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Ovarian dysgenesis 1(ODG1)

MedGen UID:
215397
Concept ID:
C0949595
Congenital Abnormality
Synonyms: 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
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): FSHR (2p16.3)
 
Monarch Initiative: MONDO:0024463
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

From HPO
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:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Increased circulating gonadotropin level
MedGen UID:
400008
Concept ID:
C1862265
Finding
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.

Term Hierarchy

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

Yavelberg S, Choudry O, Kashyap AK, Velazquez DM
Neoreviews 2020 Jan;21(1):e45-e48. doi: 10.1542/neo.21-1-e45. PMID: 31894082
Jha SK, Manandhar R, Shrivastava VR
JNMA J Nepal Med Assoc 2019 Mar-Apr;57(216):119-122. PMID: 31477946
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

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
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
Dede M, Gezginç K, Ulubay M, Alanbay I, Yenen M
Taiwan J Obstet Gynecol 2008 Mar;47(1):84-6. doi: 10.1016/S1028-4559(08)60060-1. PMID: 18400588

Prognosis

Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB
Clin Genet 2019 Jan;95(1):172-176. Epub 2018 Oct 28 doi: 10.1111/cge.13459. PMID: 30294972
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

Clinical prediction guides

Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH
Hum Genet 2020 Oct;139(10):1325-1343. Epub 2020 May 12 doi: 10.1007/s00439-020-02176-w. PMID: 32399598
Fekete B, Pentelényi K, Rudas G, Gál A, Grosz Z, Illés A, Idris J, Csukly G, Domonkos A, Molnar MJ
BMC Med Genet 2019 Dec 18;20(1):198. doi: 10.1186/s12881-019-0934-4. PMID: 31852434Free PMC Article
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
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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