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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/30393440/methylome-analysis-of-thyroid-ectopy-shows-no-disease-specific-dna-methylation-signature
#1
Satoshi Narumi, Keiko Matsubara, Tomohiro Ishii, Tomonobu Hasegawa
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/30393439/efficacy-and-safety-of-growth-hormone-treatment-in-japanese-children-with-small-for-gestational-age-short-stature-in-accordance-with-japanese-guidelines
#2
Susumu Yokoya, Toshiaki Tanaka, Kazuo Itabashi, Hisao Osada, Hideaki Hirai, Yoshiki Seino
The efficacy and safety of recombinant human GH (rhGH) treatment were assessed in Japanese children with small-for-gestational-age short stature. A total of 88 patients were enrolled in the comparative and extension studies. At the end of the comparative study (24 mo), the mean height SD score for chronological age had significantly increased in the 0.23 mg/kg/wk and 0.47 mg/kg/wk groups with increments of 0.84 ± 0.42 and 1.50 ± 0.44 SD, respectively. In the extension study, the dose could be increased based on the pre-defined growth criteria...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30393438/establishment-of-a-longitudinal-growth-chart-corresponding-to-pubertal-timing
#3
Keisuke Yoshii, Toshiaki Tanaka
A standard growth chart is indispensable for evaluating an individual's growth. In Japan, the cross-sectional growth chart from fiscal year 2000 is most commonly used in the clinical setting. However, when using the current standard growth chart to assess growth during puberty, two problems are encountered. First, the individual pubertal height trajectory does not fit the cross-sectional growth chart because the pubertal height curve of individuals rises more sharply than that indicated by the cross-sectional growth chart...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30393437/health-problems-of-adolescent-and-adult-patients-with-21-hydroxylase-deficiency
#4
Toshihiro Tajima
Twenty-one-hydroxylase deficiency (21-OHD) is one of the most common forms of congenital adrenal hyperplasias. Since the disease requires life-long steroid hormone replacement, transition from pediatric clinical care to adolescent and adult care is necessary. Recently, several studies have shown that morbidity and quality of life in adolescent and adult patients with 21-OHD are impaired by obesity, hypertension, diabetes mellitus, impaired glucose tolerance, dyslipidemia, and osteoporosis. In addition, excess adrenal androgen impairs fertility in both females and males...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083039/responses-to-the-letter-to-the-editor-does-growth-hormone-treatment-affect-patients-with-and-without-a-mitochondrial-disorder-differentially-vol-27-no-2-p-107-108-2018
#5
Susumu Yokoya, Tomonobu Hasegawa, Keiichi Ozono, Hiroyuki Tanaka, Susumu Kanzaki, Toshiaki Tanaka, Kazuo Chihara, Nan Jia, Christopher J Child, Katsuichiro Ihara, Jumpei Funai, Noriyuki Iwamoto, Yoshiki Seino
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/30083038/a-pediatric-case-of-insulinoma-and-a-novel-men1-mutation-the-efficacy-of-the-combination-therapy-of-diazoxide-and-cornstarch
#6
Satsuki Nakano, Takeshi Sato, Mayumi Hosokawa, Chisato Takagi, Fumiko Yoshida, Tomohiro Ishii, Seiji Sato, Tomonobu Hasegawa
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/30083037/a-familial-case-of-spondyloepiphyseal-dysplasia-tarda-caused-by-a-novel-splice-site-mutation-in-trappc2
#7
Mami Fukuma, Masaki Takagi, Tomoyuki Shimazu, Hoseki Imamura, Hiroko Yagi, Gen Nishimura, Tomonobu Hasegawa
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/30083036/vitamin-d-deficiency-associated-with-dilated-cardiomyopathy-in-early-infancy-caused-by-maternal-cholestasis
#8
Tomona Omotobara-Yabe, Shuji Kuga, Masahiro Takeguchi, Kenji Ihara
Breast feeding is known to be a major cause of vitamin D deficiency in infants because the content of vitamin D in breast milk is significantly lower than that in formula. We report a case of a 1-mo-old boy who developed hypocalcemic seizures and dilated cardiomyopathy caused by vitamin D deficiency despite being fed a sufficient amount of regular formula. The cause of vitamin D deficiency in this case was maternal vitamin deficiency due to severe hyperemesis and insufficient sunlight exposure, induced mainly by the malabsorption of fat-soluble vitamins caused by maternal cholestasis...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083035/a-case-of-perinatal-hypophosphatasia-with-a-novel-mutation-in-the-alpl-gene-clinical-course-and-review-of-the-literature
#9
Maki Oyachi, Daisuke Harada, Natsuko Sakamoto, Kaoru Ueyama, Kawai Kondo, Kanako Kishimoto, Masafumi Izui, Yuiko Nagamatsu, Hiroko Kashiwagi, Miho Yamamuro, Makoto Tamura, Shin Kikuchi, Tomoyuki Akiyama, Toshimi Michigami, Yoshiki Seino, Noriyuki Namba
Hypophosphatasia (HPP) is a metabolic bone disease characterized by failure of bone calcification and vitamin B6 dependent seizures. It is caused by loss-of-function mutations in the ALPL gene. A newborn girl required respiratory support by nasal-directional positive airway pressure at birth, and pyridoxine hydrochloride administration for vitamin B6-dependent seizures observed from day two. Umbilical cord blood showed low alkaline phosphatase (ALP) activity and high pyridoxal phosphate levels. Radiographs showed severe rickets-like appearance of the bones...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083034/therapy-with-propylthiouracil-for-t3-predominant-neonatal-graves-disease-a-case-report
#10
Emi Hamajima, Masahiro Noda, Emina Nai, Satoka Akiyama, Yoji Ikuta, Natsuko Obana, Takahiro Kawaguchi, Kenta Hayashi, Kunihiro Oba, Tomohiro Yoshida, Tatsuo Katori, Masayuki Kokaji
This case report describes a male neonate with Graves' disease. The mother's pregnancy was complicated by poorly controlled Graves' disease. The neonate was diagnosed with thyroxine (T3)-predominant Graves' disease with low free triiodothyronine (T4) and high free T3 during antithyroid drug therapy. The patient also presented with persistent pulmonary hypertension of the newborn due to hyperthyroidism and airway stenosis caused by goiter. It was difficult to control thyroid function and maintain free T4 levels with inorganic iodine, thiamazole, and levothyroxine sodium hydrate...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083033/sexual-precocity-in-a-girl-with-early-onset-graves-disease
#11
Eishin Ogawa, Tsuyoshi Isojima, Yasuhiro Sato, Kahoko Motoyama, Hiroko Kodama
We describe the case of a girl diagnosed with Graves' disease (GD) at 2 yr of age, who developed early puberty. Preoperative examination for craniosynostosis revealed thyrotoxicosis. While she was tall and her bone age was advanced at GD onset, her linear growth attenuated after commencement of anti-thyroid treatment. However, at approximately 6 yr of age, breast budding was recognized. Hormonal analysis revealed pubertal levels of LH response to a GnRH stimulation test and serum E2. Gonadal suppression therapy with GnRH agonist was initiated, and her adult stature slightly exceeded the genetic potential...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083032/novel-heterozygous-mutation-in-tbx1-in-an-infant-with-hypocalcemic-seizures
#12
Kosei Hasegawa, Hiroyuki Tanaka, Yousuke Higuchi, Yumiko Hayashi, Katsuhiro Kobayashi, Hirokazu Tsukahara
Patients with 22q11.2 deletion syndrome have characteristic facial appearance, palate abnormalities, hypoparathyroidism, thymic hypoplasia, and congenital heart disease. The 22q11.2 region includes TBX1 and 30 other genes. Analysis of Tbx1 transgenic mice showed that TBX1 was associated with the 22q11.2 deletion syndrome. In humans, TBX1 mutations have been reported in 22q11.2 deletion-negative patients with velocardiofacial syndrome or DiGeorge syndrome. Genotype-phenotype correlations are not fully understood in these patients...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083031/long-term-safety-and-efficacy-of-daily-recombinant-human-growth-hormone-treatment-in-japanese-short-children-born-small-for-gestational-age-final-report-from-an-open-and-multi-center-study
#13
Toshiaki Tanaka, Susumu Yokoya, Yuko Hoshino, Shintaro Hiro, Nobuhiko Ohki
Our study aimed at evaluating the safety and efficacy of GH treatment up to near adult height (NAH) for short children born small for gestational age (SGA). This was a multi-center, open-label, long-term extension study after a one-year, randomized, open-label, dose-response study. The primary objective was to assess safety, determined by adverse events and laboratory test parameters. Height parameters were evaluated as a secondary objective. The final data after all patients completed the study were reported...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083030/safety-and-effectiveness-including-intelligence-prognosis-of-diazoxide-in-pediatric-patients-with-hyperinsulinemic-hypoglycemia-special-survey-in-japan-long-term-all-case-survey
#14
Miwa Fukutomi, Minoru Shimodera, Yoshikazu Maeda, Mika Iwakura, Mitsuyoshi Hara
To evaluate the safety and effectiveness of the long-term administration of diazoxide in patients with hyperinsulinemic hypoglycemia, a post-marketing surveillance study was conducted. Between 2008 and 2015, with a maximum observation period of 7 yr, 384 patients were monitored; 117 (30.5%) experienced at least one adverse drug reaction (ADR). The most commonly observed ADR was hypertrichosis (8.6%). The incidence of water retention-related ADRs and cardiac failure-related ADRs was 8.3% and 3.4%, respectively, and many of these occurred within the first 2 mo of treatment...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083029/identification-of-compound-heterozygous-tshr-mutations-r109q-and-r450h-in-a-patient-with-nonclassic-tsh-resistance-and-functional-characterization-of-the-mutant-receptors
#15
Chiho Sugisawa, Kiyomi Abe, Yuka Sunaga, Matsuo Taniyama, Tomonobu Hasegawa, Satoshi Narumi
Genetic defects of the TSH receptor (TSHR) signaling pathway cause a form of congenital hypothyroidism (CH) known as TSH resistance. Consistent with the physiological understanding that thyroidal iodine uptake is up-regulated by TSHR signaling, most patients with TSH resistance have low to normal thyroidal 123 I uptake representing the classic TSH resistance. However, paradoxically high 123 I uptake was reported in four molecularly-confirmed patients indicating nonclassic TSH resistance. Here, we report the fifth patient with the nonclassic phenotype...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083028/uniparental-disomy-as-a-cause-of-pediatric-endocrine-disorders
#16
Keiko Matsubara, Masayo Kagami, Maki Fukami
Uniparental disomy (UPD) refers to a condition in which two homologous chromosomes or chromosomal regions are inherited from one parent. Recent studies have shown that UPD is not rare among the general population, arising from trisomy rescue, gamete complementation, and other mechanisms. Although UPD is not necessarily pathogenic, it can lead to various disease phenotypes by causing imprinting disorders or by unmasking autosomal recessive mutations. Notably, known UPD-mediated autosomal recessive disorders include congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 11β-hydroxylase deficiency, and 3β-hydroxysteroid dehydrogenase deficiency...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/30083027/three-practical-principles-in-planning-and-developing-health-care-transition-our-personal-perspectives
#17
Yukihiro Hasegawa, Helena Gleeson
Health care transition (HCT) is defined as an uninterrupted, coordinated, developmentally appropriate, psychosocially sound, and comprehensive process that is needed to assist the transition of young people from child to adult-centered care. Its importance has been discussed in pediatrics over the past decades but it is still a challenging subject to realize. In this mini-review, the authors present their personal opinions on HCT. The following are their three core suggestions: (1) patient-centered support and monitoring; (2) hospital-centered infrastructures with key personnel; and (3) flexibility in planning and modifying HCT procedures...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29662271/does-growth-hormone-treatment-affect-patients-with-and-without-a-mitochondrial-disorder-differentially
#18
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
#19
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
#20
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
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