KEGG   DISEASE: Ovarian dysgenesis
Entry
H00599                      Disease                                

Name
Ovarian dysgenesis;
46,XX gonadal dysgenesis
Description
Ovarian dysgenesis (ODG), also known as 46,XX gonadal 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  Ovarian 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  Ovarian 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]
(ODG5) SOHLH1 [HSA:402381] [KO:K22495]
(ODG6) NUP107 [HSA:57122] [KO:K14301]
(ODG7) MRPS22 [HSA:56945] [KO:K17401]
(ODG8) ESR2 [HSA:2100] [KO:K08551]
Other DBs
ICD-11: LB45.1
ICD-10: Q99.1
MeSH: D023961
OMIM: 233300 300510 614324 616185 617690 618078 618117 618187
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
Reference
  Authors
Bayram Y, Gulsuner S, Guran T, Abaci A, Yesil G, Gulsuner HU, Atay Z, Pierce SB, Gambin T, Lee M, Turan S, Bober E, Atik MM, Walsh T, Karaca E, Pehlivan D, Jhangiani SN, Muzny D, Bereket A, Buyukgebiz A, Boerwinkle E, Gibbs RA, King MC, Lupski JR
  Title
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
  Journal
J Clin Endocrinol Metab 100:E808-14 (2015)
DOI:10.1210/jc.2015-1150
Reference
  Authors
Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D
  Title
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
  Journal
J Clin Invest 125:4295-304 (2015)
DOI:10.1172/JCI83553
Reference
  Authors
Chen A, Tiosano D, Guran T, Baris HN, Bayram Y, Mory A, Shapiro-Kulnane L, Hodges CA, Akdemir ZC, Turan S, Jhangiani SN, van den Akker F, Hoppel CL, Salz HK, Lupski JR, Buchner DA
  Title
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
  Journal
Hum Mol Genet 27:1913-1926 (2018)
DOI:10.1093/hmg/ddy098
Reference
  Authors
Lang-Muritano M, Sproll P, Wyss S, Kolly A, Hurlimann R, Konrad D, Biason-Lauber A
  Title
Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor beta (ESR2).
  Journal
J Clin Endocrinol Metab 103:3748-3756 (2018)
DOI:10.1210/jc.2018-00769
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