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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); ODG10 (619834), caused by mutation in the ZSWIM7 gene (614535); and ODG11 (620897), caused by mutation in the HROB gene (618611). 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.

Professional guidelines

PubMed

Hens L, Devroey P, Van Waesberghe L, Bonduelle M, Van Steirteghem AC, Liebaers I
Clin Genet 1989 Aug;36(2):81-91. doi: 10.1111/j.1399-0004.1989.tb03169.x. PMID: 2766572

Recent clinical studies

Etiology

Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J
Orphanet J Rare Dis 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. PMID: 35821070Free PMC Article
Rodriguez-Buritica D
Curr Opin Pediatr 2015 Dec;27(6):675-84. doi: 10.1097/MOP.0000000000000275. PMID: 26335769
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937
Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP
Arch Med Res 2001 Nov-Dec;32(6):559-66. doi: 10.1016/s0188-4409(01)00322-8. PMID: 11750731

Diagnosis

McElreavey K, Bashamboo A
Horm Res Paediatr 2023;96(2):144-168. Epub 2021 Dec 28 doi: 10.1159/000521381. PMID: 34963118
Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J
Orphanet J Rare Dis 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. PMID: 35821070Free PMC Article
Josso N, Rey RA
Front Endocrinol (Lausanne) 2020;11:619. Epub 2020 Sep 8 doi: 10.3389/fendo.2020.00619. PMID: 33013698Free PMC Article
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Berkovitz GD, Seeherunvong T
Baillieres Clin Endocrinol Metab 1998 Apr;12(1):133-42. doi: 10.1016/s0950-351x(98)80512-0. PMID: 9890065

Therapy

García-Acero M, Moreno-Niño O, Suárez-Obando F, Molina M, Manotas MC, Prieto JC, Forero C, Céspedes C, Pérez J, Fernandez N, Rojas A
Mol Med Rep 2020 Jan;21(1):97-106. Epub 2019 Nov 12 doi: 10.3892/mmr.2019.10819. PMID: 31746433Free PMC Article
Bernabé KJ, Nokoff NJ, Galan D, Felsen D, Aston CE, Austin P, Baskin L, Chan YM, Cheng EY, Diamond DA, Ellens R, Fried A, Greenfield S, Kolon T, Kropp B, Lakshmanan Y, Meyer S, Meyer T, Delozier AM, Mullins LL, Palmer B, Paradis A, Reddy P, Reyes KJS, Schulte M, Swartz JM, Yerkes E, Wolfe-Christensen C, Wisniewski AB, Poppas DP
J Pediatr Urol 2018 Apr;14(2):157.e1-157.e8. Epub 2018 Feb 2 doi: 10.1016/j.jpurol.2017.11.019. PMID: 29398588Free 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
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Davenport ML
Ann N Y Acad Sci 2008;1135:126-37. doi: 10.1196/annals.1429.031. PMID: 18574218

Prognosis

Kapil I, Anand R, Padhi P
BMJ Case Rep 2024 Mar 29;17(3) doi: 10.1136/bcr-2023-258204. PMID: 38553020Free PMC Article
Gündoğdu E, Emekli E, Oğuzman M, Kebapçı M
J Pediatr Endocrinol Metab 2019 Sep 25;32(9):995-1003. doi: 10.1515/jpem-2019-0223. PMID: 31369396
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
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
McDonough PG, Byrd JR
Clin Obstet Gynecol 1977 Sep;20(3):565-79. doi: 10.1097/00003081-197709000-00007. PMID: 891055

Clinical prediction guides

Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J
Orphanet J Rare Dis 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. PMID: 35821070Free PMC Article
Slowikowska-Hilczer J, Szarras-Czapnik M, Duranteau L, Rapp M, Walczak-Jedrzejowska R, Marchlewska K, Oszukowska E, Nordenstrom A; dsd-LIFE group
Cancer Epidemiol 2020 Dec;69:101800. Epub 2020 Sep 6 doi: 10.1016/j.canep.2020.101800. PMID: 32905884
Dessens AB, Slijper FM, Drop SL
Arch Sex Behav 2005 Aug;34(4):389-97. doi: 10.1007/s10508-005-4338-5. PMID: 16010462
Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP
Arch Med Res 2001 Nov-Dec;32(6):559-66. doi: 10.1016/s0188-4409(01)00322-8. PMID: 11750731
Simpson JL, Ljungqvist A, de la Chapelle A, Ferguson-Smith MA, Genel M, Carlson AS, Ehrhardt AA, Ferris E
Sports Med 1993 Nov;16(5):305-15. doi: 10.2165/00007256-199316050-00002. PMID: 8272686

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