Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone β-subunit gene promoter activity
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- OKUHARA Koji
- Department of Pediatrics, Hokkaido University School of Medicine
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- ABE Shuji
- Department of Pediatrics, Hokkaido University School of Medicine
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- KONDO Takuma
- Kondo Pediatric Clinic
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- FUJITA Keinosuke
- Division of Endocrinology and Metabolism
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- KODA Noya
- Division of Endocrinology and Metabolism, Saitama Children's Medical Center
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- MOCHIZUKI Hiroshi
- Division of Endocrinology and Metabolism, Saitama Children's Medical Center
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- FUJIEDA Kenji
- Department of Pediatrics, Asahikawa Medical College
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- TAJIMA Toshihiro
- Department of Pediatrics, Hokkaido University School of Medicine
書誌事項
- タイトル別名
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- Four Japanese Patients with Adrenal Hypoplasia Congenita and Hypogonadotropic Hypogonadism Caused by DAX-1 Gene Mutations: Mutant DAX-1 Failed to Repress Steroidogenic Acute Regulatory Protein (StAR) and Luteinizing Hormone .BETA.-subunit Gene Promoter Activity
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抄録
Mutations of DSS (dosage sensitive sex reversal)-AHC critical region on the X chromosome, gene 1 DAX-1(NROB1)] results in X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). Here we report four Japanese patients with AHC and HHG caused by the mutations of the DAX-1 gene. All patients manifested adrenal crisis at early childhood. Three patients did not show any pubertal sign and were diagnosed as having HHG. One patient manifested spontaneous pubertal development at 17 years of age. Nevertheless, his puberty did not develop further and his gonadotropin and testosterone levels decreased thereafter. Therefore, he was also diagnosed as having HHG. We performed testicular biopsy in another patient with HHG. Histological examination demonstrated Sertoli cell hypoplasia and no sperm formation in the seminiferous tubules. Molecular analysis demonstrated two novel point mutations (V269D and L278R) in two patients. Transient transfection assays showed that all these mutations (V269D, L271X, L278R, and Q395X) abolished the repression activity to both StAR and LHβ gene promoter activation. In conclusion, we reported patients with AHC and HHG caused by the loss of function mutations of the DAX-1 gene.<br>
収録刊行物
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- Endocrine Journal
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Endocrine Journal 55 (1), 97-103, 2008
一般社団法人 日本内分泌学会
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詳細情報 詳細情報について
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- CRID
- 1390282681275662592
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- NII論文ID
- 10021264669
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- NII書誌ID
- AA10901436
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- ISSN
- 13484540
- 09188959
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- CiNii Articles
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- 使用不可