Výsledky vyhledávání - "Ayuko S. Suwanai"

Characteristic Testicular Histology Is Useful for the Identification of NR5A1 Gene Mutations in Prepubertal 46,XY Patients

Autor: Ayuko S. Suwanai, Yukihiro Hasegawa, Ryuji Fukuzawa, Chikahiko Numakura, Tomonobu Hasegawa, Noriko Nishina-Uchida

Publikováno v: Hormone Research in Paediatrics. 80:119-128

Background: Individuals with NR5A1 mutations encoding steroidogenic factor-1 (SF1) develop a phenotypically broad range of disorders of sexual development (DSD). Based on a literature review, we noted that hypoplastic seminiferous tubules and the eme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce0680f7d5a900a304e3802c15949440
https://doi.org/10.1159/000353763

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Association between monoallelic

Autor: Kiyomi, Abe, Satoshi, Narumi, Ayuko S, Suwanai, Masanori, Adachi, Koji, Muroya, Yumi, Asakura, Keisuke, Nagasaki, Takayuki, Abe, Tomonobu, Hasegawa

Publikováno v: European journal of endocrinology. 178(2)

BiallelicWe enrolled 395 patients that had a positive result in NBS and sequencedTwenty-six monoallelicMonoallelic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7798b27f0b8c842d58913f18e8e8c2d1
https://pubmed.ncbi.nlm.nih.gov/29092890

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The Effect of Intramuscular Testosterone Enanthate Treatment on Stretched Penile Length in Prepubertal Boys With Hypospadias

Autor: Naoko Amano, Tomonobu Hasegawa, Ayuko S. Suwanai, Mie Hayashi, Tomohiro Ishii

Publikováno v: Urology. 76:97-100

Objectives To define the responses of stretched penile length (PL) to intramuscular testosterone enanthate (TE) treatment in prepubertal boys with hypospadias. Methods We examined 17 Japanese boys with hypospadias at 1.4 ± 1.3 (mean ± SD) years of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d555397d1155349e821411b010e28f5
https://doi.org/10.1016/j.urology.2009.12.065

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Pseudodominant inheritance in a family with nonautoimmune hypothyroidism due to biallelic DUOX2 mutations

Autor: Takashi Hamajima, Satoshi Narumi, Ayuko S. Suwanai, Kiyomi Abe, Tomonobu Hasegawa

Publikováno v: Clinical endocrinology. 83(3)

Objectives Mutations in the dual oxidase 2 gene (DUOX2) is the most common genetic cause of congenital hypothyroidism (CH) in Japan. All previously described DUOX2 mutation-carrying families have followed autosomal recessive inheritance. We report a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f7640d2703f25aa50dea85a3f1bba9f
https://pubmed.ncbi.nlm.nih.gov/25263060

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A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression

Autor: Tomonobu Hasegawa, Satoshi Narumi, Tsutomu Ogata, Ayuko S. Suwanai, Atsuyuki Yamataka, Hidenori Haruna, Tomohiro Ishii, Ryuji Fukuzawa

Publikováno v: Clinical endocrinology. 78(6)

SummaryObjective NR5A1 or steroidogenic factor 1 is a nuclear receptor that plays important roles in the hypothalamus–pituitary–steroidogenic axis. The clinical phenotype of most 46,XY mutation carriers includes disorders of sex development (DSD)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd37880f5ef632c5500a2d3fceecde96
https://pubmed.ncbi.nlm.nih.gov/23095176

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