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Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology

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https://www.readbyqxmd.com/read/29662271/does-growth-hormone-treatment-affect-patients-with-and-without-a-mitochondrial-disorder-differentially
#1
Josef Finsterer
No abstract text is available yet for this article.
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29662270/recombinant-human-growth-hormone-in-neonatal-onset-multisystem-inflammatory-disease
#2
Donato Rigante, Clelia Cipolla, Aurora Rossodivita
No abstract text is available yet for this article.
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29662269/two-siblings-with-congenital-central-hypothyroidism-caused-by-a-novel-mutation-in-the-igsf1-gene
#3
Makiko Oguma, Mizuki Kobayashi, Masayo Yamazaki, Koji Yokoyama, Shuntaro Morikawa, Takeshi Yamaguchi, Takanori Yamagata, Toshihiro Tajima
Genetic defects in the immunoglobulin superfamily member 1(IGSF1) protein are the cause of congenital central hypothyroidism (C-CH). Here we report two Japanese siblings with C-CH due to a novel IGSF1 mutation. The youngest brother showed a failure to thrive, hypothermia, and neonatal icterus six days after birth. Further endocrine evaluations led to the diagnosis of C-CH. In addition, PRL deficiency was later detected. In contrast, the elder brother did not show symptoms of severe hypothyroidism during the neonatal period, but he had been followed up by doctors due to psychomotor developmental delays since the age of 1 yr...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29662268/a-pediatric-case-of-pheochromocytoma-without-apparent-hypertension-associated-with-von-hippel-lindau-disease
#4
Junko Igaki, Akira Nishi, Takeshi Sato, Tomonobu Hasegawa
Pheochromocytomas are catecholamine-secreting tumors. These tumors are rare in children, and they may be associated with hereditary syndromes such as von Hippel-Lindau (VHL) disease. Most pediatric patients with pheochromocytoma present with sustained hypertension, while 10% to 69% of adult patients are asymptomatic. Herein, we present the case of a 12-yr-old Japanese girl with pheochromocytoma due to a germline mutation in the VHL (Arg161Gln). The only complaint was loss of weight. Pyrexia, anemia, and increases in C-reactive protein (CRP) and ferritin were observed...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29662267/decrement-in-bone-mineral-density-after-parathyroidectomy-in-a-pediatric-patient-with-primary-hyperparathyroidism
#5
Hidechika Morimoto, Hisakazu Nakajima, Jun Mori, Shota Fukuhara, Keiichi Shigehara, Shinsuke Adachi, Hajime Hosoi
Primary hyperparathyroidism (PHT) causes increased bone turnover, leading to reduction in bone mineral density (BMD). Parathyroidectomy is a definitive therapy and improves BMD in adult patients with PHT. However, there are no reports regarding alterations of BMD in pediatric or adolescent patients with PHT. Here, we report a case of a 13-yr-old boy with PHT who was referred to our institution for evaluation of hypercalcemia and hyperparathyroidism. Radiological investigation revealed an ectopic parathyroid adenoma below the right thyroid lobe...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29662266/thyroid-nodules-and-long-term-follow-up-among-childhood-cancer-survivors-who-underwent-hematopoietic-stem-cell-transplantation
#6
Shunsuke Shimazaki, Itsuro Kazukawa, Maine Ishida, Masanori Minagawa
Thyroid nodules have been observed in childhood cancer survivors (CCS) treated with chemotherapy and radiotherapy. We report four patients with thyroid nodules identified during the long-term follow-up of children who underwent hematopoietic stem cell transplantation (HSCT). The thyroid nodules were diagnosed as adenomatous goiter in all four patients. The interval between the primary cancer diagnosis and the occurrence of the thyroid nodules was more than 10 yr. Furthermore, all four patients underwent HSCT in conditioning with total body irradiation (TBI) before the age of 10 yr...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29662265/thyroid-hormone-status-in-patients-with-severe-selenium-deficiency
#7
Masanobu Kawai, Yasuko Shoji, Shinsuke Onuma, Yuri Etani, Shinobu Ida
Selenium (Se) is an essential trace element that is involved in numerous biological processes in the form of a selenoprotein such as iodothyronine deiodinase (DIO). Se deficiency may prevent the conversion of T4 to T3 through reducing DIO expression and thereby affecting thyroid hormone status. However, this has not been well documented in humans. In this study, to clarify the association between Se and thyroid hormone status, we investigated the thyroid hormone levels in patients with severe Se deficiency (< 2 µg/dl)...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29662264/chromosome-6q24-related-diabetes-mellitus
#8
Tohru Yorifuji, Shinji Higuchi, Yuki Hosokawa, Rie Kawakita
Chromosome 6q24-related diabetes mellitus is the most common cause of transient neonatal diabetes (TNDM), accounting for approximately two-thirds of all TNDM cases. Patients with 6q24-TNDM develop insulin-requiring diabetes soon after birth, followed by the gradual improvement and eventual remission of the disorder by 18 mo of age. The most important clinical feature of affected patients is a small-for-gestational age (SGA) birth weight, which reflects the lack of insulin in utero. It is believed that 6q24-TNDM is caused by the overexpression of the paternal allele of the imprinted locus in chromosome 6q24, which contains only two expressed genes, PLAGL1 and HYMAI...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29403157/a-follow-up-during-puberty-in-a-japanese-girl-with-type-a-insulin-resistance-due-to-a-novel-mutation-in-insr
#9
Akiko Saito-Hakoda, Aki Nishii, Takashi Uchida, Atsuo Kikuchi, Junko Kanno, Ikuma Fujiwara, Shigeo Kure
No abstract text is available yet for this article.
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29403156/chiari-type-1-malformation-associated-with-central-sleep-apnea-after-high-dose-growth-hormone-gh-therapy-in-a-12-year-old-boy-a-case-report
#10
Toshihiko Mori, Eri Nishino, Tomomi Jitsukawa, Emiko Hoshino, Satoshi Hirakawa, Yuki Kuroiwa, Shigeto Fuse, Yuko Yoto, Hiroyuki Tsutsumi
We describe the case of a short-statured 12-yr-old boy who developed a Chiari type 1 malformation associated with central sleep apnea after administration of high-dose GH therapy, which he had been receiving since the age of 10 yr and 4 mo. He responded well to GH therapy, and his height increased by 18.8 cm in 2 yr. At 12 yr and 4 mo of age, his mother reported that he had developed sleep apnea during the previous year and it had worsened over a month prior to presentation at our hospital. Otolaryngological examination did not reveal tonsillar or adenoidal hypertrophy...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29403155/fluctuation-of-blood-glucose-levels-in-an-infant-with-an-ileostomy-on-continuous-glucose-monitoring-a-case-report
#11
Seiichi Tomotaki, Tetsuo Naramura, Junko Hanakawa, Katsuaki Toyoshima, Koji Muroya, Masanori Adachi
Infants with an ileostomy can be at high risk of hypoglycemia because of inadequate nutritional intake; however, there are no reports investigating blood glucose (BG) in infants with ileostomy. We experienced a case of an extremely low birth weight infant who was born at 24 wk of gestation and weighted 623 g. He received an ileostomy because of an intestinal perforation. After the ileostomy, he had recurrent hypoglycemia. Continuous glucose monitoring showed fluctuation of BG levels (postprandial BG elevations and subsequent declines) and non-fasting hypoglycemia, which were undetectable with intermittent fasting BG measurement...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29403154/perinatal-factors-affecting-growth-and-development-at-age-3-years-in-extremely-low-birth-weight-infants-born-small-for-gestational-age
#12
Nozomi Matsuda, Atsuko Taki, Atsumi Tsuji, Keisuke Nakajima, Kei Takasawa, Chikako Morioka, Yoshihiro Minosaki, Kikuko Oku, Kenichi Kashimada, Tomohiro Morio
Factors affecting growth and development in extremely low birth weight infants (ELBWIs) born small for gestational age (SGA) have not been precisely elucidated. We performed a retrospective analysis of ELBWIs born SGA who were treated in the neonatal intensive care unit of Kawaguchi Municipal Medical Centre, Japan. A total 244 ELBWIs were born from 2003 to 2010, and 31 were born with weight and height below the 10th percentile for their gestational age. Among the 31 ELBWIs born SGA, we excluded 9 who died before they reached 3 yr of age or who had severe developmental retardation...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29403153/postnatal-bmi-changes-in-children-with-different-birthweights-a-trial-study-for-detecting-early-predictive-factors-for-pediatric-obesity
#13
Yuichi Nakagawa, Toshiki Nakanishi, Eiichiro Satake, Rie Matsushita, Hirokazu Saegusa, Akira Kubota, Hiromune Natsume, Yukinobu Shibata, Yasuko Fujisawa
The purpose of this study was to clarify the degree of early postnatal growth by birthweight and detect early predictive factors for pediatric obesity. Body mass index (BMI) and degree of obesity were examined in children in the fourth year of elementary school and second year of junior high school. Their BMI at birth and three years of age were also examined. Based on birthweight, participants were divided into three groups: low (< 2500 g), middle (2500-3500 g), and high (> 3500 g). Furthermore, according to the degree of obesity, they were divided into two groups: obese (20% ≤) and non-obese (20% >)...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29403152/adrenocortical-carcinoma-characterized-by-gynecomastia-a-case-report
#14
Takako Takeuchi, Yuko Yoto, Akira Ishii, Takeshi Tsugawa, Masaki Yamamoto, Tsukasa Hori, Hotaka Kamasaki, Kazutaka Nogami, Takanori Oda, Akihiro Nui, Sachiko Kimura, Takuya Yamagishi, Keiko Homma, Tomonobu Hasegawa, Maki Fukami, Yoko Watanabe, Hidehiko Sasamoto, Hiroyuki Tsutsumi
We present a 4-yr-old boy with adrenocortical carcinoma (ACC), diagnosed due to the appearance of gynecomastia as the presenting symptom. Six months prior to admission, an acute growth spurt along with the development of bilateral breast swelling was observed. He did not present any features of virilization, including enlargement of the testes, increase in testis volume, and penis size. Laboratory investigations showed gonadotropin-independent hypergonadism, with low LH/ FSH levels and elevated estradiol/testosterone levels...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29403151/new-insights-into-the-pharmacological-treatment-of-pediatric-patients-with-type-2-diabetes
#15
Tatsuhiko Urakami
The principal treatment for children and adolescents with type 2 diabetes is dietary and exercise management. However, the blood glucose levels of some patients receiving this treatment fail to improve; thus, pharmacological treatment is eventually required. The pathophysiology of type 2 diabetes in pediatric patients appears to be similar to that in adults; thus, the range of antidiabetic drugs used in adults is likely to be effective in pediatric patients as well. However, in the majority of countries, including Japan, only metformin, glimepiride, and insulin have been approved for use in pediatric patients...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026278/a-japanese-boy-with-fructose-1-6-bisphosphatase-deficiency-who-had-a-novel-fbp1-mutation-p-phe90val
#16
Keiko Nagahara, Daisuke Ariyasu, Junko Igaki, Yuki Hasegawa, Yukihiro Hasegawa
No abstract text is available yet for this article.
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026277/novel-splice-site-mutation-in-gata3-in-a-patient-with-hdr-syndrome
#17
Kumihiro Matsuo, Arisa Kobayashi, Yusuke Tanahashi, Satoko Maruyama, Yoshihiro Niitsu, Hidenori Katsuta, Akiko Furuya, Shigeru Suzuki, Mitsunobu Kawamura, Hiroshi Azuma
No abstract text is available yet for this article.
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026276/five-cases-of-childhood-onset-graves-disease-treated-with-either-surgery-or-radio-iodine-therapy
#18
Kouki Tomari, Masahiro Goto, Aya Shimada, Hiroko Yagi, Yuka Nagashima, Yukihiro Hasegawa
There are three major therapeutic options for the treatment of Graves' disease (GD): antithyroid drugs (ATDs), thyroidectomy, and radio-iodine (RAI) therapy. ATDs are the initial treatment option for children. However, some pediatric GD patients who are initially treated with ATDs require other type of treatments later on. We reviewed the medical records of childhood-onset GD cases retrospectively to report the clinical course of patients who received either surgery or RAI therapy subsequent to treatment with ATDs...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026275/a-case-of-45-x-47-xxx-mosaic-turner-syndrome-with-limb-length-discrepancy
#19
Nozomi Hishimura-Yonemaru, Koji Okuhara, Nobuhiro Takahashi, Hidefumi Tonoki, Susumu Iizuka, Toshihiro Tajima
Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29026274/a-case-of-an-infant-with-congenital-combined-pituitary-hormone-deficiency-and-normalized-liver-histology-of-infantile-cholestasis-after-hormone-replacement-therapy
#20
Keisuke Wada, Hironori Kobayashi, Aisa Moriyama, Yasuhiro Haneda, Yuichi Mushimoto, Yuki Hasegawa, Kazumichi Onigata, Koji Kumori, Noriyoshi Ishikawa, Riruke Maruyama, Tsuyoshi Sogo, Lynne Murphy, Takeshi Taketani
Congenital combined pituitary hormone deficiency (CPHD) may present with cholestasis in the neonate or during early infancy. However, its precise mechanism is unknown. A 3-mo-old boy presented with cryptorchidism and hypoplastic scrotum after birth. Neonatal jaundice was noted but temporarily improved with phototherapy. Jaundice recurred at 2 mo of age. Elevated direct bilirubin (D-Bil) and liver dysfunction were found but cholangiography showed no signs of biliary atresia (BA). Liver biopsy findings showed giant cell formation of hepatocytes with hypoplastic bile ducts...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
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