| H00607 | |
| H number | H00607 |
| Name | 46,XY gonadal dysgenesis |
| Description | 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. |
| Category | Reproductive system disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2A.1 ICD-10: Q99.1 MeSH: D006061 OMIM: 400044 300018 612965 613080 613762 233420 607080 614279 616067 273250 136680 194080 |
| Reference | PMID:18279784 AUTHORS Hughes IA TITLE Disorders of sex development: a new definition and classification. JOURNAL Best Pract Res Clin Endocrinol Metab 22:119-34 (2008) DOI:10.1016/j.beem.2007.11.001 PMID:25813279 AUTHORS Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fekete C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R TITLE Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis. JOURNAL Fertil Steril 103:1297-304 (2015) DOI:10.1016/j.fertnstert.2015.01.043 PMID:31745530 (SRXY1_2_7_11) AUTHORS 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 TITLE Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. JOURNAL J Endocr Soc 3:2341-2360 (2019) DOI:10.1210/js.2019-00306 PMID:17503084 (SRXY2) AUTHORS Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P TITLE Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). JOURNAL Hum Genet 122:63-70 (2007) DOI:10.1007/s00439-007-0373-8 PMID:23918653 (SRXY3) AUTHORS Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA TITLE Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. JOURNAL Am J Med Genet A 161A:2487-94 (2013) DOI:10.1002/ajmg.a.36084 PMID:19361780 (SRXY5) AUTHORS Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ TITLE Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. JOURNAL Am J Hum Genet 84:658-63 (2009) DOI:10.1016/j.ajhg.2009.03.016 PMID:21129722 (SRXY6) AUTHORS 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 TITLE Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. JOURNAL Am J Hum Genet 87:898-904 (2010) DOI:10.1016/j.ajhg.2010.11.003 PMID:21802064 (SRXY8) AUTHORS Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, Schoenle EJ, Biason-Lauber A TITLE Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. JOURNAL Am J Hum Genet 89:201-18 (2011) DOI:10.1016/j.ajhg.2011.06.009 PMID:24549039 (SRXY9) AUTHORS Bashamboo A, Brauner R, Bignon-Topalovic J, Lortat-Jacob S, Karageorgou V, Lourenco D, Guffanti A, McElreavey K TITLE Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. JOURNAL Hum Mol Genet 23:3657-65 (2014) DOI:10.1093/hmg/ddu074 PMID:9398852 (FS) AUTHORS Barbaux S, Niaudet P, Gubler MC, Grunfeld JP, Jaubert F, Kuttenn F, Fekete CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K TITLE Donor splice-site mutations in WT1 are responsible for Frasier syndrome. JOURNAL Nat Genet 17:467-70 (1997) DOI:10.1038/ng1297-467 PMID:18203154 (DDS) AUTHORS Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A TITLE Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097GA(Arg366His) mutation. JOURNAL Am J Med Genet A 146A:496-9 (2008) DOI:10.1002/ajmg.a.32168 |