KEGG   DISEASE: 46,XX gonadal dysgenesis
Entry
H00599                      Disease                                

Name
46,XX gonadal dysgenesis;
Ovarian dysgenesis
Description
46,XX gonadal dysgenesis, also known as ovarian dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.
Category
Reproductive system disease
Brite
Human diseases [BR:br08402]
 Reproductive system diseases
  Reproductive system diseases
   H00599  46,XX gonadal dysgenesis
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the female genital system
    LB45  Structural developmental anomalies of ovaries, fallopian tubes or broad ligaments
     H00599  46,XX gonadal dysgenesis
Pathway
hsa04913 Ovarian steroidogenesis   
Gene
(ODG1) FSHR [HSA:2492] [KO:K04247]
(ODG2) BMP15 [HSA:9210] [KO:K05498]
(ODG3) PSMC3IP [HSA:29893] [KO:K06695]
(ODG4) MCM9 [HSA:254394] [KO:K10738]
Other DBs
ICD-11: LB45.1
ICD-10: Q99.1
MeSH: D023961
OMIM: 233300 300510 614324 616185
Reference
  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
Reference
  Authors
Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomaki K
  Title
A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure.
  Journal
J Clin Endocrinol Metab 87:1151-5 (2002)
DOI:10.1210/jcem.87.3.8319
Reference
  Authors
Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E
  Title
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
  Journal
Am J Hum Genet 89:572-9 (2011)
DOI:10.1016/j.ajhg.2011.09.006
Reference
  Authors
Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RA
  Title
A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.
  Journal
Clin Genet 89:603-7 (2016)
DOI:10.1111/cge.12736

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