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Ovarian dysgenesis 3(ODG3)

MedGen UID:
482101
Concept ID:
C3280471
Disease or Syndrome
Synonym: ODG3
 
Gene (location): PSMC3IP (17q21.2)
 
Monarch Initiative: MONDO:0013689
OMIM®: 614324

Definition

Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene. [from MONDO]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
Concept ID:
C0021361
Pathologic Function
Infertility in a woman.
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.
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.

Professional guidelines

PubMed

Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
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

Recent clinical studies

Etiology

Moro F, Bolomini G, Sibal M, Vijayaraghavan SB, Venkatesh P, Nardelli F, Pasciuto T, Mascilini F, Pozzati F, Leone FPG, Josefsson H, Epstein E, Guerriero S, Scambia G, Valentin L, Testa AC
Ultrasound Obstet Gynecol 2020 Dec;56(6):934-943. Epub 2020 Nov 10 doi: 10.1002/uog.21981. PMID: 31975482
Azziz R
Obstet Gynecol 2018 Aug;132(2):321-336. doi: 10.1097/AOG.0000000000002698. PMID: 29995717
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
Endocr Pract 2015 Dec;21(12):1415-26. doi: 10.4158/EP15748.DSCPT2. PMID: 26642102
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
Lakhoo K
Early Hum Dev 2010 Oct;86(10):643-7. Epub 2010 Sep 29 doi: 10.1016/j.earlhumdev.2010.08.016. PMID: 20884137

Diagnosis

Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Reches A
Methods Mol Biol 2019;1942:3-10. doi: 10.1007/978-1-4939-9080-1_1. PMID: 30900171
Richard-Eaglin A
Nurs Clin North Am 2018 Sep;53(3):395-405. doi: 10.1016/j.cnur.2018.04.006. PMID: 30100005
Azziz R
Obstet Gynecol 2018 Aug;132(2):321-336. doi: 10.1097/AOG.0000000000002698. PMID: 29995717
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

Therapy

Wang K, Li Y
Front Endocrinol (Lausanne) 2023;14:1191759. Epub 2023 Oct 19 doi: 10.3389/fendo.2023.1191759. PMID: 37929034Free PMC Article
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Fraser GL, Obermayer-Pietsch B, Laven J, Griesinger G, Pintiaux A, Timmerman D, Fauser BCJM, Lademacher C, Combalbert J, Hoveyda HR, Ramael S
J Clin Endocrinol Metab 2021 Aug 18;106(9):e3519-e3532. doi: 10.1210/clinem/dgab320. PMID: 34000049Free 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
Endocr Pract 2015 Dec;21(12):1415-26. doi: 10.4158/EP15748.DSCPT2. PMID: 26642102
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

Millán-de-Meer M, Luque-Ramírez M, Nattero-Chávez L, Escobar-Morreale HF
Hum Reprod Update 2023 Nov 2;29(6):741-772. doi: 10.1093/humupd/dmad015. PMID: 37353908
Smirnov VV, Beeraka NM, Butko DY, Nikolenko VN, Bondarev SA, Achkasov EE, Sinelnikov MY, Vikram PRH
Reprod Sci 2023 Mar;30(3):772-786. Epub 2022 Jun 28 doi: 10.1007/s43032-022-01013-x. PMID: 35764857
Wiwatpanit T, Murphy AR, Lu Z, Urbanek M, Burdette JE, Woodruff TK, Kim JJ
J Clin Endocrinol Metab 2020 Mar 1;105(3):769-80. doi: 10.1210/clinem/dgz100. PMID: 31614364Free PMC Article
Morin SJ, Kaser DJ, Franasiak JM
Curr Opin Obstet Gynecol 2018 Jun;30(3):179-184. doi: 10.1097/GCO.0000000000000449. PMID: 29697414
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

Clinical prediction guides

Smirnov VV, Beeraka NM, Butko DY, Nikolenko VN, Bondarev SA, Achkasov EE, Sinelnikov MY, Vikram PRH
Reprod Sci 2023 Mar;30(3):772-786. Epub 2022 Jun 28 doi: 10.1007/s43032-022-01013-x. PMID: 35764857
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Morin SJ, Kaser DJ, Franasiak JM
Curr Opin Obstet Gynecol 2018 Jun;30(3):179-184. doi: 10.1097/GCO.0000000000000449. PMID: 29697414
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
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754

Recent systematic reviews

Millán-de-Meer M, Luque-Ramírez M, Nattero-Chávez L, Escobar-Morreale HF
Hum Reprod Update 2023 Nov 2;29(6):741-772. doi: 10.1093/humupd/dmad015. PMID: 37353908
Chen HA, Grimshaw AA, Taylor-Giorlando M, Vijayakumar P, Li D, Margetts M, Pelosi E, Vash-Margita A
J Ovarian Res 2023 Jan 16;16(1):13. doi: 10.1186/s13048-022-01090-1. PMID: 36642704Free PMC Article
Abraham Gnanadass S, Divakar Prabhu Y, Valsala Gopalakrishnan A
Arch Gynecol Obstet 2021 Mar;303(3):631-643. Epub 2021 Jan 13 doi: 10.1007/s00404-020-05951-2. PMID: 33439300
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
Gawron-Jakubek W, Spaczynska J, Pitynski K, Loster BW
Ginekol Pol 2019;90(12):707-710. doi: 10.5603/GP.2019.0121. PMID: 31909464

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