Changes in T helper lymphocytes and their subsets in children with tic disorders / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To explore the changes in T helper lymphocytes and their subsets in children with tic disorders (TD) and their clinical significance.</p><p><b>METHODS</b>Flow cytometry was used to measure the percentages of T helper lymphocytes and their subsets in the peripheral blood of children with TD and healthy children (controls).</p><p><b>RESULTS</b>The percentage of T helper lymphocytes was significantly lower in the TD group than in the control group (P<0.001). The abnormal rate of T helper lymphocytes in the TD group was significantly higher than that in the control group (68.7% vs 18.8%; P<0.001). The percentage of T helper lymphocytes was negatively correlated with Yale Global Tic Severity Scale score (r=-0.3945, P<0.001). As for the subsets of T helper lymphocytes, the TD group had a significantly higher percentage of Th1 cells and a significantly lower percentage of Th2 cells compared with the control group (P<0.001).</p><p><b>CONCLUSIONS</b>The abnormality of T helper lymphocytes and the imbalance of their subsets may be associated with the pathogenesis of TD in children. The percentage of T helper lymphocytes can be used as an indicator for assessing the severity of TD.</p>

Analysis of a family affected with familial male-limited precocious puberty due to a Ala568Val mutation in LHCGR gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Familial male-limited precocious puberty (FMPP) is due to constitutive activation of a mutant luteinizing hormone/choriogonadotropin receptor (LH/CGR) leading to elevated testosterone synthesis in testicular Leydig cells. In the present study, we have analyzed the LHCGR gene for members of a Chinese FMPP family.</p><p><b>METHODS</b>Physical examinations have included assessment of penile length, testicular volume and pubic hair. Bone age assessment, levels of testosterone and gonadotropin-releasing hormone (GnRH) stimulations tests were measured. DNA was extracted from blood samples of the proband and his parents using an QIAGEN Blood DNA Mini Kit. The 11 exons of LHCGR gene were amplified using an AmpliTaq PCR system, and the PCR products were sequenced using an ABI3130xl Genetic Analyzer.</p><p><b>RESULTS</b>The affected boy was 3 year and 1 month old and showed typical clinical manifestation of peripheral precocious puberty. His height was 116.8cm (+5.1s) and Tanner stages were PH 2. Testicular volume was 8 mL bilaterally, penile was 8.5 cm × 2.5 cm. Basal testosterone was 2310 ng/L and bone age was 9 years. GnRH stimulation test revealed a prepubertal response to gonadotropin. The peak of LH was 2.66 IU/L, and the peak of FSH was 1.03 IU/L. Upon sequencing exon 11 of the LHCGR, a heterozygous point mutation of nucleotide 1703 from C to T was detected, which resulted in an amino acid transition from Ala (GCC) to Val (GTC) at position 568. Thus the mutation of LHCGR gene was confirmed to be constitutively active. After treating with aromatase inhibitors for half a year, the patient showed an increase in bone age and height by half a year and 4 cm, respectively. The same point mutation was detected in the patient's father, but did not have any influence on his puberty development.</p><p><b>CONCLUSION</b>A novel point mutation of the LHCGR gene has been identified in a family affected with FMPP. The c.1703C>T mutant LHCGR was confirmed to be constitutively active, which has led to maturation and proliferation of Leydig cells. The variable phenotype within the family suggested variable expressivity of the disease.</p>

Etiology and prognosis of peripheral precocious puberty in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the causes and prognosis of peripheral precocious puberty.</p><p><b>METHODS</b>The levels of follicle stimulating hormone (FSH), luteinizing hormone (LH) and estradiol (E2) were detected by a simplified gonadotrophin-releasing hormone (GnRH) stimulation test. The etiologies of 125 children with peripheral precocious puberty were explored by ultrasound scans and bone age assessment. A total of 102 cases were followed up for 3 months to 7.5 years.</p><p><b>RESULTS</b>The etiological distribution of these children was as follows: exogenous hormones intake (n=80), ovarian cyst (n=11), McCune-Albright syndrome (n=11), congenital adrenal hyperplasia (CAH) (n=5), ovarian teratoma (n=1), masculine adrenal tumor (n=1), feminine adrenal tumor (n=1), and handle pituitary tumor (n=1). The causes in 14 cases were unknown. Follow-up showed that the sexual characteristics of 72 cases due to exogenous hormones intake subsided after 1-6 months. Of 11 cases with ovarian cysts, the sexual characteristics subsided spontaneously in 8 cases after 1 to 4 months, but one case was transformed to central precocious puberty after 2 years and three months. One child with ovarian cysts underwent an operation and than the sexual characteristics subsided. The sexual characteristics of the patient who had an ovarian teratoma subsided after operation. The clinical symptoms of children with McCune-Albright syndrome or CAH were alliaviated partly after treatment, and 7 cases were transformed to central precocious puberty. The clinical symptoms of 2 cases of adrenal tumors subsided after operation. One child with handle pituitary tumor died one year after operation.</p><p><b>CONCLUSIONS</b>Varied causes may contribute to peripheral precocious puberty and therefore must be carefully identified through history taking, physical examination, and auxiliary examinations. The prognosis may differ for patients with different etiologies of peripheral precocious puberty.</p>

Cytogenetics and Polygenic Factor Analysis of 364 Female Children with Short Stature / 实用儿科临床杂志

Objective To explore the effect of chromosomal abnormality and polygenic inheritance factor in female children with short stature.Methods 1.Chromosome analysis:peripheral blood was drawn for 1 mL and cultured 72 h to analyze chromosome karyotype (Giemsa Banding ) of peripheral lymphocytes.2.Polygenic factor analysis:the children′s final height were estimated based on their parents average height,and analyzed the distribution characteristics of children′s final height and compared the estimate final height with the actual height.Results Eighty-three cases out of the 364 female children with short stature were chromosomal abnormality(22.80%).Among the 83 cases,the 45,XO and 46,X,i(Xq) occupied 70%.The distribution of children target height shifted left,and the target height of 76 cases was lower than 2 standard deviation (-2 s)and the consistency of target height and actual height reached 20.88%.The target height of 7 cases was lower than 2 standard deviation in those whose chromosome turned out to be abnormal,and the consistency of target height and actual height was 8.43%.Conclusions Chromosomal abnormality is one of the most important etiologic agents causing short stature in female children, and polygenic inheritance is another important etiologic agent.

Clinical Analysis of 38 Cases of Pseudoprecocious Puberty / 实用儿科临床杂志

Objective To study the causes, clinical feature,diagnoses and prognosis of pseudoprecocious puberty. Methods Thirty-eight cases with pseudoprecocious puberty were diagnosed by the serum LH and FSH of GnRHa stimulation test, pelvic ultrasonography and bone age assessment; they were treated and followed up. Results Peaks of LH were(0.49?0.48) IU/L, peaks of FSH were(0.54?0.78) IU/L, the level of E2 in 26 cases increased (36.11?15.70) ng/L,17-hydroxyprogesterone of 1 case was beyond 266 nmol/L. All cases showed hysterauxesis (3.98?1.18) mL. Cases of wrong contraceptive intake were 29,5 cases of McCune-Albright syndrome,2 cases of ovarian cyst, 1 case of ovarian granular cell tumor,1 case of congenital adrenal hyperplasia. Conclusions The causes of pseudoprecocious puberty are multifactors. Early diagnosis,therapy,follow-up are very important for prognosis.