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Ovarian dysgenesis 1(ODG1)

MedGen UID:
215397
Concept ID:
C0949595
Congenital Abnormality
Synonyms: Gonadal dysgenesis XX type deafness; Gonadal dysgenesis, XX type; ODG1; OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE; OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE; OVARIAN FAILURE, HYPERGONADOTROPIC
 
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); ODG8 (618187), caused by mutation in the ESR2 gene (601663); ODG9 (619665), caused by mutation in the SPIDR gene (615384); and ODG10 (619834), caused by mutation in the ZSWIM7 gene (614535). 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.
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.

Recent clinical studies

Etiology

Costanzo M, Touzon MS, Marino R, Guercio G, Ramirez P, Mattone MC, Pérez Garrido N, Bailez MM, Vaiani E, Ciaccio M, Galluzzo Mutti ML, Belgorosky A, Berensztein E
Eur J Endocrinol 2022 Sep 1;187(3):451-462. Epub 2022 Jul 29 doi: 10.1530/EJE-22-0283. PMID: 35900314
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

Diagnosis

Costanzo M, Touzon MS, Marino R, Guercio G, Ramirez P, Mattone MC, Pérez Garrido N, Bailez MM, Vaiani E, Ciaccio M, Galluzzo Mutti ML, Belgorosky A, Berensztein E
Eur J Endocrinol 2022 Sep 1;187(3):451-462. Epub 2022 Jul 29 doi: 10.1530/EJE-22-0283. PMID: 35900314
Altunoglu U, Börklü E, Shukla A, Escande-Beillard N, Ledig S, Azaklı H, Nayak SS, Eraslan S, Girisha KM, Kennerknecht I, Kayserili H
Clin Genet 2022 Feb;101(2):221-232. Epub 2021 Nov 17 doi: 10.1111/cge.14086. PMID: 34750818
Opdecam L, Barudy Vasquez J, Camerlinck M, Makar A
J Obstet Gynaecol 2021 Oct;41(7):1164-1165. Epub 2020 Oct 15 doi: 10.1080/01443615.2020.1798908. PMID: 33054466
Jha SK, Manandhar R, Shrivastava VR
JNMA J Nepal Med Assoc 2019 Mar-Apr;57(216):119-122. PMID: 31477946Free PMC Article
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
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

Souissi A, Ben Said M, Frikha F, Elloumi I, Masmoudi S, Megarbane A
Genet Test Mol Biomarkers 2021 Aug;25(8):528-539. doi: 10.1089/gtmb.2021.0092. PMID: 34406847
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

Souissi A, Ben Said M, Frikha F, Elloumi I, Masmoudi S, Megarbane A
Genet Test Mol Biomarkers 2021 Aug;25(8):528-539. doi: 10.1089/gtmb.2021.0092. PMID: 34406847
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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