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Ovarian dysgenesis 11(ODG11)

MedGen UID:
1856331
Concept ID:
C5935637
Disease or Syndrome
Synonyms: ODG11; OVARIAN DYSGENESIS 11
 
Gene (location): HROB (17q21.31)
 
Monarch Initiative: MONDO:0971176
OMIM®: 620897

Definition

Ovarian dysgenesis-11 (ODG11) is characterized by primary amenorrhea and delayed puberty, with absent ovaries on pelvic ultrasound (Tucker et al., 2022; Wu et al., 2023). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). [from OMIM]

Clinical features

From HPO
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Aplasia of the ovary
MedGen UID:
452348
Concept ID:
C0266368
Congenital Abnormality
Aplasia, that is failure to develop, of the ovary.
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Decreased serum estradiol
MedGen UID:
69129
Concept ID:
C0241011
Finding
A reduction below normal concentration of estradiol in the circulation.
Delayed menarche
MedGen UID:
184929
Concept ID:
C0949173
Disease or Syndrome
First period after the age of 15 years.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level
MedGen UID:
868698
Concept ID:
C4023101
Finding
An elevated concentration of luteinizing hormone in the blood.
Decreased circulating antimullerian hormone circulation
MedGen UID:
1391876
Concept ID:
C4476972
Finding
A reduction below the normal range of the antimullerian hormone in the circulation.

Professional guidelines

PubMed

Tso LO, Costello MF, Albuquerque LET, Andriolo RB, Macedo CR
Cochrane Database Syst Rev 2020 Dec 21;12(12):CD006105. doi: 10.1002/14651858.CD006105.pub4. PMID: 33347618Free PMC Article
Livadas S, Stratakis CA, Macut D
Front Endocrinol (Lausanne) 2020;11:170. Epub 2020 Mar 31 doi: 10.3389/fendo.2020.00170. PMID: 32296393Free PMC Article
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855

Recent clinical studies

Etiology

Stener-Victorin E, Teede H, Norman RJ, Legro R, Goodarzi MO, Dokras A, Laven J, Hoeger K, Piltonen TT
Nat Rev Dis Primers 2024 Apr 18;10(1):27. doi: 10.1038/s41572-024-00511-3. PMID: 38637590
Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Tso LO, Costello MF, Albuquerque LET, Andriolo RB, Macedo CR
Cochrane Database Syst Rev 2020 Dec 21;12(12):CD006105. doi: 10.1002/14651858.CD006105.pub4. PMID: 33347618Free PMC Article
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855
Flanders TY, Foulkes WD
J Med Genet 1996 Nov;33(11):889-98. doi: 10.1136/jmg.33.11.889. PMID: 8950667Free PMC Article

Diagnosis

Stener-Victorin E, Teede H, Norman RJ, Legro R, Goodarzi MO, Dokras A, Laven J, Hoeger K, Piltonen TT
Nat Rev Dis Primers 2024 Apr 18;10(1):27. doi: 10.1038/s41572-024-00511-3. PMID: 38637590
Wang K, Li Y, Chen Y
Front Endocrinol (Lausanne) 2023;14:1273542. Epub 2023 Dec 13 doi: 10.3389/fendo.2023.1273542. PMID: 38152131Free PMC Article
Shrivastava S, Conigliaro RL
Med Clin North Am 2023 Mar;107(2):227-234. Epub 2022 Dec 26 doi: 10.1016/j.mcna.2022.10.004. PMID: 36759093
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Ortiz-Flores AE, Luque-Ramírez M, Escobar-Morreale HF
Med Clin (Barc) 2019 Jun 7;152(11):450-457. Epub 2019 Jan 4 doi: 10.1016/j.medcli.2018.11.019. PMID: 30616916

Therapy

Liu Y, Jiang JJ, Du SY, Mu LS, Fan JJ, Hu JC, Ye Y, Ding M, Zhou WY, Yu QH, Xia YF, Xu HY, Shi YJ, Qian SW, Tang Y, Li W, Dang YJ, Dong X, Li XY, Xu CJ, Tang QQ
Science 2024 Jun 14;384(6701):eadk5382. doi: 10.1126/science.adk5382. PMID: 38870290
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Tso LO, Costello MF, Albuquerque LET, Andriolo RB, Macedo CR
Cochrane Database Syst Rev 2020 Dec 21;12(12):CD006105. doi: 10.1002/14651858.CD006105.pub4. PMID: 33347618Free PMC Article
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855

Prognosis

Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Livadas S, Stratakis CA, Macut D
Front Endocrinol (Lausanne) 2020;11:170. Epub 2020 Mar 31 doi: 10.3389/fendo.2020.00170. PMID: 32296393Free PMC Article
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855
Zelaya G, López Marti JM, Marino R, Garcia de Dávila MT, Gallego MS
Pediatr Dev Pathol 2015 Mar-Apr;18(2):117-21. Epub 2014 Dec 23 doi: 10.2350/14-08-1539-OA.1. PMID: 25535833
Flanders TY, Foulkes WD
J Med Genet 1996 Nov;33(11):889-98. doi: 10.1136/jmg.33.11.889. PMID: 8950667Free PMC Article

Clinical prediction guides

Witchel SF, Azziz R, Oberfield SE
Horm Res Paediatr 2022;95(6):557-567. Epub 2022 Nov 29 doi: 10.1159/000526722. PMID: 36446329
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855
Raghu P, Tran TA, Rady P, Tyring S, Carlson JA
Am J Dermatopathol 2012 Oct;34(7):e97-102. doi: 10.1097/DAD.0b013e3182562526. PMID: 22699864
Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E
Hum Mutat 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819. PMID: 18642388
Hasle H, Olsen JH, Nielsen J, Hansen J, Friedrich U, Tommerup N
Br J Cancer 1996 May;73(9):1156-9. doi: 10.1038/bjc.1996.222. PMID: 8624281Free PMC Article

Recent systematic reviews

Liu Y, Li Z, Dou Y, Wang J, Li Y
Arch Gynecol Obstet 2023 Nov;308(5):1409-1417. Epub 2023 Feb 24 doi: 10.1007/s00404-022-06856-y. PMID: 36823415
Tsukui Y, Kitahara Y, Hasegawa Y, Kobayashi M, Osuka S, Iwase A
Endocr J 2022 Aug 29;69(8):897-906. Epub 2022 Jun 8 doi: 10.1507/endocrj.EJ22-0081. PMID: 35675999
Tso LO, Costello MF, Albuquerque LET, Andriolo RB, Macedo CR
Cochrane Database Syst Rev 2020 Dec 21;12(12):CD006105. doi: 10.1002/14651858.CD006105.pub4. PMID: 33347618Free PMC Article
Dabrowski E, Jensen R, Johnson EK, Habiby RL, Brickman WJ, Finlayson C
Horm Res Paediatr 2019;92(3):143-149. Epub 2020 Jan 9 doi: 10.1159/000502902. PMID: 31918426
Chaabane S, Sheehy O, Monnier P, Fraser W, Bissonnette F, Trasler JM, Muanda FT, Boukhris T, Karam F, Santos F, Blais L, Bérard A
Curr Drug Saf 2016;11(3):222-61. doi: 10.2174/1574886311666160627094051. PMID: 27484228

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