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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

Vidal-Cevallos P, Mijangos-Trejo A, Uribe M, Tapia NC
Endocrinol Metab Clin North Am 2023 Sep;52(3):533-545. Epub 2023 Mar 15 doi: 10.1016/j.ecl.2023.01.005. PMID: 37495343
Ridnik M, Schoenfelder S, Gonen N
Sex Dev 2021;15(5-6):317-334. Epub 2021 Oct 28 doi: 10.1159/000519244. PMID: 34710870Free PMC Article
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
Helvaci N, Yildiz BO
Minerva Endocrinol 2014 Sep;39(3):175-87. Epub 2014 Jul 8 PMID: 25003228

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
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
Helvaci N, Yildiz BO
Minerva Endocrinol 2014 Sep;39(3):175-87. Epub 2014 Jul 8 PMID: 25003228
Sas TC, de Muinck Keizer-Schrama SM; Dutch Advisory Group on Growth Hormone
Horm Res 2001;56 Suppl 1:38-43. doi: 10.1159/000048133. PMID: 11786684

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
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
Helvaci N, Yildiz BO
Minerva Endocrinol 2014 Sep;39(3):175-87. Epub 2014 Jul 8 PMID: 25003228
Vini L, Hyer S, Al-Saadi A, Pratt B, Harmer C
Postgrad Med J 2002 Feb;78(916):92-3. doi: 10.1136/pmj.78.916.92. PMID: 11807191Free PMC Article
McDonough PG, Byrd JR
Clin Obstet Gynecol 1977 Sep;20(3):565-79. doi: 10.1097/00003081-197709000-00007. PMID: 891055

Clinical prediction guides

Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Sanchez TR, Corwin MT, Davoodian A, Stein-Wexler R
J Ultrasound Med 2016 Mar;35(3):627-35. Epub 2016 Feb 18 doi: 10.7863/ultra.15.04047. PMID: 26892821
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
Rouzier C, Soler C, Hofman P, Brennetot C, Bieth E, Pedeutour F
Pediatr Blood Cancer 2008 Mar;50(3):696-8. doi: 10.1002/pbc.21156. PMID: 17243131
Hagerman RJ, Hagerman PJ
Curr Opin Genet Dev 2002 Jun;12(3):278-83. doi: 10.1016/s0959-437x(02)00299-x. PMID: 12076670

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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