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Ovarian dysgenesis 9(ODG9)

MedGen UID:
1794256
•Concept ID:
C5562046
•
Disease or Syndrome
Synonyms: ODG9; OVARIAN DYSGENESIS 9
 
Gene (location): SPIDR (8q11.21)
 
Monarch Initiative: MONDO:0030506
OMIM®: 619665

Definition

Ovarian dysgenesis-9 (ODG9) is characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Patient cells show evidence of chromosomal instability (Smirin-Yosef et al., 2017; Heddar et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). [from OMIM]

Clinical features

From HPO
Premature ovarian insufficiency
MedGen UID:
9963
•Concept ID:
C0025322
•
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
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
Uterine hypoplasia
MedGen UID:
120575
•Concept ID:
C0266399
•
Congenital Abnormality
Underdevelopment of the uterus.
See: Feature record | Search on this feature
Hypoplasia of the ovary
MedGen UID:
672766
•Concept ID:
C0685840
•
Congenital Abnormality
Developmental hypoplasia of the ovary.
See: Feature record | Search on this feature
Delayed skeletal maturation
MedGen UID:
108148
•Concept ID:
C0541764
•
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
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
Decreased serum estradiol
MedGen UID:
69129
•Concept ID:
C0241011
•
Finding
A reduction below normal concentration of estradiol in the circulation.
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
Decreased cirrculating antimullerian hormone circulation
MedGen UID:
1391876
•Concept ID:
C4476972
•
Finding
A reduction below the normal range of the antimullerian hormone in the circulation.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Insulin resistance in polycystic ovary syndrome across various tissues: an updated review of pathogenesis, evaluation, and treatment.
Zhao H, Zhang J, Cheng X, Nie X, He B
J Ovarian Res 2023 Jan 11;16(1):9. doi: 10.1186/s13048-022-01091-0. PMID: 36631836Free 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

AMH as part of the diagnostic PCOS workup in large epidemiological studies.
Piltonen TT, Komsi E, Morin-Papunen LC, Korhonen E, Franks S, Järvelin MR, Arffman RK, Ollila MM
Eur J Endocrinol 2023 Jun 7;188(6):547-554. doi: 10.1093/ejendo/lvad065. PMID: 37294941
Trisomy 21 and Assisted Reproductive Technologies: A review.
Sánchez-Pavón E, Mendoza H, García-Ferreyra J
JBRA Assist Reprod 2022 Jan 17;26(1):129-141. doi: 10.5935/1518-0557.20210047. PMID: 34542250Free 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
Valproic Acid in Women and Girls of Childbearing Age.
Gotlib D, Ramaswamy R, Kurlander JE, DeRiggi A, Riba M
Curr Psychiatry Rep 2017 Sep;19(9):58. doi: 10.1007/s11920-017-0809-3. PMID: 28726062
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

Diagnosis

AMH as part of the diagnostic PCOS workup in large epidemiological studies.
Piltonen TT, Komsi E, Morin-Papunen LC, Korhonen E, Franks S, Järvelin MR, Arffman RK, Ollila MM
Eur J Endocrinol 2023 Jun 7;188(6):547-554. doi: 10.1093/ejendo/lvad065. PMID: 37294941
Polycystic ovary syndrome.
Joham AE, Norman RJ, Stener-Victorin E, Legro RS, Franks S, Moran LJ, Boyle J, Teede HJ
Lancet Diabetes Endocrinol 2022 Sep;10(9):668-680. Epub 2022 Aug 4 doi: 10.1016/S2213-8587(22)00163-2. PMID: 35934017
Non-syndromic monogenic female infertility.
Guerri G, Maniscalchi T, Barati S, Gerli S, Di Renzo GC, Della Morte C, Marceddu G, Casadei A, Laganà AS, Sturla D, Ghezzi F, Garzon S, Unfer V, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):68-74. doi: 10.23750/abm.v90i10-S.8763. PMID: 31577258Free 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
Premature adrenarche.
Saenger P, Dimartino-Nardi J
J Endocrinol Invest 2001 Oct;24(9):724-33. doi: 10.1007/BF03343917. PMID: 11716159

Therapy

Anatomical variations, treatment and outcomes of Herlyn-Werner-Wunderlich syndrome: a literature review of 1673 cases.
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
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
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
The progestogen-only mini-pill.
Graham S, Fraser IS
Contraception 1982 Oct;26(4):373-88. doi: 10.1016/0010-7824(82)90104-4. PMID: 6759029

Prognosis

Pelvic masses after surgery for immature ovarian teratoma: A 10-year experience of Western China.
Xie S, Jia X, Li T, Xu Y, Wu W, Qiu Y, Yuan S, Peng X, Wang H
Medicine (Baltimore) 2022 Aug 5;101(31):e29727. doi: 10.1097/MD.0000000000029727. PMID: 35945757Free PMC Article
Are ovarian responses and the number of transferable embryos different in females and partners of male balanced translocation carriers?
Liu M, Bu Z, Liu Y, Liu J, Dai S
J Assist Reprod Genet 2022 Sep;39(9):2019-2026. Epub 2022 Aug 4 doi: 10.1007/s10815-022-02563-4. PMID: 35925537Free PMC Article
Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing?
Ranisavljevic N, Hess M, Castelli C, Willems M, Ferrieres-Hoa A, Girardet A, Anahory T
J Assist Reprod Genet 2020 Jul;37(7):1675-1683. Epub 2020 Jun 2 doi: 10.1007/s10815-020-01809-3. PMID: 32483686Free PMC Article
Genetic Syndromes with Pancreatic Manifestations.
Pittman ME, Brosens LA, Wood LD
Surg Pathol Clin 2016 Dec;9(4):705-715. Epub 2016 Oct 12 doi: 10.1016/j.path.2016.05.012. PMID: 27926368
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

Clinical prediction guides

Early Clinical, Biochemical and Radiological Features in Obese and Non-Obese Young Women with Polycystic Ovarian Syndrome: A Comparative Study.
Kumar N, Agarwal H
Horm Metab Res 2022 Sep;54(9):620-624. Epub 2022 Jul 20 doi: 10.1055/a-1880-1264. PMID: 35858631
Approach to the Virilizing Girl at Puberty.
Santi M, Graf S, Zeino M, Cools M, Van De Vijver K, Trippel M, Aliu N, Flück CE
J Clin Endocrinol Metab 2021 Apr 23;106(5):1530-1539. doi: 10.1210/clinem/dgaa948. PMID: 33367768Free PMC Article
Undernutrition and hyperandrogenism during pregnancy: Role in programming of cardiovascular disease and infertility.
Mossa F, Latham KE, Ireland JJ, Veiga-Lopez A
Mol Reprod Dev 2019 Sep;86(9):1255-1264. Epub 2019 Jul 25 doi: 10.1002/mrd.23239. PMID: 31347224
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
X chromosome and ovarian failure.
Toniolo D, Rizzolio F
Semin Reprod Med 2007 Jul;25(4):264-71. doi: 10.1055/s-2007-980220. PMID: 17594607

Recent systematic reviews

Anatomical variations, treatment and outcomes of Herlyn-Werner-Wunderlich syndrome: a literature review of 1673 cases.
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
Prevalence of PCOS and related hyperandrogenic traits in premenopausal women with type 1 diabetes: a systematic review and meta-analysis.
Bayona A, Martínez-Vaello V, Zamora J, Nattero-Chávez L, Luque-Ramírez M, Escobar-Morreale HF
Hum Reprod Update 2022 Jun 30;28(4):501-517. doi: 10.1093/humupd/dmac011. PMID: 35237802
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
Animal models of hyperandrogenism and ovarian morphology changes as features of polycystic ovary syndrome: a systematic review.
Paixão L, Ramos RB, Lavarda A, Morsh DM, Spritzer PM
Reprod Biol Endocrinol 2017 Feb 10;15(1):12. doi: 10.1186/s12958-017-0231-z. PMID: 28183310Free PMC Article
Ovarian Stimulation, Intrauterine Insemination, Multiple Pregnancy and Major Congenital Malformations: A Systematic Review and Meta- Analysis- The ART_Rev Study.
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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