : A total of 90 counties (districts) were sampled as field survey sites from 11 cities of Zhejiang Province using a multi-stage stratified random sampling method in 2021, and non-residential children at ages of 8 to 10 years in these sites were sampled as study subjects. Subjects' household edible salt samples and random urine samples were collected. The iodine content in salt and urinary iodine level were determined using the direct titration method and arsenic-cerium catalytic spectrophotometry for evaluation of iodine nutrition among children. In addition, the lateral lobe of the thyroid gland was measured using ultrasound, and the prevalence of goiter was estimated. Results: A total of 19 363 children were recruited, including 9 710 male children and 9 653 female children, with a male to female ratio of 1.01︰1, and there were 10 704 urban children (55.28%) and 8 659 rural children (44.72%), 9 149 children living in coastal areas (47.25%) and 10 214 children in inland regions (52.75%). The mean iodine content was (19.79±9.25) mg/kg in salt, and the coverage of qualified iodized salt (15 252) was 78.77%. The coverage of qualified iodized salt was significantly lower in urban children than in rural children (76.70% vs. 81.21%; χ2=68.301, P<0.001), and was lower in children living in coastal regions than in inland regions (68.05% vs. 88.27%; χ2=1 270.769, P<0.001). The median urinary iodine concentration was 195.1 μg/L, and the household iodine content in salt correlated positively with urinary iodine concentration in children (rs=0.383, P<0.001). There were 2 885 children with iodine deficiency (14.90%), 7 137 children with adequate iodine (36.86%), 5 414 children with excessive iodine intake (27.96%), and 3 927 children with iodine overdose (20.28%), and the distribution of iodine nutrition in children varied significantly in regions (χ2=283.277, P<0.001) and gender (χ2=126.349, P<0.001). The prevalence of goiter was 2.45% among 7 195 children receiving ultrasound examinations, and a higher prevalence rate of goiter was detected in urban children than in rural children (2.76% vs. 2.00%; χ2=3.962, P=0.047). Conclusions The overall urinary iodine nutrition was adequate among children at ages of 8 to 10 years in Zhejiang Province in 2021, and the prevalence of goiter in children fell within the threshold defined in the criteria of elimination of iodine deficiency. However, the supervision of the iodized salt quality remains to be improved and iodine deficiency control remains to be reinforced.