| H00607 | |
| H番号 | H00607 |
| 名称 | 46,XY 性腺形成不全症 |
| 概要 | Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial GD with presence of testicular tissue. The phenotype of patients with 46,XY GD can vary from normal female to genital ambiguity to an undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified. |
| カテゴリ | 生殖器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (SRXY1) SRY [HSA:6736] [KO:K09266] (SRXY2) NR0B1 [HSA:190] [KO:K08562] (SRXY3) NR5A1 [HSA:2516] [KO:K08560] (SRXY5) CBX2 [HSA:84733] [KO:K11451] (SRXY6) MAP3K1 [HSA:4214] [KO:K04416] (SRXY7) DHH [HSA:50846] [KO:K11990] (SRXY8) AKR1C2 [HSA:1646] [KO:K00089] (SRXY8) AKR1C4 [HSA:1109] [KO:K00037] (SRXY9) ZFPM2 [HSA:23414] [KO:K17442] (SRXY11) DHX37 [HSA:57647] [KO:K14780] (FS/DDS) WT1 [HSA:7490] [KO:K09234] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2A.1 ICD-10: Q99.1 MeSH: D006061 OMIM: 400044 300018 612965 613080 613762 233420 607080 614279 616067 273250 136680 194080 |
| 文献 | PMID:18279784 著者 Hughes IA タイトル Disorders of sex development: a new definition and classification. 雑誌 Best Pract Res Clin Endocrinol Metab 22:119-34 (2008) DOI:10.1016/j.beem.2007.11.001 PMID:25813279 著者 Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fekete C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R タイトル Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis. 雑誌 Fertil Steril 103:1297-304 (2015) DOI:10.1016/j.fertnstert.2015.01.043 PMID:31745530 (SRXY1_2_7_11) 著者 Buonocore F, Clifford-Mobley O, King TFJ, Striglioni N, Man E, Suntharalingham JP, Del Valle I, Lin L, Lagos CF, Rumsby G, Conway GS, Achermann JC タイトル Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. 雑誌 J Endocr Soc 3:2341-2360 (2019) DOI:10.1210/js.2019-00306 PMID:17503084 (SRXY2) 著者 Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P タイトル Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). 雑誌 Hum Genet 122:63-70 (2007) DOI:10.1007/s00439-007-0373-8 PMID:23918653 (SRXY3) 著者 Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA タイトル Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. 雑誌 Am J Med Genet A 161A:2487-94 (2013) DOI:10.1002/ajmg.a.36084 PMID:19361780 (SRXY5) 著者 Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ タイトル Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. 雑誌 Am J Hum Genet 84:658-63 (2009) DOI:10.1016/j.ajhg.2009.03.016 PMID:21129722 (SRXY6) 著者 Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, Brooks E, Oddoux C, Riley B, Shajahan S, Camerino G, Homfray T, Crosby AH, Couper J, David A, Greenfield A, Sinclair A, Ostrer H タイトル Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. 雑誌 Am J Hum Genet 87:898-904 (2010) DOI:10.1016/j.ajhg.2010.11.003 PMID:21802064 (SRXY8) 著者 Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, Schoenle EJ, Biason-Lauber A タイトル Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. 雑誌 Am J Hum Genet 89:201-18 (2011) DOI:10.1016/j.ajhg.2011.06.009 PMID:24549039 (SRXY9) 著者 Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, Lourenco D, Guffanti A, McElreavey K タイトル Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. 雑誌 Hum Mol Genet 23:3657-65 (2014) DOI:10.1093/hmg/ddu074 PMID:9398852 (FS) 著者 Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K タイトル Donor splice-site mutations in WT1 are responsible for Frasier syndrome. 雑誌 Nat Genet 17:467-70 (1997) DOI:10.1038/ng1297-467 PMID:18203154 (DDS) 著者 Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A タイトル Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097GA(Arg366His) mutation. 雑誌 Am J Med Genet A 146A:496-9 (2008) DOI:10.1002/ajmg.a.32168 |