0.05). (2)Carbohydrate, protein and fat intake in GDM group (as % kJ) was 51.9?7.2,17.5?0.9 and 30.6?1.3, respectively. Carbohydrate, protein and fat intake in NP group (as % kJ) was 53.6?8.1, 18.3?1.1 and 28.1?2.3 respectively. Fat intake (as % kJ) in GDM group was significantly higher than that in NP group (P0.05). (3) Polyunsaturated fatty acids(PUFA) in GDM group (as % kJ) (8.3?0.5) was lower than that in NP group (10.1?0.4)(P

110 patients under three years of age with pneumonia were admitted to this hospital in a period from August of 1982 to March of 1983. There were 68 males and 42 females. The patients were randomly divided into Group A and Group B .The symptoms and signs, the laboratory data, and the severity and duration of the illness of the patients of both groups were similar.After admission, laboratory examinations including WBC counts, throat swab cultures and determinations of immunity function were performed and chest x-ray films were taken for all the patients. Regular treatments were given to all of them but the patients of Group A received TDP radiation in addition.After comparing the clinical courses of the two groups, the authors found that TDP could cause more rapid disappearance of cough and moist rales in the lungs, shorten the time of recovery and the whole course of hospitalization, and hasten the absorption of pulmonary infiltrations as seen from the x-ray films. Furthermore, TDP is helpful to promote the immunity function by raising many immune indices. And the rate of lymphocyte transformation was also increased. Its influence on the bringing down of the fever to normal is not very remarkable.It is concluded that TDP radiation is a simple, safe and effective treatment for pneumonia and it is suitable to be used in children.

110 cases of infantile diarrhoea were admitted to this institute in a period from Aug. 30 to Dec. 22 of 1982.The patients were randomly divided into two groups, the TDP group and the control group. The general condition and the age distribution of the patients of both groups were similar. The patients of the TDP group received only TDP radiation instead of antibiotics and those of the control group received antibiotics therapy but no TDP. Other treatments such as fluid replacement, dietary regulation, etc, were the same in two groups. Stool samples were sent for routine examination and bacterial culture and blood samples for the determinations of the electrolyte levels, CO2CP, and immunity function for all the patients right after admission as well as just before discharge. The cure rate and course of the disease were similar in two groups. However the pathogenic organisms could still be revealed in the stool of the patients of the TDP group after recovery. But the rate of lymphocyte transformation was significantly higher in the patients of TDP group.It is concluded that TDP radiation is a simple, safe and effective treatment for infantile diarrhoea but its therapeutic mechanism remains obscure.

Objective To observe the final adult height (FAH) outcome and influencing factors in Turner′s Syndrome(TS) children treated with recombinant human growth hormone ( rhGH ).Methods Thirty TS children treated with rhGH were compared with 16 TS children without rhGH treatment and were followed up to achieve their FAH.Comparisons were made regarding predicted adult height (PAH),height standard deviation score for chronological age( HtSDScA ),height SDS for BA( HtSDSRA ),and growth velocity ( GV ) between rhGH treatment and without treatment groups and between the onset and by the end of rhGH treatment group.The factors determining FAH were also evaluated.Results FAH in rhGH treatment group was obviously improved as compared with untreatment group[ ( 149.5±6.3 vs 142.4±5.2) cm,P＜0.01 ].FAH in treatment group was positively correlated with height standard deviation score for chronological age ( Ht0 SDSCA ),Hto SDS for BA ( Hto SDSBA ),height age ( HA0 ) at preliminary diagnosis,and correlated with duration of rhGH therapy,duration of estrogen-free rhGH therapy,and PAH0SDS at preliminary diagnosis.Stepwise regression analysis indicated that duration of estrogen-free rhGH therapy and PAH0 SDS were the variables with the greatest identified influence on FAH (F =11.56 and F =86.91,P＜ 0.01 ).FAH in the 45,XO group was significantly different from the mosaicism group (45,XO/46,XX ) [ ( 147.2 ± 6.3 vs 153.3±6.4) cm,P =0.038].Conclusion rhGH treatment is efficacious in improving FAH of TS children,but a variability in the magnitude of the response to rhGH is recognized.Duration of estrogen-free rhGH therapy and PAH0SDS are the variables with the greatest identified influence on FAH,and karyotype may be one of the influence factors.rhGH treatment should be initiated as early as possible and sufficient course of estrogen-free rhGH therapy is needed to yield a satisfactory FAH.

Objective To assess the efficacy of gonadotropin-releasing hormone analogue(GnRHa)with or without recombinant human growth hormone(rhGH)treatment in Chinese short pubertal children with non-growth hormone deficiency.Methods Of 42 short pubertal children(14 males,28 females)without growth hormone deftcieney,the average age was(11.6±0.8)year.30 children were treated with slow release GnRHa with initial dose (100μg·kg-1·d-1,28d)and maintenance dose(60-80μg·kg-1·d-1,28d)labd rgGH with initial dose(0.15IU·kg-1·d-1)and maintenance dose(0.10-0.15IU·kg-1·d-1)for at least 1year.16 of them were still ongoing till the end of the second year.12 children were treated with GnRHa alone by initial dose(100μg·kg-1·d-1,28d)and maintenance dose (60-80μg·kg-1·d-1,28d),and 7 of them remained on it for 2 years.Dynamic changes including annual growth velocity(GV),bone age(BA)/chronologic age(CA)ratio,Tanner stage,height SDS for CA (HtSDSCA),height SDS for BA(HtSDSBA),and predicted adult height (PAHSDS)were observed.Results By the end of the first year tretment with combination therapy,the following parameters:GV,HtSDSCA,HtSDSBA,and PAHSDS all increased significantly(all P<0.05).Treatment with GnRHa alone did not yield significant changes in GV,HtSDSCA,HtSDSBA,and PAHSDS(all P>0.05).Changes in GV,HtSDSBA,and PAHSDS between these two groups were statistically significant(all P<0.05).By the end of the second year treatment,in the combination group,GV slowed from 6.7 to 5.5 cm/year(P<0.05).HtSDSCA,HtSDSBA,PAHSDS increased(all P<0.05).In the group with GnRHa treatment alone,GV slowed from 4.0 to 3.6 cm/year(P>0.05).HtSDSCA,HtSDSBA,PAHSDS increased(all P>0.05).Changes in GV,HtSDSCA,HtSDSBA,and PAHSDS between these 2 groups were statistically significant respectively(all P<0.05).Conclusion This combined treatment regimen significantly impreved the growth by increasing growth rate and delaying bone matumtion in pubertal chidren without growth hormone deficiency.Further study is needed to verify beneficial effects on the final height gain.

Objective To investigate the effects of diets with different calorie and nutritional values on pubertal onset in female rats. Method Female Wistar rat models receiving calorie-deprived (group R) (Experiment 1) ,fat-rich(group F) ,glucose-rich(group G) and protein-rich(group P) (Experiment 2) test diets were established,and rats receiving diets with normal caloric value were considered as control group (group C). The body weight (BW) ,food-intake and vaginal patency (VP) were observed. The rats were killed at the day of vaginal patency. The BW, uterus weight (UW), uterus index (UI), calorie intake per day (CI), perirenal fat weight (PFW) and perirenal fat index (PFI) were measured. The serum levels of leptin, ghrelin, IGF- Ⅰ were tested by means of ELISA.Results Experiment 1:The VP was retarded in group R compared with group C (P<0. 01). There was a significant difference in BW, UW,UI ,CI,leptin and ghrelin at the VP day between group R and group C (all P<0.01) ,and no significant difference in IGF- Ⅰ levels between these two groups. Experiment 2 :The VP was retarded in group F,group G and group P in comparison with group C (P<0.01). The BW, PFW and PFI in group G and group F were markedly higher than those in group P and group C. The leptin level in group F was the highest, and the lowest in group P. The ghrelin level in group G was the highest,and that in group P was the lowest. However,there were no significant differences in IGF- Ⅰ and UI among these, four groups. Conclusion The normal pubertal onset of female rats requires sufficient caloric stores and balanced nutrient. Diets malnutrition and fat-rich, glucoserich and protein-rich test diets all delay pubertal onset in female rats.

Objective To investigate the effect of short stature homeobox (SHOX) gene promoter-372G →A mutation on the promoter activity and its mechanism.Methods The luciferase report gene vectors containing human SHOX gene promoter-372G or -372A were contructed.Their transcription activities were detected in chicken chondrocytes.Double-stranded DNA probes containing-372G or-372A were produced by PCR,and used for detecting the affinity with nuclear transcription factors by electrophoretic mobility shift assay(EMSA).Results The transcription activity in a-372A promoter construct was significantly higher than that in the wild type-372G (P<0.01).The result of EMSA showed that-372A gene mutation resulted in loss of the binding affinity to nuclear transcription factors.Conclusion The-372A mutation increases SHOX promoter activity with decreased DNA binding affinity to transcription factors,which may contribute to impaired long bone growth in patients with idio pathic short stature.

Objective To explore the causes of ambiguous genitalia.Methods Clinical data of 106 cases with ambiguous genitalia from Ruijin Hospital of Shanghai Jiaotong University School of Medicine were retrospectively analyzed.DNA fragments of related genes from parts of patients were amplified by means of polymerase chain reaction (PCR) and were directly sequenced to detect gene mutations.Results (1)The 106 ambiguous genitalia patients presented a variety of clinical phenotypes.Karyotype of 42 cases(39.6％)were 46,XX,while 62 cases(58.5％)were 46,XY and 2 cases(1.9％)were abnormal.(2)Forty(95.2％)patients with 46,XX were diagnosed with congenital adrenal hyperplasia(CAH) ;one case(2.4％) was adrenal cortical tumor and one case (2.4％) was 46,XX [sex determining region of Y choromosome (SRY) positive] male syndrome.(3) Fifty-three cases (85.5 ％) out of 46,XY karyotype were directly sequenced with steroid-5-alpha-reductase,alpha polypeptide 2 gene (SRD5A2),androgen receptor gene (AR) and steroidogenic factor-1 gene(SF-1).Sequencing analysis of SRD5A2 revealed 8 patients with compound heterozygous or homozygous mutations.A patient carried a novel missense mutation of SF-1 and another patient had a mutation of AR.(4) One abnormal karyotype was 46,XX/46,XY and the other was 46,XX/46,XY/46,X.+ may.ish (DYZ3 +) (DXZ1-).Conclusions (1) CAH is the most common cause of genital ambiguity in 46,XX patients but some rare causes such as adrenal cortical tumors or SRY positive should not be ignored.(2) To find the causes of 46,XY genital ambiguity,direct DNA sequencing analysis of candidate genes would be the better choice because of the complicate pathogenesis.(3)Abnormal karyotype also can lead to ambiguous genitalia.

Objective To analyze the clinical characteristics of two patients with 3β-hydroxysteroid dehydrogenase deficiency and to explore their molecular genetic defects.Methods The clinical features and laboratory data of two patients were collected.The exons of HSD3B2 gene were amplified by PCR and sequenced by Sanger sequencing.Results Patient 1, aged 5 yrs old, was raised as a girl with 46, XY karyotype, presented with hyperpigmentation, female infant vulva, clitoral hypertrophy, and bilateral cryptorchidism;Patient 2, aged 11 yrs old, was raised as a girl at birth but as a boy after 1 yr old for known 46, XY karyotype, presented with hyperpigmentation, micropenis and severe hypospadias.Both patients had markedly elevated adrenocorticotropin and decreased cortisol.Two homozygous missense mutations in HSD3B2 gene were identified:conversions of codon Pro155 toLeu(p.P155L)inpatient1,andcodonAla82toThr(p.A82T)inpatient2,bothofwhichwerereportedforthe first time in China.Conclusion The patients with 3β-hydroxysteroid dehydrogenase deficiency in 46,XY karyotype mainly present with male pseudohermaphroditism and adrenocortical deficiency, and the diagnosis should rely on the steroids detection and HSD3B2 gene screening.

Objective To explore the value of amino-terminal propeptide of C-type natriuretic peptide (NTproCNP) in evaluating the efficacy of therapy with recombinant human growth hormone ( rhGH ) in patients with idiopathic short stature (ISS) and isolated growth hormone deficiency ( IGHD ).Methods Forty-eight prepubertal children( IGHD n=25,ISS n=23 ) treated for at least 1 year with rhGH were included.Serum insulin-like growth factor- Ⅰ ( IGF- Ⅰ ) and NTproCNP levels were measured before starting treatment and 6 months later.Twelve months after starting treatment,all patients were assessed and annual growth velocity ( GV ),height standard deviation score ( HTSDS),and gained HTSDS (△HTSDS) were recorded.Results In GHD group,positive relationships between GV and change of IGF- ISDS( △IGF- ISDS ),GV and change of NTproCNP concentrations(△NTproCNP) were found( r=0.407,P=0.044 ;r=0.490,P=0.013 ).GH peak value was also positively associated with IGF- ISDS and NTproCNP before therapy ( r =0.558,P =0.004; r =0.630,P =0.001 ).△IGF- ISDS and △NTproCNP were positively associated after therapy ( r =0.466,P =0.019 ).In ISS group,GV was associated with △NTproCNP ( r=0.845,P＜ 0.01 ).Conclusions NTproCNP is a novel biomarker of growth as its level increases during growth-promoting treatment.Furthermore,IGF- Ⅰ is also valuable in evaluating the efficacy of rhGH therapy in short stature patients.