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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.
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
Aplasia of the ovary
MedGen UID:
452348
•Concept ID:
C0266368
•
Congenital Abnormality
Aplasia, that is failure to develop, of the ovary.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
•Concept ID:
C4021550
•
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
See: Feature record | Search on this feature
Elevated circulating luteinizing hormone level
MedGen UID:
868698
•Concept ID:
C4023101
•
Finding
An elevated concentration of luteinizing hormone in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Metformin treatment before and during IVF or ICSI in women with polycystic ovary syndrome.
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
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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

Imaging in gynecological disease (20): clinical and ultrasound characteristics of adnexal torsion.
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
Female fertility preservation in DSD.
Kalra R, Cameron M, Stern C
Best Pract Res Clin Endocrinol Metab 2019 Jun;33(3):101289. Epub 2019 Jul 9 doi: 10.1016/j.beem.2019.101289. PMID: 31331728
Polycystic Ovary Syndrome.
Azziz R
Obstet Gynecol 2018 Aug;132(2):321-336. doi: 10.1097/AOG.0000000000002698. PMID: 29995717
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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
Ovulatory dysfunction.
Lunenfeld B, Azem F
Curr Opin Obstet Gynecol 1991 Apr;3(2):176-81. PMID: 1912348

Diagnosis

Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Fragile X Syndrome: Introduction.
Reches A
Methods Mol Biol 2019;1942:3-10. doi: 10.1007/978-1-4939-9080-1_1. PMID: 30900171
Male and Female Hypogonadism.
Richard-Eaglin A
Nurs Clin North Am 2018 Sep;53(3):395-405. doi: 10.1016/j.cnur.2018.04.006. PMID: 30100005
Polycystic Ovary Syndrome.
Azziz R
Obstet Gynecol 2018 Aug;132(2):321-336. doi: 10.1097/AOG.0000000000002698. PMID: 29995717
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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

Signaling pathways and targeted therapeutic strategies for polycystic ovary syndrome.
Wang K, Li Y
Front Endocrinol (Lausanne) 2023;14:1191759. Epub 2023 Oct 19 doi: 10.3389/fendo.2023.1191759. PMID: 37929034Free PMC Article
Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Randomized Controlled Trial of Neurokinin 3 Receptor Antagonist Fezolinetant for Treatment of Polycystic Ovary Syndrome.
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
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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
Chemotherapy and fertility.
Blumenfeld Z
Best Pract Res Clin Obstet Gynaecol 2012 Jun;26(3):379-90. Epub 2012 Jan 26 doi: 10.1016/j.bpobgyn.2011.11.008. PMID: 22281514

Prognosis

PCOS during the menopausal transition and after menopause: a systematic review and meta-analysis.
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
Scaffold-Free Endometrial Organoids Respond to Excess Androgens Associated With Polycystic Ovarian Syndrome.
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
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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
Oral contraceptives in polycystic ovary syndrome.
Helvaci N, Yildiz BO
Minerva Endocrinol 2014 Sep;39(3):175-87. Epub 2014 Jul 8 PMID: 25003228
Malignant ovarian germ-cell tumours.
Low JJ, Ilancheran A, Ng JS
Best Pract Res Clin Obstet Gynaecol 2012 Jun;26(3):347-55. Epub 2012 Feb 1 doi: 10.1016/j.bpobgyn.2012.01.002. PMID: 22301054

Clinical prediction guides

Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
The dilemma of aneuploidy screening on low responders.
Morin SJ, Kaser DJ, Franasiak JM
Curr Opin Obstet Gynecol 2018 Jun;30(3):179-184. doi: 10.1097/GCO.0000000000000449. PMID: 29697414
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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
Pediatric appendicitis score.
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754
Premature ovarian failure.
Vegetti W, Marozzi A, Manfredini E, Testa G, Alagna F, Nicolosi A, Caliari I, Taborelli M, Tibiletti MG, Dalprà L, Crosignani PG
Mol Cell Endocrinol 2000 Mar 30;161(1-2):53-7. doi: 10.1016/s0303-7207(99)00224-5. PMID: 10773392

Recent systematic reviews

PCOS during the menopausal transition and after menopause: a systematic review and meta-analysis.
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
Ovarian absence: a systematic literature review and case series report.
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
Association of metabolic and inflammatory markers with polycystic ovarian syndrome (PCOS): an update.
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
Metformin treatment before and during IVF or ICSI in women with polycystic ovary syndrome.
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
Coexistence of tooth agenesis and ovarian cancer - a systematic literature review.
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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      Clinical tests in GTR
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