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Ovarian dysgenesis 9(ODG9)

MedGen UID:: 1794256
•Concept ID:: C5562046
•: Disease or Syndrome

Synonyms:	ODG9; OVARIAN DYSGENESIS 9

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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Primary amenorrhea

MedGen UID:: 115918
•Concept ID:: C0232939
•: Disease or Syndrome

Abnormally late or absent menarche in a female with normal secondary sexual characteristics.

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Uterine hypoplasia

MedGen UID:: 120575
•Concept ID:: C0266399
•: Congenital Abnormality

Underdevelopment of the uterus.

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Hypoplasia of the ovary

MedGen UID:: 672766
•Concept ID:: C0685840
•: Congenital Abnormality

Developmental hypoplasia of the ovary.

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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.

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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.

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Decreased serum estradiol

MedGen UID:: 69129
•Concept ID:: C0241011
•: Finding

A reduction below normal concentration of estradiol in the circulation.

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Elevated circulating follicle stimulating hormone level

MedGen UID:: 867192
•Concept ID:: C4021550
•: Finding

An elevated concentration of follicle-stimulating hormone in the blood.

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Elevated circulating luteinizing hormone level

MedGen UID:: 868698
•Concept ID:: C4023101
•: Finding

An elevated concentration of luteinizing hormone in the blood.

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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.

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Abnormality of the endocrine system
Abnormality of the genitourinary system
Abnormality of the musculoskeletal system
- Delayed skeletal maturation

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: 36631836 Free 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: 33347618 Free 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

See all (38)

Recent clinical studies

Etiology

Does recurrent implantation failure exist? Prevalence and outcomes of five consecutive euploid blastocyst transfers in 123 987 patients.

Gill P, Ata B, Arnanz A, Cimadomo D, Vaiarelli A, Fatemi HM, Ubaldi FM, Garcia-Velasco JA, Seli E
Hum Reprod 2024 May 2;39(5):974-980. doi: 10.1093/humrep/deae040. PMID: 38452358

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: 33347618 Free 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

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

See all (354)

Diagnosis

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: 31577258 Free PMC Article

Premature adrenarche.

Saenger P, Dimartino-Nardi J
J Endocrinol Invest 2001 Oct;24(9):724-33. doi: 10.1007/BF03343917. PMID: 11716159

Adolescent laparoscopy.

Creatsas G, Hassan E, Koumantakis E
Clin Exp Obstet Gynecol 1997;24(3):147-8. PMID: 9478301

See all (305)

Therapy

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: 34000049 Free 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: 33347618 Free 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

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

See all (132)

Prognosis

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome-a scoping review.

van der Coelen S, van der Velden J, Nadesapillai S, Braat D, Peek R, Fleischer K
Hum Reprod Update 2024 Jul 1;30(4):383-409. doi: 10.1093/humupd/dmae005. PMID: 38452347 Free 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

Clinical spectrum of premature pubarche: links to metabolic syndrome and ovarian hyperandrogenism.

Ibáñez L, Díaz R, López-Bermejo A, Marcos MV
Rev Endocr Metab Disord 2009 Mar;10(1):63-76. doi: 10.1007/s11154-008-9096-y. PMID: 18726694

How possible is the prevention of polycystic ovary syndrome development in adolescent patients with early onset of hyperandrogenism.

Apter D
J Endocrinol Invest 1998 Oct;21(9):613-7. doi: 10.1007/BF03350786. PMID: 9856415

See all (137)

Clinical prediction guides

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: 33367768 Free 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

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

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

See all (191)

Recent systematic reviews

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: 33347618 Free PMC Article

Turner Syndrome Systematic Review: Spontaneous Thelarche and Menarche Stratified by Karyotype.

Dabrowski E, Jensen R, Johnson EK, Habiby RL, Brickman WJ, Finlayson C
Horm Res Paediatr 2019;92(3):143-149. Epub 2020 Jan 9 doi: 10.1159/000502902. PMID: 31918426

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: 28183310 Free PMC Article

Ovarian Stimulation, Intrauterine Insemination, Multiple Pregnancy and Major Congenital Malformations: A Systematic Review and Meta- Analysis- The ART_Rev Study.

See all (9)

MedGen

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Links from OMIM

Ovarian dysgenesis 9(ODG9)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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