Výsledky vyhledávání

Hypothalamo-pituitary hypothyroidism detected by neonatal screening for congenital hypothyroidism using measurement of thyroidstimulating hormone and thyroxine

Autor: Seizo Suwa, Yumi Asakura, Yuji Yamagami, Katsuhiko Tachibana, Masanori Adachi

Publikováno v: Acta Paediatrica. 91:172-177

UNLABELLED The optimal strategy in neonatal screening for congenital hypothyroidism is still a subject of controversy. In Kanagawa Prefecture in Japan, simultaneous thyroid-stimulating hormone (TSH) and T4/fT4 determination has been used, while the r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcef464e6720aa6c891141394c517085
https://doi.org/10.1080/080352502317285171

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Three Novel PHEX Gene Mutations in Japanese Patients with X-Linked Hypophosphatemic Rickets

Autor: Kenji Fujieda, Shuji Abe, Nozomi Shinohara, Toshihiro Tajima, Masanori Adachi, Yumi Asakura, Toshiaki Tanaka, Yoshiki Hayashi, Koji Okuhara, Kohei Sato, Katsuhiko Tachibana, Noriyuki Katsumata, Mari Murashita, Seizo Suwa, Jun Nakae

Publikováno v: Pediatric Research. 48:536-540

X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder characterized by renal phosphate wasting, abnormal vitamin D metabolism, and defects of bone mineralization. The phosphate-regulating gene on the X-chromosome (PHEX) that is def

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8848d3c862951ae6ca7ffe117ad3feec
https://doi.org/10.1203/00006450-200010000-00019

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A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17.ALPHA.-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CYP 17 Gene Mutations

Autor: Masanori Adachi, Gen Nishimura, Seizo Suwa, Katsuhiko Tachibana, Yumi Asakura

Publikováno v: Endocrine Journal. 46:285-292

We report the case of a 17-year-old boy with delayed puberty, who presented a complexity of clinical problems. An analysis of steroid hormones led to a diagnosis of 17alpha-hydroxylase/17,20-lyase deficiency (17OHD). Unlike typical cases of 17OHD, ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd9831568e04cf35e297af34df2d325
https://doi.org/10.1507/endocrj.46.285

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Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

Autor: Hatae Maesaka, Mitsuo Masuno, Yoshio Makita, Y Kuroki, K. Hizukuri, Kiyoshi Imaizumi, Masanori Adachi, T. Okada, Hiroki Kurahashi, Katsuhiko Tachibana, Seizo Suwa

Publikováno v: European Journal of Pediatrics. 157:34-38

The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a748fe4cefcf937b9c046a6fd5708bf3
https://doi.org/10.1007/s004310050762

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Cerebral Infarction in Three Infant Cases of Congenital Adrenal Hyperplasia

Autor: Masanori Adachi, Seizo Suwa, Katsuhiko Tachibana, Hatae Maesaka, Toshihisa Okada

Publikováno v: Clinical Pediatric Endocrinology. 6:11-14

The objective of this study was to discuss the etiology of cerebral infarction in three cases of congenital adrenal hyperplasia (CAH) based on detailed individual case reports. Patients consisted of three children, two female, one male, 3y, 2y 6mon.,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f85fb2ef598e0f415225efcc88be8677
https://doi.org/10.1297/cpe.6.11

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