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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

The Interlink Between Metabolic-Associated Fatty Liver Disease and Polycystic Ovary Syndrome.
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
Cis-Regulatory Control of Mammalian Sex Determination.
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
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
Oral contraceptives in polycystic ovary syndrome.
Helvaci N, Yildiz BO
Minerva Endocrinol 2014 Sep;39(3):175-87. Epub 2014 Jul 8 PMID: 25003228

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
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
Turner's syndrome: a paediatric perspective.
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

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
Pediatric appendicitis score.
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754
Prognosis for fertility and ovarian function after treatment with radioiodine for thyroid cancer.
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
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

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
Sonography of Abdominal Pain in Children: Appendicitis and Its Common Mimics.
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
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
Ovarian dysgerminoma and Apert syndrome.
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
Pediatric appendicitis score.
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754

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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