T. Ishii, M. Anzo, M. Adachi, K. Onigata, S. Kusuda, K. Nagasaki, S. Harada, R. Horikawa, M. Minagawa, K. Minamitani, H. Mizuno, Y. Yamakami, M. Fukushi, T. Tajima
Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of 21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in 1989, with a focus on patients with severe disease. The “Guidelines for Treatment of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Found in Neonatal Mass Screening (1999 revision)” published in 1999 were revised to include 21-OHD patients with very mild or no clinical symptoms. Accumulation of cases and experience has subsequently improved diagnosis and treatment of the disease. Based on these findings, the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology further revised the guidelines for diagnosis and treatment. Target disease/conditions: 21-hydroxylase deficiency. Users of the guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, referring pediatric practitioners, general physicians; and patients.
{"title":"Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)","authors":"T. Ishii, M. Anzo, M. Adachi, K. Onigata, S. Kusuda, K. Nagasaki, S. Harada, R. Horikawa, M. Minagawa, K. Minamitani, H. Mizuno, Y. Yamakami, M. Fukushi, T. Tajima","doi":"10.1297/cpe.24.77","DOIUrl":"https://doi.org/10.1297/cpe.24.77","url":null,"abstract":"Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of 21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in 1989, with a focus on patients with severe disease. The “Guidelines for Treatment of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Found in Neonatal Mass Screening (1999 revision)” published in 1999 were revised to include 21-OHD patients with very mild or no clinical symptoms. Accumulation of cases and experience has subsequently improved diagnosis and treatment of the disease. Based on these findings, the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology further revised the guidelines for diagnosis and treatment. Target disease/conditions: 21-hydroxylase deficiency. Users of the guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, referring pediatric practitioners, general physicians; and patients.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"77 - 105"},"PeriodicalIF":1.4,"publicationDate":"2015-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.24.77","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287868","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}
M. Goto, N. Miyagawa, Kaori Kikunaga, M. Miura, Y. Hasegawa
Combination treatment with intravenous immunoglobulin (IVIG) plus prednisolone is effective for prevention of cardiovascular complications in children with Kawasaki disease (KD). However, administration of prednisolone for approximately 20 d in this regimen causes adrenocortical suppression in a high proportion of treated children. To establish a simple method to screen for this suppression, we performed a prospective study on 72 children with KD treated with this regimen in our institution from February 2012 to March 2014. By performing ROC analysis of 21 initial patients treated between February and June 2012, a serum cortisol value at 09:00 h of 5 mcg/dL was established as a threshold for intact adrenocortical function, which is equivalent to a peak serum cortisol value of higher than 15 mcg/dL in the CRH stimulation test. Then, we applied this screening test to 51 subsequent patients treated between July 2012 and March 2014. Approximately 90% of the patients with morning serum cortisol values above 5 mcg/dL 2 to 6 mo after the cessation of initial prednisolone treatment had peak serum cortisol values exceeding 15 mcg/dL, suggesting the efficacy of this approach.
{"title":"Single serum cortisol values at 09:00 h can be indices of adrenocortical function in children with Kawasaki disease treated with intravenous immunoglobulin plus prednisolone","authors":"M. Goto, N. Miyagawa, Kaori Kikunaga, M. Miura, Y. Hasegawa","doi":"10.1297/cpe.24.69","DOIUrl":"https://doi.org/10.1297/cpe.24.69","url":null,"abstract":"Combination treatment with intravenous immunoglobulin (IVIG) plus prednisolone is effective for prevention of cardiovascular complications in children with Kawasaki disease (KD). However, administration of prednisolone for approximately 20 d in this regimen causes adrenocortical suppression in a high proportion of treated children. To establish a simple method to screen for this suppression, we performed a prospective study on 72 children with KD treated with this regimen in our institution from February 2012 to March 2014. By performing ROC analysis of 21 initial patients treated between February and June 2012, a serum cortisol value at 09:00 h of 5 mcg/dL was established as a threshold for intact adrenocortical function, which is equivalent to a peak serum cortisol value of higher than 15 mcg/dL in the CRH stimulation test. Then, we applied this screening test to 51 subsequent patients treated between July 2012 and March 2014. Approximately 90% of the patients with morning serum cortisol values above 5 mcg/dL 2 to 6 mo after the cessation of initial prednisolone treatment had peak serum cortisol values exceeding 15 mcg/dL, suggesting the efficacy of this approach.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"69 - 75"},"PeriodicalIF":1.4,"publicationDate":"2015-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287779","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}
S. Morikawa, N. Komatsu, Sonoko Sakata, Akari Nakamura-Utsunomiya, S. Okada, T. Tajima
Pseudohypoaldosteronism type 1 (PHA1) is a disease characterized by neonatal salt loss due to aldosterone resistance. Two types of PHA1 are known: an autosomal recessive systemic form and an autosomal dominant renal form. The cause of the renal form of PHA1 is heterozygous mutations in NR3C2, which encodes the mineralocorticoid receptor (MR). We encountered two female Japanese infants with the renal form of PHA1 and analyzed NR3C2. The two patients had poor weight gain, and one was developmentally delayed. Genetic analysis identified one novel mutation (c.492_493insTT, p.Met166LeufsX8) and one previously reported mutation (p.R861X). The two produced a premature stop codon, resulting in haploinsufficiency of the MR. In conclusion, genetic analysis of NR3C2 is useful for diagnosis and planning therapeutic strategies.
{"title":"Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2","authors":"S. Morikawa, N. Komatsu, Sonoko Sakata, Akari Nakamura-Utsunomiya, S. Okada, T. Tajima","doi":"10.1297/cpe.24.135","DOIUrl":"https://doi.org/10.1297/cpe.24.135","url":null,"abstract":"Pseudohypoaldosteronism type 1 (PHA1) is a disease characterized by neonatal salt loss due to aldosterone resistance. Two types of PHA1 are known: an autosomal recessive systemic form and an autosomal dominant renal form. The cause of the renal form of PHA1 is heterozygous mutations in NR3C2, which encodes the mineralocorticoid receptor (MR). We encountered two female Japanese infants with the renal form of PHA1 and analyzed NR3C2. The two patients had poor weight gain, and one was developmentally delayed. Genetic analysis identified one novel mutation (c.492_493insTT, p.Met166LeufsX8) and one previously reported mutation (p.R861X). The two produced a premature stop codon, resulting in haploinsufficiency of the MR. In conclusion, genetic analysis of NR3C2 is useful for diagnosis and planning therapeutic strategies.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"24 1","pages":"135 - 138"},"PeriodicalIF":1.4,"publicationDate":"2015-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.24.135","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287100","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}
Endochondral bone formation involves multiple steps, consisting of the condensation of undifferentiated mesenchymal cells, proliferation and hypertrophic differentiation of chondrocytes, and then mineralization. To date, various factors including transcription factors, soluble mediators, extracellular matrices (ECMs), and cell-cell and cell-matrix interactions have been identified to regulate this sequential, complex process. Moreover, recent studies have revealed that epigenetic and microRNA-mediated mechanisms also play roles in chondrogenesis. Defects in the regulators for the development of growth plate cartilage often cause skeletal dysplasias and growth failure. In this review article, I will describe the current understanding concerning the regulatory mechanisms underlying chondrogenesis.
{"title":"Current Understanding on the Molecular Basis of Chondrogenesis","authors":"T. Michigami","doi":"10.1297/cpe.23.1","DOIUrl":"https://doi.org/10.1297/cpe.23.1","url":null,"abstract":"Endochondral bone formation involves multiple steps, consisting of the condensation of undifferentiated mesenchymal cells, proliferation and hypertrophic differentiation of chondrocytes, and then mineralization. To date, various factors including transcription factors, soluble mediators, extracellular matrices (ECMs), and cell-cell and cell-matrix interactions have been identified to regulate this sequential, complex process. Moreover, recent studies have revealed that epigenetic and microRNA-mediated mechanisms also play roles in chondrogenesis. Defects in the regulators for the development of growth plate cartilage often cause skeletal dysplasias and growth failure. In this review article, I will describe the current understanding concerning the regulatory mechanisms underlying chondrogenesis.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"23 1","pages":"1 - 8"},"PeriodicalIF":1.4,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1297/cpe.23.1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66286639","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}
The initial treatment of childhood-onset Graves’ disease is based on the result of clinical trials of adult-onset disease. The major adverse events associated with methimazole, the only medication approved for childhood-onset disease in Japan, are considered to depend on the dose, and the risk of adverse events is increased in patients requiring higher doses for initial treatment. The serum levels of thyroid hormones are partially dependent on the enterohepatic circulation, especially under thyrotoxicosis. Cholesterol absorption inhibitors suppressing the enterohepatic circulation have the possibility of controlling thyrotoxicosis. In this clinical trial, 13 patients with childhood-onset Graves’ disease (5.5 to 15.3 yr old) were divided into three treatment groups: low-dose (0.25 mg/kg/d) methimazole monotherapy, high-dose (1.0 mg/kg/d) methimazole monotherapy, and combination (low-dose methimazole + a cholesterol absorption inhibitor) therapy. The therapeutic efficacy was determined based on the rates of decrease of thyroid hormones for four weeks. The high-dose methimazole regimen was superior in efficacy to the low-dose methimazole regimen, while the combination therapy demonstrated effects equal to those of the high-dose monotherapy. Therefore, combination therapy with a cholesterol absorption inhibitor can improve thyrotoxicosis, and the dose of methimazole can be reduced in the initial treatment of child-onset Graves’ disease.
{"title":"Clinical Trial of Four Weeks of Combination Therapy with Low-dose Methimazole and a Cholesterol Absorption Inhibitor as the Initial Treatment for Childhood-onset Graves’ Disease","authors":"S. Takakuwa, Yoko Kina","doi":"10.1297/cpe.23.17","DOIUrl":"https://doi.org/10.1297/cpe.23.17","url":null,"abstract":"The initial treatment of childhood-onset Graves’ disease is based on the result of clinical trials of adult-onset disease. The major adverse events associated with methimazole, the only medication approved for childhood-onset disease in Japan, are considered to depend on the dose, and the risk of adverse events is increased in patients requiring higher doses for initial treatment. The serum levels of thyroid hormones are partially dependent on the enterohepatic circulation, especially under thyrotoxicosis. Cholesterol absorption inhibitors suppressing the enterohepatic circulation have the possibility of controlling thyrotoxicosis. In this clinical trial, 13 patients with childhood-onset Graves’ disease (5.5 to 15.3 yr old) were divided into three treatment groups: low-dose (0.25 mg/kg/d) methimazole monotherapy, high-dose (1.0 mg/kg/d) methimazole monotherapy, and combination (low-dose methimazole + a cholesterol absorption inhibitor) therapy. The therapeutic efficacy was determined based on the rates of decrease of thyroid hormones for four weeks. The high-dose methimazole regimen was superior in efficacy to the low-dose methimazole regimen, while the combination therapy demonstrated effects equal to those of the high-dose monotherapy. Therefore, combination therapy with a cholesterol absorption inhibitor can improve thyrotoxicosis, and the dose of methimazole can be reduced in the initial treatment of child-onset Graves’ disease.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"23 1","pages":"17 - 25"},"PeriodicalIF":1.4,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66286706","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}
K. Ozono, Y. Hasegawa, M. Minagawa, M. Adachi, N. Namba, I. Kazukawa, T. Kitaoka, Y. Asakura, Asami Shimura, Y. Naito
Oral sodium phosphate formulations indicated for hypophosphatemia are commercially available worldwide. In Japan, however, many medical institutes have used hospital dispensary or foreign over-the-counter formulations because no such medication with an indication covered by the health insurance system is domestically available. To address this problem, we initiated the development of Phosribbon®. The present study evaluated the efficacy and safety of Phosribbon® in 16 patients with hereditary hypophosphatemic rickets. The optimal dosage and an administration pattern were also investigated. Administration of the agent resulted in an increase in the level of serum phosphorus in all patients, which implied that the employed dosage was appropriate. The dosage and administration pattern were adjusted based on comprehensive considerations, including changes in clinical laboratory values such as serum phosphorus, alkaline phosphatase and intact PTH, the dosage of a concomitantly administered activated vitamin D formulation and characteristics of individual patients. Adverse drug reactions were observed in 2 patients, neither of which were serious or necessitated therapy dose reduction or discontinuation. We conclude that Phosribbon® is a safe and effective treatment for patients with hypophosphatemic rickets and that dose adjustment in this therapy can be guided by the results of regular clinical examination and renal ultrasonography. (ClinicalTrials.gov Identifier: NCT01237288)
{"title":"Therapeutic Use of Oral Sodium Phosphate (Phosribbon® Combination Granules) in Hereditary Hypophosphatemic Rickets","authors":"K. Ozono, Y. Hasegawa, M. Minagawa, M. Adachi, N. Namba, I. Kazukawa, T. Kitaoka, Y. Asakura, Asami Shimura, Y. Naito","doi":"10.1297/cpe.23.9","DOIUrl":"https://doi.org/10.1297/cpe.23.9","url":null,"abstract":"Oral sodium phosphate formulations indicated for hypophosphatemia are commercially available worldwide. In Japan, however, many medical institutes have used hospital dispensary or foreign over-the-counter formulations because no such medication with an indication covered by the health insurance system is domestically available. To address this problem, we initiated the development of Phosribbon®. The present study evaluated the efficacy and safety of Phosribbon® in 16 patients with hereditary hypophosphatemic rickets. The optimal dosage and an administration pattern were also investigated. Administration of the agent resulted in an increase in the level of serum phosphorus in all patients, which implied that the employed dosage was appropriate. The dosage and administration pattern were adjusted based on comprehensive considerations, including changes in clinical laboratory values such as serum phosphorus, alkaline phosphatase and intact PTH, the dosage of a concomitantly administered activated vitamin D formulation and characteristics of individual patients. Adverse drug reactions were observed in 2 patients, neither of which were serious or necessitated therapy dose reduction or discontinuation. We conclude that Phosribbon® is a safe and effective treatment for patients with hypophosphatemic rickets and that dose adjustment in this therapy can be guided by the results of regular clinical examination and renal ultrasonography. (ClinicalTrials.gov Identifier: NCT01237288)","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"23 1","pages":"9 - 15"},"PeriodicalIF":1.4,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66287384","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}
Sayaka Yamamoto, K. Okuhara, H. Tonoki, S. Iizuka, Noriko Nihei, T. Tajima
Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. Recently, this disease was proved to be caused by mutations in SLC16A2 coding for the monocarboxylate thyroid hormone transporter 8 (MCT8). Here we describe a 26-year -old Japanese patient with AHDS who had deletion of exon 3 of SLC16A2.
allan - hernton - dudley综合征(AHDS)是一种X相关疾病，其特征是先天性张力过低，发展为痉挛伴严重精神运动迟缓，并伴有甲状腺激素水平改变，特别是血清T3水平高。最近，这种疾病被证明是由SLC16A2编码单羧酸甲状腺激素转运体8 (MCT8)的突变引起的。在这里，我们描述了一位26岁的日本AHDS患者，他的SLC16A2外显子3缺失。
{"title":"A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome","authors":"Sayaka Yamamoto, K. Okuhara, H. Tonoki, S. Iizuka, Noriko Nihei, T. Tajima","doi":"10.1297/cpe.22.83","DOIUrl":"https://doi.org/10.1297/cpe.22.83","url":null,"abstract":"Allan-Herndon-Dudley Syndrome (AHDS), an X linked condition, is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays, in combination with altered thyroid hormone levels, in particular, high serum T3 levels. Recently, this disease was proved to be caused by mutations in SLC16A2 coding for the monocarboxylate thyroid hormone transporter 8 (MCT8). Here we describe a 26-year -old Japanese patient with AHDS who had deletion of exon 3 of SLC16A2.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"22 1","pages":"83 - 86"},"PeriodicalIF":1.4,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66286880","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}
M. Adachi, Y. Asakura, K. Muroya, H. Goto, H. Kigasawa
We report five consecutive patients who underwent hematopoietic stem cell transplantation (HSCT) to treat leukemia or neuroblastoma early in their lives and later manifested abnormal patterns of adipose tissue distribution. Lipoatrophy was remarkable in the gluteal regions and extremities, whereas subcutaneous fat was preserved in the cheeks, neck, and abdomen. In addition, visceral fat deposition, fatty changes in the liver, and metabolic derangements such as insulin resistance and hypertriglyceridemia were evident. These features resemble Dunnigan-type familial partial lipodystrophy, which is a rare condition caused by LMNA gene mutation. These patients shared a common medical history involving HSCT, including conditioning with total body irradiation (TBI). They also received intensive chemotherapy because of multiple metastases (n = 3), relapse (n = 3), and repetitive HSCT (n = 3). We propose HSCT as a new etiology for acquired partial lipodystrophy and recommend that patients who undergo HSCT with TBI and intensive chemotherapy early in their lives must receive careful observation for the possible development of lipodystrophy and metabolic complications.
{"title":"Abnormal Adipose Tissue Distribution with Unfavorable Metabolic Profile in Five Children Following Hematopoietic Stem Cell Transplantation: A New Etiology for Acquired Partial Lipodystrophy","authors":"M. Adachi, Y. Asakura, K. Muroya, H. Goto, H. Kigasawa","doi":"10.1297/cpe.22.53","DOIUrl":"https://doi.org/10.1297/cpe.22.53","url":null,"abstract":"We report five consecutive patients who underwent hematopoietic stem cell transplantation (HSCT) to treat leukemia or neuroblastoma early in their lives and later manifested abnormal patterns of adipose tissue distribution. Lipoatrophy was remarkable in the gluteal regions and extremities, whereas subcutaneous fat was preserved in the cheeks, neck, and abdomen. In addition, visceral fat deposition, fatty changes in the liver, and metabolic derangements such as insulin resistance and hypertriglyceridemia were evident. These features resemble Dunnigan-type familial partial lipodystrophy, which is a rare condition caused by LMNA gene mutation. These patients shared a common medical history involving HSCT, including conditioning with total body irradiation (TBI). They also received intensive chemotherapy because of multiple metastases (n = 3), relapse (n = 3), and repetitive HSCT (n = 3). We propose HSCT as a new etiology for acquired partial lipodystrophy and recommend that patients who undergo HSCT with TBI and intensive chemotherapy early in their lives must receive careful observation for the possible development of lipodystrophy and metabolic complications.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"22 1","pages":"53 - 64"},"PeriodicalIF":1.4,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66286968","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}
Akimune Kaga, Akiko Saito-hakoda, M. Uematsu, Miki Kamimura, Junko Kanno, S. Kure, I. Fujiwara
Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP level at neonatal screening and was initially treated with hydrocortisone at 8 days of age. On day 11 after birth, he had a generalized tonic seizure. No evidence of serum electrolyte abnormalities was observed. Brain MRI revealed white matter abnormalities that consisted of bilateral small diffuse hyperintensities on T1-weighted images with slightly low intensity on T2-weighted images in the watershed area. Several factors associated with brain white matter abnormalities in adults with CAH, such as increasing age, hypertension, diabetes and corticosteroid replacement, were not applicable. Although the cause of the phenomenon in this case is unclear, brain white matter abnormality could be observed in newborn infants with CAH as well as in adult patients.
{"title":"Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia","authors":"Akimune Kaga, Akiko Saito-hakoda, M. Uematsu, Miki Kamimura, Junko Kanno, S. Kure, I. Fujiwara","doi":"10.1297/cpe.22.77","DOIUrl":"https://doi.org/10.1297/cpe.22.77","url":null,"abstract":"Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP level at neonatal screening and was initially treated with hydrocortisone at 8 days of age. On day 11 after birth, he had a generalized tonic seizure. No evidence of serum electrolyte abnormalities was observed. Brain MRI revealed white matter abnormalities that consisted of bilateral small diffuse hyperintensities on T1-weighted images with slightly low intensity on T2-weighted images in the watershed area. Several factors associated with brain white matter abnormalities in adults with CAH, such as increasing age, hypertension, diabetes and corticosteroid replacement, were not applicable. Although the cause of the phenomenon in this case is unclear, brain white matter abnormality could be observed in newborn infants with CAH as well as in adult patients.","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"22 1","pages":"77 - 81"},"PeriodicalIF":1.4,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66286844","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}
{"title":"The Cubic Functions for Spline Smoothed L, S and M Values for BMI Reference Data of Japanese Children","authors":"N. Kato, H. Takimoto, N. Sudo","doi":"10.1297/cpe.22.87","DOIUrl":"https://doi.org/10.1297/cpe.22.87","url":null,"abstract":"","PeriodicalId":10678,"journal":{"name":"Clinical Pediatric Endocrinology","volume":"22 1","pages":"87 - 87"},"PeriodicalIF":1.4,"publicationDate":"2013-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66286956","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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