Clinical effect of letrozole in treatment of idiopathic short stature in adolescent boys / 中国当代儿科杂志

OBJECTIVE@#To evaluate the therapeutic effect and safety of letrozole in the treatment of adolescent boys with idiopathic short stature (ISS).@*METHODS@#A retrospective analysis was performed for the clinical data of 16 adolescent boys with ISS who had a bone age of ≥14 years. Among these boys, 8 were initially treated with recombinant human growth hormone (rhGH), followed by rhGH combined with letrozole during a bone age of 14-15.5 years. The other 8 boys were initially treated with rhGH combined with letrozole since their bone age was ≥14 years at diagnosis. Of the 16 boys, 16 were treated for not less than 6 months, 12 were treated for not less than 1 year, and 5 were treated for not less than 1.5 years. The increase in bone age, predicted adult height (PAH), final adult height, sex hormones, and adverse reactions after treatment were analyzed.@*RESULTS@#After 6 months, 1 year, and 1.5 years of treatment, median bone age was increased by 0 year, 0.5 year, and 0.5 year respectively, which was significantly lower than the increase in age (P0.05).@*CONCLUSIONS@#In adolescent boys with ISS and a high bone age, rhGH combined with letrozole can safely and effectively delay the increase in bone age and improve PAH and final adult height, with little adverse effect.

17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child / 中国当代儿科杂志

A 14-year-old female (social gender) patient was admitted to the hospital due to severe hypertension for 11 days. The patient had primary amenorrhea. The blood pressure was 146/90 mm Hg. The skin color was slightly black. The development of secondary sexual characteristics was poor. The labia majora could be observed in the vulva. However, the labia minora, clitoris, vagina, and hymen were absent. The levels of renin, cortisol, and sex hormone were low, while the levels of adrenocorticotropic hormone and gonadotropin were high. The levels of blood potassium and aldosterone were both normal. Radiography indicated retardation of bone age. Ultrasound examination revealed that the ovary and uterus were both absent. The patient had bilateral adrenal hyperplasia and cryptorchid testes located in both inguinal canals. The patient had a 46,XY karyotype. Whole genome sequencing revealed two homozygous mutations, c.985T>C and c.987delC, in exon 6 of the CYP17A1 gene of the patient and heterozygous mutations in the same sites of the parents. The patient was diagnosed with congenital adrenal hyperplasia-17α-hydroxylase deficiency. After treatment with hydrocortisone for 2 months, blood pressure returned to normal and the level of adrenocorticotropic hormone was reduced. According to the request of the patient and the parents, hydrocortisone was replaced with estrogen to allow the patient to live as a female. The patient also received surgical excision of cryptorchid testes to prevent gonadal malignancy. It is concluded that in the differential diagnosis of pediatric hypertension, sexual development should be considered and the levels of adrenocorticotropic hormone and cortisol should be evaluated. The rare disease 17α-hydroxylase deficiency should be considered for patients with low-renin hypertension and gonadal dysgenesis.

A survey of pubertal development in children born with assisted reproductive technology / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the status of pubertal development in children born with assisted reproductive technology (ART).</p><p><b>METHODS</b>A retrospective analysis was performed on the pubertal development data of children born with ART in Peking University Third Hospital from 1994 to 2003 (ART group). The data in the cross-sectional study "Reports on the Physical Fitness and Health Research of Chinese School Students in 2010" were used as a control. The age at menarche and the age at spermarche were compared between the two groups. The status of pubertal development in the overweight and obese children in the ART group was evaluated to investigate the correlation between pubertal development and body mass index (BMI).</p><p><b>RESULTS</b>A total of 200 children born with ART were enrolled in this study, and 72 of them (41 males and 31 females) completed the survey (response rate=36.0%). In the ART group, the mean age at spermarche and the mean age at menarche were 13.9 years (95%CI: 13.7-14.3 years) and 12.2 years (95%CI: 11.8-12.6 years), respectively. There were no significant differences in the age at spermarche and the age at menarche between the ART and control groups (P>0.05). In the ART group, there were no significant differences in the age at spermarche and the age at menarche between the overweight and obese children and the normal weight children (P>0.05). There were also no significant differences in overweight rate and obesity rate between the children in the ART group and the adolescents in Beijing (P>0.05). In the ART group, there was no significant correlation between the age at spermarche or menarche and BMI (P>0.05).</p><p><b>CONCLUSIONS</b>No delayed or precocious puberty is observed in children born with ART. This is consistent with the normal control data. And there is no significant correlation between pubertal development and BMI in children born with ART.</p>

Characteristics of R bone age, C bone age, and T bone age in children with different causes of short stature based on Tanner and Whitehouse skeletal age assessment system 2 / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the characteristics of R bone age, C bone age, and T bone age in children with different causes of short stature based on the Tanner and Whitehouse skeletal age assessment system 2 (TW2), and to provide a reference for the etiological diagnosis of short stature.</p><p><b>METHODS</b>Three hundred and sixty-three children with previously untreated short stature were classified into four groups according to the causes: growth hormone deficiency (GHD; 27 cases), idiopathic short stature (ISS; 280 cases), small for gestational age (SGA; 41 cases), and Turner syndrome (TS; 15 cases). The X-ray films of their left hand-wrist bones were taken to determine the bone age. R bone age, C bone age, and T bone age were assessed by the TW2 method and compared with their chronological age (CA).</p><p><b>RESULTS</b>R bone age, C bone age, and T bone age were over 2 years less than CA in both boys and girls from the GHD group. In the ISS group, R bone age, C bone age, and T bone age were about 1 year less than CA in boys, while there were no significant differences between the bone ages and CA in girls. In the SGA group, there were no significant differences between the bone ages and CA in either boys or girls. In the TS group, R bone age and T bone age were significantly lower than CA, while there was no significant difference between C bone age and CA.</p><p><b>CONCLUSIONS</b>The children with different causes of short stature have different characteristics of R bone age, C bone age, and T bone age assessed by the TW2 method. The assessment of R bone age, C bone age, and T bone age by the TW2 method is helpful for the etiological diagnosis of short stature in children.</p>

Clinical study of sequential therapy by synchronized nasal intermittent positive pressure ventilation for preterm infants with respiratory distress syndrome after extubation / 中华实用儿科临床杂志

Objective To assess the efficiency of synchronized nasal intermittent positive pressure ventilation (SNIPPV) as a transitional mode in treatment of neonatal respiratory distress syndrome (RDS) after extubation.Methods In this single-center and randomized controlled trial,preterm infants (gestational age less than 35 weeks)with RDS who received mechanical ventilation were randomly assigned to receive SNIPPV(33 cases) or NCPAP(34 cases) after extubation.Blood gas analysis,prevalence of extubation failure and complications were compared between the 2 groups.Results The Pa (O2) in SNIPPV group was significantly higher but the pa (CO2) was significantly lower than those in the NCPAP group at 3 h and 12 h after extubation respectively(all P ＜ 0.05).Infants treated with SNIPPV had a decreased incidence of hypoxemia,hyperbicarbonatemia and extubation failure compared with those of patients treated with NCPAP (all P ＜ 0.05).SNIPPV group had a decreased incidence of apnea (P =0.000),shorter duration of mechanical ventilation and oxygen treatment duration than those of NCPAP group (all P ＜ 0.05).Conclusions SNIPPV is superior to NCPAP in serving as a transitional mode after extubation for preterm infants with RDS,and should be used in preference after extubation.

Clinical features of respiratory diseases in late preterm neonates / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To evaluate the clinical features of respiratory diseases of late preterm neonates.</p><p><b>METHODS</b>Six hundred and thirty late preterm infant(gestational age: 34~36+6weeks),4401 cases of term infants and 328 early preterm infants who were born at the obstetrical department of Peking University 3rd Hospital from January 2009 to December 2010 were enrolled. Among them 84 late preterm infants, 135 term infants and 182 early preterm infants developed respiratory diseases. The incidence of respiratory diseases,clinical features and the severity of the diseases were compared among the three groups.</p><p><b>RESULTS</b>The incidence and mortality rates of respiratory diseases and the percentage of severe cases were significantly higher in the late preterm group than in the term group, but lower than in the early preterm group (P<0.01). The symptoms of respiratory disease occurred earlier in the late preterm group than in the term group, but later than in the early preterm group (P<0.01). The late preterm group had a significantly higher incidence of tachypnea and lower incidence of retraction sign when compared with the term and early preterm groups (P<0.05). The percentages requiring oxygen therapy and mechanical ventilation in the late preterm group were both significantly higher than in the term group, but lower than in the early preterm group (P<0.05). The multiple linear regression analysis showed 11 factors associated with the severity of respiratory diseases: decreased arterial partial pressure of oxygen, hematokrit, pH value and respiratory rate, arterial oxyhemoglobin saturation, systolic arterial pressure, 5 minute Apgar score and gestational age, and increased blood urea nitrogen, heart rate and respiratory rate.</p><p><b>CONCLUSIONS</b>Late preterm infants are more likely to develop respiratory diseases than term infants, and to develop a more severe condition and need a more intensive respiratory support treatment. Tachypnea is a common presentation of dyspnea in late preterm infants and occurs earlier than in term infants but later than in early preterm infants. It may usually indicate a serious condition when dyspnea, abnormal heart rate and blood pressure, and multisystem damages occur in late preterm infants.</p>

Cockayne syndrome / 中国当代儿科杂志

Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment.

Relationship between ACE gene insertion or deletion polymorphism and left ventricular mass in newborns admitted to the neonatal intensive care unit / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the relationship between angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and left ventricular mass (LVM) in newborns admitted to the neonatal intensive care unit (NICU).</p><p><b>METHODS</b>Seventy-two newborns admitted to the NICU were enrolled. ACE genotypes were determined by genomic DNA which was isolated from heel-prick blood. Disease status of the newborns was evaluated by the Neonatal Critical Score (draft) on postnatal day 1. LVM and LVM index (LVMI) were evaluated by echocardiography on postnatal days 1-3.</p><p><b>RESULTS</b>DD genotype was identified in 11 cases, ID genotype in 31 cases, and II genotype in 30 cases. There were no significant differences in clinical characteristics, critical score and body measurements in newborns with different genotypes. The DD genotype group showed significantly lower LVMI than the group with ID+II genotypes (29±4 g/m2 vs 35±8 g/m2; P<0.05).</p><p><b>CONCLUSIONS</b>ACE gene polymorphism is associated with the LVMI in newborns admitted to the NICU. The LVMI of DD genotype carriers is significantly lower than that of ID+II genotypes carriers, which suggests that D allele may be associated with the growth and development of left ventricular.</p>

A meta-analysis of nasal intermittent positive pressure ventilation in treatment of respiratory distress syndrome in premature infants / 中华儿科杂志

<p><b>OBJECTIVE</b>To assess the efficacy of nasal intermittent positive pressure ventilation (NIPPV) in treatment of respiratory distress syndrome (RDS) in premature infants.</p><p><b>METHODS</b>According to the requirements of Cochrane systematic review, a thorough literature search was performed among PubMed (1977-2008), Embase (1989-2008), OVID, Cochrane (2008), Chinese Digital Hospital Library (www.chkd.cnki.net) and Chinese Biomedical Literature Disk Database (CBMdisc). Quality assessments of clinical trials were carried out. Randomized controlled trials (RCTs) with NIPPV and RDS were enrolled, and Revman 4.2 software was used for meta-analysis. The trials were analyzed using relative risk (RR) for dichotomous data, weighted mean difference (WMD) were used for continuous data, both kind of data were expressed by 95% confidence intervals (95% CI). For homogenous data (P> or =0.10), fixed effects model was calculated, for heterogeneity data (P<0.10), random effects model was calculated.</p><p><b>RESULTS</b>Five RCTs involving 284 premature infants diagnosed as respiratory distress syndrome (RDS) were included. Three studies comparing NIPPV with nasal continuous positive airway pressure (NCPAP) in the postextubation period, the extubation failure rate was 8.34% vs 40.79% in NIPPV group and NCPAP group, the NIPPV group had significantly lower extubation failure rates [RR 0.21 (95% CI: 0.10-0.45; P<0.001)]. Two of the above-mentioned three studies analyzed bronchopulmonary dysplasia (BPD) rates, the incidence of BPD was 39.34% vs 54.39% in NIPPV group and NCPAP group, the NIPPV group had a trend towards lower BPD rates, but this did not reach statistical significance [RR 0.73 (95% CI: 0.49-1.07; P=0.11)]. NIPPV was used as primary mode in two studies, one compared with conventional ventilation (CV), which detected that the NIPPV group had significantly lower BPD rates (10% vs. 33.33%, P=0.04); the other compared with NCPAP, which also showed that NIPPV group had significantly lower BPD rates (2.33% vs. 17.07%, P=0.03).</p><p><b>CONCLUSION</b>The primary mode NIPPV was found to be feasible as a method of ventilation in preterm infants with RDS, and was associated with a decreased incidence of BPD. In the postextubation period, NIPPV is more effective in preventing failure of extubation than NCPAP.</p>

Influence of angiotensin converting enzyme gene insertion/deletion polymorphism and beta3-adrenergic receptor gene Trp64Arg polymorphism on fetal growth and neonatal insulin sensitivity / 中华儿科杂志

<p><b>OBJECTIVE</b>To understand the influence of angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and beta3-adrenergic receptor (beta3-AR) gene Trp64Arg polymorphism on fetal growth and neonatal insulin sensitivity.</p><p><b>METHODS</b>Totally 296 newborn infants were selected into our study and divided into 2 groups according to gestational age and birth weight: adequate-for-gestational-age (AGA) group (222 cases) and small-for-gestational-age (SGA) group (74 case). Serum glucose and insulin were examined in the morning of the 3rd day before milk. Insulin sensitivity was evaluated by homeostasis model assessment (HOMA) equation. beta3-AR gene Trp64Arg polymorphism and ACE gene I/D polymorphism (202 cases) were analysed using polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) technique. Gestational age, birth weight, birth weight percentage, serum glucose, insulin and HOMA-IR were compared among different genotype groups. Statistical analysis was performed with the SPSS 10.0 software.</p><p><b>RESULTS</b>No significant difference was found between the serum glucose level of SGA group (4.03 +/- 1.05 mmol/L) and AGA group (4.05 +/- 1.14 mmol/L), P = 0.008. The serum insulin level (converted into Ln) of SGA group (2.262 +/- 0.746) was significantly higher than that of AGA group (1.757 +/- 0.805), P < 0.001. The HOMA-IR (also converted into Ln) level of SGA group (0.217 +/- 0.367) was also significantly higher than that of AGA group (0.001 +/- 0.378), P < 0.001. In the SGA group beta3-AR gene Arg64 allele carriers had higher serum insulin and HOMA-IR level (both changed to Ln, 2.654 +/- 0.701, 0.371 +/- 0.338) compared with noncarriers (2.074 +/- 0.698, 0.143 +/- 0.360), P < 0.05. The ACE gene DD genotype carriers had higher serum insulin and HOMA-IR level (both were converted into Ln, 2.19 +/- 0.91, 0.51 +/- 1.01) compared with II (1.77 +/- 0.85, 0.02 +/- 0.93) and ID genotype group (1.77 +/- 0.83, 0.05 +/- 0.91), P < 0.05. The ACE gene DD carriers had lower birth weight percentage compared with II and ID genotype group, P < 0.05. When both genes' polymorphisms were taken into account, the newborns who had both DD genotype and Arg64 allele had obviously higher serum insulin level (Ln, 2.560 +/- 1.160) than the neonates who had only one of the polymorphisms mentioned above (1.970 +/- 0.821, 1.992 +/- 0.706) and the neonates who had neither of the two polymorphisms (1.683 +/- 0.832), P < 0.05. The newborns who had both DD genotype and Arg64 allele also had significantly higher HOMA-IR level (Ln, 1.042 +/- 1.315) than the neonates who had only one of the polymorphisms mentioned above (0.247 +/- 0.710, 0.230 +/- 0.890) and the neonates who had neither of the two polymorphisms (-0.053 +/- 0.924), P < 0.05.</p><p><b>CONCLUSION</b>Newborns SGA had impaired insulin sensitivity. beta3-AR gene Trp64Arg polymorphism and ACE gene I/D polymorphism are important factors that may connect IUGR with insulin resistance syndrome in adulthood.</p>