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Ovarian dysgenesis 1(ODG1)

MedGen UID:
215397
Concept ID:
C0949595
Congenital Abnormality
Synonyms: GONADAL DYSGENESIS, XX TYPE; ODG1; OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE; OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE; OVARIAN FAILURE, HYPERGONADOTROPIC
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): FSHR (2p16.3)
OMIM®: 233300

Definition

Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Genetic Heterogeneity of Ovarian Dysgenesis Even in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 (300510), caused by mutation in the BMP15 gene (300247); ODG3 (614324), caused by mutation in the PSMC3IP gene (608665); ODG4 (616185), caused by mutation in the MCMDC1 gene (610098); ODG5 (617690), caused by mutation in the SOHLH1 gene (610224); ODG6 (618078), caused by mutation in the NUP107 gene (607617); ODG7 (618117), caused by mutation in the MRPS22 gene (605810); and ODG8 (618187), caused by mutation in the ESR2 gene (601663). See also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome (233400). [from OMIM]

Clinical features

Gonadal dysgenesis
MedGen UID:
9075
Concept ID:
C0018051
Congenital Abnormality
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Increased circulating gonadotropin level
MedGen UID:
400008
Concept ID:
C1862265
Finding
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
Osteoporosis
MedGen UID:
776590
Concept ID:
C2911643
Finding
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Increased circulating gonadotropin level
MedGen UID:
400008
Concept ID:
C1862265
Finding
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.

Recent clinical studies

Etiology

Kosaki R, Horikawa R, Fujii E, Kosaki K
Am J Med Genet A 2018 Feb;176(2):404-408. Epub 2017 Dec 3 doi: 10.1002/ajmg.a.38552. PMID: 29205794
Engberg H, Strandqvist A, Nordenström A, Butwicka A, Nordenskjöld A, Hirschberg AL, Frisén L
J Psychosom Res 2017 Oct;101:122-127. Epub 2017 Aug 8 doi: 10.1016/j.jpsychores.2017.08.009. PMID: 28867417
Wong YS, Tam YH, Pang KKY, To KF, Chan SSC, Chan KW, Lee KH
J Pediatr Urol 2017 Oct;13(5):508.e1-508.e6. Epub 2017 Apr 10 doi: 10.1016/j.jpurol.2017.03.021. PMID: 28434637
Huang H, Wang CQ, Tian QJ
Gynecol Endocrinol 2016 Dec;32(12):995-998. Epub 2016 Jun 2 doi: 10.1080/09513590.2016.1190820. PMID: 27250571
Ocal G, Berberoğlu M, Sıklar Z, Ruhi HI, Tükün A, Camtosun E, Savaş Erdeve S, Hacıhamdioğlu B, Fitöz S
Eur J Pediatr 2012 Oct;171(10):1497-502. Epub 2012 May 30 doi: 10.1007/s00431-012-1754-0. PMID: 22644991

Diagnosis

Engberg H, Strandqvist A, Nordenström A, Butwicka A, Nordenskjöld A, Hirschberg AL, Frisén L
J Psychosom Res 2017 Oct;101:122-127. Epub 2017 Aug 8 doi: 10.1016/j.jpsychores.2017.08.009. PMID: 28867417
Wong YS, Tam YH, Pang KKY, To KF, Chan SSC, Chan KW, Lee KH
J Pediatr Urol 2017 Oct;13(5):508.e1-508.e6. Epub 2017 Apr 10 doi: 10.1016/j.jpurol.2017.03.021. PMID: 28434637
Huang H, Wang CQ, Tian QJ
Gynecol Endocrinol 2016 Dec;32(12):995-998. Epub 2016 Jun 2 doi: 10.1080/09513590.2016.1190820. PMID: 27250571
Xiao B, Ji X, Xing Y, Chen YW, Tao J
Eur J Med Genet 2013 Dec;56(12):695-8. Epub 2013 Oct 18 doi: 10.1016/j.ejmg.2013.10.001. PMID: 24140641
Kousta E, Papathanasiou A, Skordis N
Hormones (Athens) 2010 Jul-Sep;9(3):218-131. doi: 10.14310/horm.2002.1272. PMID: 20688619

Therapy

Huang H, Wang CQ, Tian QJ
Gynecol Endocrinol 2016 Dec;32(12):995-998. Epub 2016 Jun 2 doi: 10.1080/09513590.2016.1190820. PMID: 27250571
Kristesashvili J, Chipashvili M, Jorbenadze T, Greydanus DE
Int J Adolesc Med Health 2012;24(2):181-90. Epub 2011 Nov 29 doi: 10.1515/ijamh.2012.027. PMID: 22909928
Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A
Horm Res Paediatr 2012;78(2):119-26. Epub 2012 Aug 14 doi: 10.1159/000338346. PMID: 22907560
Velasco G, Savarese V, Sandorfi N, Jimenez SA, Jabbour S
Endocr Pract 2011 Jan-Feb;17(1):95-8. doi: 10.4158/EP10184.CR. PMID: 20841307
Minor A, Mohammed F, Farouk A, Hatakeyama C, Johnson K, Chow V, Ma S
J Assist Reprod Genet 2008 Nov-Dec;25(11-12):547-52. Epub 2008 Oct 30 doi: 10.1007/s10815-008-9265-7. PMID: 18972202Free PMC Article

Prognosis

Wong YS, Tam YH, Pang KKY, To KF, Chan SSC, Chan KW, Lee KH
J Pediatr Urol 2017 Oct;13(5):508.e1-508.e6. Epub 2017 Apr 10 doi: 10.1016/j.jpurol.2017.03.021. PMID: 28434637
Narayanan VK, Kharbanda M, Donaldson M
J Pediatr Endocrinol Metab 2016 Dec 1;29(12):1407-1412. doi: 10.1515/jpem-2016-0182. PMID: 27824615
Kristesashvili J, Chipashvili M, Jorbenadze T, Greydanus DE
Int J Adolesc Med Health 2012;24(2):181-90. Epub 2011 Nov 29 doi: 10.1515/ijamh.2012.027. PMID: 22909928
Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A
Horm Res Paediatr 2012;78(2):119-26. Epub 2012 Aug 14 doi: 10.1159/000338346. PMID: 22907560
Siklar Z, Berberoğlu M, Adiyaman P, Salih M, Tükün A, Cetinkaya E, Aycan Z, Evliyaoğlu O, Ergur AT, Oçal G
Pediatr Endocrinol Rev 2007 Mar;4(3):210-7. PMID: 17551482

Clinical prediction guides

Narayanan VK, Kharbanda M, Donaldson M
J Pediatr Endocrinol Metab 2016 Dec 1;29(12):1407-1412. doi: 10.1515/jpem-2016-0182. PMID: 27824615
Huang H, Wang CQ, Tian QJ
Gynecol Endocrinol 2016 Dec;32(12):995-998. Epub 2016 Jun 2 doi: 10.1080/09513590.2016.1190820. PMID: 27250571
Gao X, Chen G, Huang J, Bai Q, Zhao N, Shao M, Jiao L, Wei Y, Chang L, Li D, Yang L
J Assist Reprod Genet 2013 Mar;30(3):431-5. Epub 2013 Feb 3 doi: 10.1007/s10815-013-9939-7. PMID: 23378127Free PMC Article
Guaragna-Filho G, Castro CC, Carvalho RR, Coeli FB, Ferraz LF, Petroli RJ, Mello MP, Sewaybricker LE, Lemos-Marini SH, D'Souza-Li LF, Miranda ML, Maciel-Guerra AT, Guerra-Junior G
Arq Bras Endocrinol Metabol 2012 Nov;56(8):578-85. PMID: 23295302
Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A
Horm Res Paediatr 2012;78(2):119-26. Epub 2012 Aug 14 doi: 10.1159/000338346. PMID: 22907560

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