Search Results - "TOSHIHIRO TAJIMA"

Genetic causes of central precocious puberty by Toshihiro Tajima

“…[Highlights] ●The review clarifies new genetic etiologies of CPP. ●The genetic etiologies are useful for a better understanding of the timing of puberty. ●The…”
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Newborn Screening in Japan-2021 by Tajima, Toshihiro

“…Japan's Newborn Mass Screening (NBS) was started in 1977 for amino acid metabolism disorders (phenylketonuria (PKU), homocystinuria, maple syrup urine,…”
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Genetic causes of central precocious puberty by Tajima, Toshihiro

“…Central precocious puberty (CPP) is a condition in which the hypothalamus–pituitary–gonadal system is activated earlier than the normal developmental stage…”
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Health problems of adolescent and adult patients with 21-hydroxylase deficiency by Tajima, Toshihiro

“…Twenty-one-hydroxylase deficiency (21-OHD) is one of the most common forms of congenital adrenal hyperplasias. Since the disease requires life-long steroid…”
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Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline [Opinion] by Yanase, Toshihiko, Tajima, Toshihiro, Katabami, Takuyuki, Iwasaki, Yasumasa, Tanahashi, Yusuke, Sugawara, Akira, Hasegawa, Tomonobu, Mune, Tomoatsu, Oki, Yutaka, Nakagawa, Yuichi, Miyamura, Nobuhiro, Shimizu, Chikara, Otsuki, Michio, Nomura, Masatoshi, Akehi, Yuko, Tanabe, Makito, Kasayama, Soji

“…This clinical practice guideline of the diagnosis and treatment of adrenal insufficiency (AI) including adrenal crisis was produced on behalf of the Japan…”
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Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan by Yatsuga, Shuichi, Amano, Naoko, Nakamura-Utsunomiya, Akari, Kobayashi, Hironori, Takasawa, Kei, Nagasaki, Keisuke, Nakamura, Akie, Nishigaki, Satsuki, Numakura, Chikahiko, Fujiwara, Ikuma, Minamitani, Kanshi, Hasegawa, Tomonobu, Tajima, Toshihiro

“…Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis that causes various symptoms such as skeletal malformations, disorders of sex…”
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Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists by Takasawa, Kei, Nakamura-Utsunomiya, Akari, Amano, Naoko, Ishii, Tomohiro, Hasegawa, Tomonobu, Hasegawa, Yukihiro, Tajima, Toshihiro, Ida, Shinobu

“…To manage of 21-hydroxylase deficiency (21-OHD), transition medicine from pediatric to adult health care is an important process and requires individually…”
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A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism by Tajima, Toshihiro, Oguma, Makiko

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A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism by Toshihiro Tajima, Makiko Oguma

“…[Introduction] Individuals with deletions and/or pathogenic variants of the Immunoglobulin superfamily 1 (IGSF1) gene may show congenital central…”
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Health problems of adolescent and adult patients with 21-hydroxylase deficiency by Toshihiro Tajima

“…[Abstract.] Twenty-one-hydroxylase deficiency (21-OHD) is one of the most common forms of congenital adrenal hyperplasias. Since the disease requires life-long…”
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Treatment of X-Linked Hypophosphatemia in Children by Tajima, Toshihiro, Hasegawa, Yukihiro

“…The conventional treatment for X-linked hypophosphatemia (XLH), consisting of phosphorus supplementation and a biologically active form of vitamin D…”
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Acute Perimyocarditis in an Adolescent Japanese Male after a Booster Dose of the BNT162b2 COVID-19 Vaccine by Morita, Yusuke, Matsubara, Daisuke, Seki, Mitsuru, Tamura, Daisuke, Tajima, Toshihiro

“…Perimyocarditis is a rare and serious cardiac complication following COVID-19 vaccination. Young males are most at risk after the second dose. With the…”
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Clinical features and molecular basis of pseudohypoaldosteronism type 1 by Tajima, Toshihiro, Morikawa, Shuntaro, Nakamura, Akie

“…Pseudohypoaldosteronism (PHA) type 1 is a disease showing mineralocorticoid resistance in the kidney and/or other mineralocorticoid target tissues. Patients…”
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Neonatal mass screening for 21-hydroxylase deficiency by Tajima, Toshihiro, Fukushi, Masaru

“…Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to…”
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Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision) by Nagasaki, Keisuke, Minamitani, Kanshi, Nakamura, Akie, Kobayashi, Hironori, Numakura, Chikahiko, Itoh, Masatsune, Mushimoto, Yuichi, Fujikura, Kaori, Fukushi, Masaru, Tajima, Toshihiro

“…Purpose of developing the guidelines: Newborn screening (NBS) for congenital hypothyroidism (CH) was started in 1979 in Japan, and early diagnosis and…”
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A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication] by Tajima, Toshihiro, Nakamura, Akie, Ishizu, Katsura

“…Congenital central hypothyroidism (C-CH) is a rare disease known to be caused by mutations of the genes encoding TSH β or the TRH receptor gene, although the…”
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The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients by Gau, Maki, Konishi, Kaoru, Takasawa, Kei, Nakagawa, Ryuichi, Tsuji‐Hosokawa, Atsumi, Hashimoto, Atsuko, Sutani, Akito, Tajima, Toshihiro, Hasegawa, Tomonobu, Morio, Tomohiro, Kashimada, Kenichi

“…Background One of the major purposes of newborn screening for 21‐hydroxylase deficiency (21OHD) is preventing life‐threatening adrenal crisis. However, the…”
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Recent advances in research on isolated congenital central hypothyroidism by Tajima, Toshihiro, Nakamura, Akie, Oguma, Makiko, Yamazaki, Masayo

“…Congenital central hypothyroidism (C-CH) is caused by defects in the secretion of thyrotropin-releasing hormone (TRH) and/or TSH, leading to an impairment in…”
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Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision) by Ishii, Tomohiro, Kashimada, Kenichi, Amano, Naoko, Takasawa, Kei, Nakamura-Utsunomiya, Akari, Yatsuga, Shuichi, Mukai, Tokuo, Ida, Shinobu, Isobe, Mitsuhisa, Fukushi, Masaru, Satoh, Hiroyuki, Yoshino, Kaoru, Otsuki, Michio, Katabami, Takuyuki, Tajima, Toshihiro

“…Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital…”
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Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ by Batjargal, Khishigjargal, Tajima, Toshihiro, Fujita-Jimbo, Eriko, Yamaguchi, Takeshi, Nakamura, Akie, Yamagata, Takanori

“…Paired box transcription factor 8 (PAX8) is essential for thyroid organogenesis and development. Heterozygous pathogenic variants of PAX8 typically cause…”
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