Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.31
J. Bae, B. Kwak, Sochung Chung
Purpose : The aim of this study was to evaluate growth status using the insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) concentrations in children with subclinical hypothyroidism (SCH). Methods : The study included 93 SCH patients (33 males and 60 females, age 8.1±1.9 years) and 94 healthy control subjects (31 males and 63 females, age 8.0±0.7 years). Patients’ height and weight were measured, and their body mass index (BMI) and Z-scores were calculated. The relationship between growth parameters, including IGF-I and IGFBP-3 concentrations and thyroid functions (thyroid-stimulating hormone (TSH) and free thyroxine 4 (fT4) was explored. Results : Although weight and BMI were greater in SCH patients, the Z-score of height, weight and BMI, and serum IGF-I and IGFBP-3 levels in SCH children were not significantly different compared to the control. In SCH patients, TSH showed a negative correlation with weight Z-scores (r =-0.23, P =0.028) and BMI Z-scores (r =-0.21, P =0.048). FT4 showed a positive correlation with IGFBP-3. Conclusion : The positive correlation of fT4 and IGFBP-3 and the negative relationship between TSH and weight and BMI Z-scores in SCH children suggest that subnormal thyroid functions could be related to growth impairment. (J Korean Soc Pediatr Endocrinol 2011;16:31-37)
目的:本研究的目的是利用胰岛素样生长因子- i (IGF-I)和igf结合蛋白-3 (IGFBP-3)浓度评估亚临床甲状腺功能减退症(SCH)患儿的生长状况。方法:纳入93例SCH患者(男33例，女60例，年龄8.1±1.9岁)和94例健康对照(男31例，女63例，年龄8.0±0.7岁)。测量患者身高、体重，计算体重指数(BMI)和z分数。探讨生长参数(包括IGF-I和IGFBP-3浓度)与甲状腺功能(促甲状腺激素(TSH)和游离甲状腺素4 (fT4))的关系。结果:SCH患儿体重、BMI均高于对照组，但SCH患儿身高、体重、BMI Z-score及血清IGF-I、IGFBP-3水平与对照组比较差异无统计学意义。SCH患者TSH与体重z -评分呈负相关(r =-0.23, P =0.028)， BMI z -评分呈负相关(r =-0.21, P =0.048)。FT4与IGFBP-3呈正相关。结论:SCH患儿fT4与IGFBP-3呈正相关，TSH与体重、BMI z -score呈负相关，提示甲状腺功能亚正常可能与生长障碍有关。(韩国社会儿科内分泌杂志2011;16:31-37)
{"title":"Evaluation of Growth Status Using Serum IGF-I and IGFBP-3 in Children with Subclinical Hypothyroidism","authors":"J. Bae, B. Kwak, Sochung Chung","doi":"10.6065/JKSPE.2011.16.1.31","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.31","url":null,"abstract":"Purpose : The aim of this study was to evaluate growth status using the insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) concentrations in children with subclinical hypothyroidism (SCH). Methods : The study included 93 SCH patients (33 males and 60 females, age 8.1±1.9 years) and 94 healthy control subjects (31 males and 63 females, age 8.0±0.7 years). Patients’ height and weight were measured, and their body mass index (BMI) and Z-scores were calculated. The relationship between growth parameters, including IGF-I and IGFBP-3 concentrations and thyroid functions (thyroid-stimulating hormone (TSH) and free thyroxine 4 (fT4) was explored. Results : Although weight and BMI were greater in SCH patients, the Z-score of height, weight and BMI, and serum IGF-I and IGFBP-3 levels in SCH children were not significantly different compared to the control. In SCH patients, TSH showed a negative correlation with weight Z-scores (r =-0.23, P =0.028) and BMI Z-scores (r =-0.21, P =0.048). FT4 showed a positive correlation with IGFBP-3. Conclusion : The positive correlation of fT4 and IGFBP-3 and the negative relationship between TSH and weight and BMI Z-scores in SCH children suggest that subnormal thyroid functions could be related to growth impairment. (J Korean Soc Pediatr Endocrinol 2011;16:31-37)","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116671754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.13
I. Yoon, C. Shin, S. Yang
Results: Patients showed significantly higher levels of IL-1β (P ˂ 0.01), IL-10 (P ˂ 0.01), and TNF-α (P =0 .019), than the healthy controls. In 12 of 35 patients, the insulin autoantibody (IAA) was positive (34%) and the level of IAA was correlated with IL-10 (r = 0.454, P = 0.006), and TNF-α (r = 0.368, P = 0.030). Conclusion: These results suggest that IL-1β, TNF-α, and IL-10 play a role in the pathogenesis of T1DM, and the level of the IAA is correlated with IL-10 and TNF-α. (J Korean Soc Pediatr Endocrinol 2011;16:13-19)
结果:患者IL-1β (P小于0.01)、IL-10 (P小于0.01)、TNF-α (P = 0.019)水平明显高于健康对照组。35例患者中12例胰岛素自身抗体(IAA)阳性(34%)，IAA水平与IL-10 (r = 0.454, P = 0.006)、TNF-α (r = 0.368, P = 0.030)相关。结论:提示IL-1β、TNF-α、IL-10参与了T1DM的发病机制，IAA水平与IL-10、TNF-α水平相关。(韩国社会儿科内分泌杂志2011;16:13-19)
{"title":"Analysis of Cytokines in Sera from Type 1 Diabetic Patients at Diagnosis","authors":"I. Yoon, C. Shin, S. Yang","doi":"10.6065/JKSPE.2011.16.1.13","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.13","url":null,"abstract":"Results: Patients showed significantly higher levels of IL-1β (P ˂ 0.01), IL-10 (P ˂ 0.01), and TNF-α (P =0 .019), than the healthy controls. In 12 of 35 patients, the insulin autoantibody (IAA) was positive (34%) and the level of IAA was correlated with IL-10 (r = 0.454, P = 0.006), and TNF-α (r = 0.368, P = 0.030). Conclusion: These results suggest that IL-1β, TNF-α, and IL-10 play a role in the pathogenesis of T1DM, and the level of the IAA is correlated with IL-10 and TNF-α. (J Korean Soc Pediatr Endocrinol 2011;16:13-19)","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"85 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122715506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.61
S. H. Lee, Seong Woo Han, Gu-Hwan Kim, H. Yoo, W. Chung
Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. Although the vast majority of KS cases are sporadic, some X-linked recessive (KAL1), autosomal dominant (FGFR1), and autosomal recessive (most commonly GNRHR) modes of inheritance have been described. Two boys were referred to our department because of cryptorchidism and the absence of puberty. Upon laboratory evaluation they were diagnosed with hypogonadotropic hypogonadism. Agenesis of the olfactory bulbs was detected in radiologic tests, and total deletion of the KAL1 gene was detected through multiplex ligation-dependent probe amplification (MLPA). Although cryptorchidism was diagnosed in the siblings, only the older brother suffered from sensorineural hearing loss and right renal agenesis, a feature that had been reported in X-linked KS. We describe herein the clinical heterogeneity of two affected brothers who carry a complete deletion in KAL1; this is the first case of familial Kallmann syndrome due to the complete deletion of the KAL1 gene reported in Korea. (J Korean Soc Pediatr Endocrinol 2011;16:61-65)
{"title":"A Familial Case of Kallmann Syndrome due to KAL1 Gene Complete Deletion","authors":"S. H. Lee, Seong Woo Han, Gu-Hwan Kim, H. Yoo, W. Chung","doi":"10.6065/JKSPE.2011.16.1.61","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.61","url":null,"abstract":"Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. Although the vast majority of KS cases are sporadic, some X-linked recessive (KAL1), autosomal dominant (FGFR1), and autosomal recessive (most commonly GNRHR) modes of inheritance have been described. Two boys were referred to our department because of cryptorchidism and the absence of puberty. Upon laboratory evaluation they were diagnosed with hypogonadotropic hypogonadism. Agenesis of the olfactory bulbs was detected in radiologic tests, and total deletion of the KAL1 gene was detected through multiplex ligation-dependent probe amplification (MLPA). Although cryptorchidism was diagnosed in the siblings, only the older brother suffered from sensorineural hearing loss and right renal agenesis, a feature that had been reported in X-linked KS. We describe herein the clinical heterogeneity of two affected brothers who carry a complete deletion in KAL1; this is the first case of familial Kallmann syndrome due to the complete deletion of the KAL1 gene reported in Korea. (J Korean Soc Pediatr Endocrinol 2011;16:61-65)","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"449 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116433178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.1
Jin-Ho Choi, H. Yoo
factor (IGF)-I is a reliable diagnostic indicator of GHD in the presence of hypopitui-tarism, however, a normal IGF-I does not rule out GHD. When the diagnosis of adult GHD is established, continuation of GH therapy is strongly recommended. Continued GH treatment from adolescence into early adulthood may contribute to the attainment of a normal bone and muscle mass and contribute to a decrease of the cardiovascular risk of GHD adults. There is ongoing debate about nearly every aspect of GH therapy. (J Korean Soc Pediatr Endocrinol 2011;16:1-6)
{"title":"Reassessment of GH Status and GH Therapy in Adults with Childhood-onset GHD: Transitional Care from Adolescence to Adulthood","authors":"Jin-Ho Choi, H. Yoo","doi":"10.6065/JKSPE.2011.16.1.1","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.1","url":null,"abstract":"factor (IGF)-I is a reliable diagnostic indicator of GHD in the presence of hypopitui-tarism, however, a normal IGF-I does not rule out GHD. When the diagnosis of adult GHD is established, continuation of GH therapy is strongly recommended. Continued GH treatment from adolescence into early adulthood may contribute to the attainment of a normal bone and muscle mass and contribute to a decrease of the cardiovascular risk of GHD adults. There is ongoing debate about nearly every aspect of GH therapy. (J Korean Soc Pediatr Endocrinol 2011;16:1-6)","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"5 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114470101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.7
Ji-Eun Lee
As a result of recent advances in life science and technology, various therapeutic drugs have been developed and active research in the fields of medicine for the development of novel drugs are under progress. Among these researches, the Drug Delivery System (DDS) is an advanced technology that effectively delivers therapeutic drugs to desired targets and thereby reduces adverse effects and increases efficacy. The application of this technology in the industry is technology-intensive and high value-added and therefore suitable for Korea's condition which is poor of material resources while abundant of human resources. Therefore there are many efforts in developing DDS as a major fundamental industry in Korea. Therefore this technology has emerged as a new technology that has a substantial impact in the development and growth of biotechnology related industries in Korea. In this review, we introduce the basic concepts and principles of DDS, so that pediatric endocrinologists may obtain a more comprehensive understanding and may benefit in treating patients with this advanced technology. (J Korean Soc Pediatr Endocrinol 2011;16:7-12)
{"title":"Drug Delivery Systems - associated with Pediatric Endocrinology","authors":"Ji-Eun Lee","doi":"10.6065/JKSPE.2011.16.1.7","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.7","url":null,"abstract":"As a result of recent advances in life science and technology, various therapeutic drugs have been developed and active research in the fields of medicine for the development of novel drugs are under progress. Among these researches, the Drug Delivery System (DDS) is an advanced technology that effectively delivers therapeutic drugs to desired targets and thereby reduces adverse effects and increases efficacy. The application of this technology in the industry is technology-intensive and high value-added and therefore suitable for Korea's condition which is poor of material resources while abundant of human resources. Therefore there are many efforts in developing DDS as a major fundamental industry in Korea. Therefore this technology has emerged as a new technology that has a substantial impact in the development and growth of biotechnology related industries in Korea. In this review, we introduce the basic concepts and principles of DDS, so that pediatric endocrinologists may obtain a more comprehensive understanding and may benefit in treating patients with this advanced technology. (J Korean Soc Pediatr Endocrinol 2011;16:7-12)","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130103191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.51
Jiyun Park, I. Seong, Jeesuk Yu
Hypercalcemia is not common, and occurs more frequently in children than in adults. Left untreated, hypercalcemia could result in a profound impact on growth and development. We report a case of recurrent idiopathic infantile hypercalcemia with poor weight gain, constipation, and a renal stone. We successfully treated the infantile hypercalcemia with a low-calcium diet and intravenous pamidronate. (J Korean Soc Pediatr Endocrinol 2011;16:51-55)
{"title":"A Case of Idiopathic Infantile Hypercalcemia Treated with Intravenous Pamidronate Infusion","authors":"Jiyun Park, I. Seong, Jeesuk Yu","doi":"10.6065/JKSPE.2011.16.1.51","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.51","url":null,"abstract":"Hypercalcemia is not common, and occurs more frequently in children than in adults. Left untreated, hypercalcemia could result in a profound impact on growth and development. We report a case of recurrent idiopathic infantile hypercalcemia with poor weight gain, constipation, and a renal stone. We successfully treated the infantile hypercalcemia with a low-calcium diet and intravenous pamidronate. (J Korean Soc Pediatr Endocrinol 2011;16:51-55)","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127978025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.56
Ben Kang, Hyeoun U Sung, Bok Ki Kim, Sin Young Park, S. Kim, Y. Kwon, M. Lim, Ji-Eun Lee
We report a case of Turner syndrome associated with idiopathic central diabetes insipidus in a 12-year-old girl, who presented with polyuria and polydipsia after a year. The patient was very short and and centrally obese, and was initially diagnosed with Turner syndrome, hyperlipidema, and diabetes mellitus. A water deprivation test revealed central diabetes insipidus, and sellar magnetic resonance imaging (MRI) showed a thickening of the pituitary stalk, with normal high signal intensity in the posterior pituitary gland. Replacement therapy with desmopressin was initiated, and follow-up sellar MRI findings after two years showed spontaneous regression of the thickened pituitary stalk. There are only few reports of concomitant Turner syndrome with central diabetes insipidus worldwide. Further observation is needed in order to disclose the cause of central diabetes insipidus in patients having Turner syndrome. (J Korean Soc Pediatr Endocrinol 2011;16:56-60)
{"title":"A Case of Turner Syndrome Associated with Idiopathic Central Diabetes Insipidus","authors":"Ben Kang, Hyeoun U Sung, Bok Ki Kim, Sin Young Park, S. Kim, Y. Kwon, M. Lim, Ji-Eun Lee","doi":"10.6065/JKSPE.2011.16.1.56","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.56","url":null,"abstract":"We report a case of Turner syndrome associated with idiopathic central diabetes insipidus in a 12-year-old girl, who presented with polyuria and polydipsia after a year. The patient was very short and and centrally obese, and was initially diagnosed with Turner syndrome, hyperlipidema, and diabetes mellitus. A water deprivation test revealed central diabetes insipidus, and sellar magnetic resonance imaging (MRI) showed a thickening of the pituitary stalk, with normal high signal intensity in the posterior pituitary gland. Replacement therapy with desmopressin was initiated, and follow-up sellar MRI findings after two years showed spontaneous regression of the thickened pituitary stalk. There are only few reports of concomitant Turner syndrome with central diabetes insipidus worldwide. Further observation is needed in order to disclose the cause of central diabetes insipidus in patients having Turner syndrome. (J Korean Soc Pediatr Endocrinol 2011;16:56-60)","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"54 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129944974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.20
K. Yi
Purpose : The purpose of this test was to investigate the changes of serum IGF-1 and IGFBP-3 levels during a one-year gonadotropin releasing hormone agonist (GnRHa) treatment in central precocious puberty (CPP) girls. Methods : From 2007 to 2009, 26 girls were enrolled in this study. They were diagnosed as having central precocious puberty and were treated with GnRHa (leuprolide actete) for one year. Their height, bone age, and serum IGF-1 and IGFBP-3 levels were evaluated every six months. Results : At the time of diagnosis, their mean serum IGF-1 and IGFBP-3 levels were 302.90±102.54 ng/mL and 3,103.58±705.08 ng/mL, respectively. At six month after treatment, the serum IGF-1 and IGFBP-3 levels were slightly decreased. One year later, IGF-1 concentrations were higher than before treatment and IGFBP-3 levels were lower (P =NS). This result, however, was not statistically significant. Conclusion : Gonadal suppression with gonadotropin releasing hormones inversely influenced circulating IGF-1 and IGFBP-3 levels. However, the serum IGF-1 and IGFBP-3 levels were maintained at relatively steady levels, preserving a normal height velocity. (J Korean Soc Pediatr Endocrinol 2011;16:20-23)
{"title":"Serum IGF-1 and IGFBP-3 Levels in Central Precocious Puberty Girls Treated with Gonadotropin Releasing Hormone Agonist (GnRHa)","authors":"K. Yi","doi":"10.6065/JKSPE.2011.16.1.20","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.20","url":null,"abstract":"Purpose : The purpose of this test was to investigate the changes of serum IGF-1 and IGFBP-3 levels during a one-year gonadotropin releasing hormone agonist (GnRHa) treatment in central precocious puberty (CPP) girls. Methods : From 2007 to 2009, 26 girls were enrolled in this study. They were diagnosed as having central precocious puberty and were treated with GnRHa (leuprolide actete) for one year. Their height, bone age, and serum IGF-1 and IGFBP-3 levels were evaluated every six months. Results : At the time of diagnosis, their mean serum IGF-1 and IGFBP-3 levels were 302.90±102.54 ng/mL and 3,103.58±705.08 ng/mL, respectively. At six month after treatment, the serum IGF-1 and IGFBP-3 levels were slightly decreased. One year later, IGF-1 concentrations were higher than before treatment and IGFBP-3 levels were lower (P =NS). This result, however, was not statistically significant. Conclusion : Gonadal suppression with gonadotropin releasing hormones inversely influenced circulating IGF-1 and IGFBP-3 levels. However, the serum IGF-1 and IGFBP-3 levels were maintained at relatively steady levels, preserving a normal height velocity. (J Korean Soc Pediatr Endocrinol 2011;16:20-23)","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"276 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124034400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.38
J. Ko, Hae-sang Lee, Hyo Sung Lee, J. Hwang
Purpose: Central precocious puberty (CPP) is defined as any sign of secondary sexual maturation appears at an age lower than two standard deviations of the mean for the average age. This process is driven by activation of hypothalamic gonadotropin releasing hormone (GnRH) secretion. Many genes expressed in the hypothalamus have been identified to play an important role in the onset and the progression of puberty. In this study, the GNRH1, its receptor (GNRHR), and kisspeptin receptor (GPR54) genes were scanned to investigate sequence alterations and their distribution in Korean girls with CPP. Methods: One hundred and one Korean girls with CPP were recruited as the case group and 51 normal Korean women as the control group. The DNAs were extracted and amplified by polymerase chain reaction (PCR), and the products were sequenced directly. Statistical analyses were performed, and P values of ˂ 0.05 were considered significant. Results: Four polymorphisms were identified; however, no pathological mutation was found. Two of the polymorphisms were previously reported, c.47G ˃ C in GNRH1, and c.1091T ˃ A in GPR54. However, the other two (c.196C ˃ T in GNRH1 and c.546T ˃ C in GNRHR) were novel. There was no polymorphism that was significantly associated with early onset or rapid progression of puberty. Conclusion: Although the size of our study population was relatively small, simple genetic variations in GNRH1, GNRHR, and GPR54 genes are not likely to be a substantial factor directly associated with the onset and progression of puberty. (J Korean Soc Pediatr Endocrinol 2011;16:38-45)
{"title":"Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty","authors":"J. Ko, Hae-sang Lee, Hyo Sung Lee, J. Hwang","doi":"10.6065/JKSPE.2011.16.1.38","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.38","url":null,"abstract":"Purpose: Central precocious puberty (CPP) is defined as any sign of secondary sexual maturation appears at an age lower than two standard deviations of the mean for the average age. This process is driven by activation of hypothalamic gonadotropin releasing hormone (GnRH) secretion. Many genes expressed in the hypothalamus have been identified to play an important role in the onset and the progression of puberty. In this study, the GNRH1, its receptor (GNRHR), and kisspeptin receptor (GPR54) genes were scanned to investigate sequence alterations and their distribution in Korean girls with CPP. Methods: One hundred and one Korean girls with CPP were recruited as the case group and 51 normal Korean women as the control group. The DNAs were extracted and amplified by polymerase chain reaction (PCR), and the products were sequenced directly. Statistical analyses were performed, and P values of ˂ 0.05 were considered significant. Results: Four polymorphisms were identified; however, no pathological mutation was found. Two of the polymorphisms were previously reported, c.47G ˃ C in GNRH1, and c.1091T ˃ A in GPR54. However, the other two (c.196C ˃ T in GNRH1 and c.546T ˃ C in GNRHR) were novel. There was no polymorphism that was significantly associated with early onset or rapid progression of puberty. Conclusion: Although the size of our study population was relatively small, simple genetic variations in GNRH1, GNRHR, and GPR54 genes are not likely to be a substantial factor directly associated with the onset and progression of puberty. (J Korean Soc Pediatr Endocrinol 2011;16:38-45)","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"254 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115859149","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2011-04-01DOI: 10.6065/JKSPE.2011.16.1.24
H. Kim
{"title":"The Effect of IGFBP-3 on Adipokines and Gene Expression in Differentiated 3T3-L1 Adipocytes","authors":"H. Kim","doi":"10.6065/JKSPE.2011.16.1.24","DOIUrl":"https://doi.org/10.6065/JKSPE.2011.16.1.24","url":null,"abstract":"","PeriodicalId":346664,"journal":{"name":"Journal of Korean Society of Pediatric Endocrinology","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2011-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130801677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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