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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.
See: Feature record | Search on this feature
Primary amenorrhea
MedGen UID:
115918
•Concept ID:
C0232939
•
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Increased circulating gonadotropin level
MedGen UID:
400008
•Concept ID:
C1862265
•
Finding
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Chromosome studies and fertility treatment in women with ovarian failure.
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

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
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
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937
46,XX sex reversal.
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
Abnormal sexual differentiation and neoplasia.
Verp MS, Simpson JL
Cancer Genet Cytogenet 1987 Apr;25(2):191-218. doi: 10.1016/0165-4608(87)90180-4. PMID: 3548944

Diagnosis

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.
Yavas Abalı Z, Guran T
Front Endocrinol (Lausanne) 2024;15:1354759. Epub 2024 May 15 doi: 10.3389/fendo.2024.1354759. PMID: 38812815Free PMC Article
Monogenic Forms of DSD: An Update.
McElreavey K, Bashamboo A
Horm Res Paediatr 2023;96(2):144-168. Epub 2021 Dec 28 doi: 10.1159/000521381. PMID: 34963118
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
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
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B, Achermann JC
Minerva Endocrinol 2010 Jun;35(2):73-86. PMID: 20595937

Therapy

Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.
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
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma.
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
Moving toward an understanding of hormone replacement therapy in adolescent girls: looking through the lens of Turner syndrome.
Davenport ML
Ann N Y Acad Sci 2008;1135:126-37. doi: 10.1196/annals.1429.031. PMID: 18574218
Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis.
Han TS, Goswami D, Trikudanathan S, Creighton SM, Conway GS
Eur J Endocrinol 2008 Aug;159(2):179-85. Epub 2008 May 7 doi: 10.1530/EJE-08-0166. PMID: 18463105

Prognosis

Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.
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
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype.
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
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
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
Gonadal dysgenesis.
McDonough PG, Byrd JR
Clin Obstet Gynecol 1977 Sep;20(3):565-79. doi: 10.1097/00003081-197709000-00007. PMID: 891055

Clinical prediction guides

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
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
Risk of gonadal neoplasia in patients with disorders/differences of sex development.
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
Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea.
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
46,XX sex reversal.
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
Gender verification in competitive sports.
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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