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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 insuficiency (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 circulating 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

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

Quilichini J, Perol S, Cuisset L, Grotto S, Fouveaut C, Barbot JC, Verebi C, Jordan P, Héron D, Molina-Gomes D, Pipiras E, Grynberg M, Catteau-Jonard S, Touraine P, Christin-Maître S, Plu-Bureau G, El Khattabi L, Bienvenu T
Am J Med Genet A 2024 Apr;194(4):e63479. Epub 2023 Nov 21 doi: 10.1002/ajmg.a.63479. PMID: 37987117

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

Disorders of Sex Development-Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation.

Gomes NL, Chetty T, Jorgensen A, Mitchell RT
Int J Mol Sci 2020 Mar 26;21(7) doi: 10.3390/ijms21072282. PMID: 32224856 Free PMC Article

Annular hymenotomy for imperforate hymen.

Cetin C, Soysal C, Khatib G, Urunsak IF, Cetin T
J Obstet Gynaecol Res 2016 Aug;42(8):1013-5. Epub 2016 Apr 20 doi: 10.1111/jog.13010. PMID: 27094100

See all (358)

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

Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?

Mitchell G, Schrader KA
Surg Pathol Clin 2016 Jun;9(2):301-6. Epub 2016 Apr 11 doi: 10.1016/j.path.2016.01.009. PMID: 27241110

Annular hymenotomy for imperforate hymen.

Cetin C, Soysal C, Khatib G, Urunsak IF, Cetin T
J Obstet Gynaecol Res 2016 Aug;42(8):1013-5. Epub 2016 Apr 20 doi: 10.1111/jog.13010. PMID: 27094100

See all (311)

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

Metreleptin for injection to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy.

Meehan CA, Cochran E, Kassai A, Brown RJ, Gorden P
Expert Rev Clin Pharmacol 2016;9(1):59-68. Epub 2015 Oct 14 doi: 10.1586/17512433.2016.1096772. PMID: 26465174 Free PMC Article

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

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

Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?

Mitchell G, Schrader KA
Surg Pathol Clin 2016 Jun;9(2):301-6. Epub 2016 Apr 11 doi: 10.1016/j.path.2016.01.009. PMID: 27241110

Serum anti-Mullerian hormone levels in the main phenotypes of polycystic ovary syndrome.

Sahmay S, Atakul N, Oncul M, Tuten A, Aydogan B, Seyisoglu H
Eur J Obstet Gynecol Reprod Biol 2013 Sep;170(1):157-61. Epub 2013 Jun 24 doi: 10.1016/j.ejogrb.2013.05.019. PMID: 23806449

Recurrence of a dysgerminoma in Frasier syndrome.

Mestrallet G, Bertholet-Thomas A, Ranchin B, Bouvier R, Frappaz D, Cochat P
Pediatr Transplant 2011 May;15(3):e53-5. doi: 10.1111/j.1399-3046.2010.01273.x. PMID: 20408995

See all (139)

Clinical prediction guides

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.

Annular hymenotomy for imperforate hymen.

Cetin C, Soysal C, Khatib G, Urunsak IF, Cetin T
J Obstet Gynaecol Res 2016 Aug;42(8):1013-5. Epub 2016 Apr 20 doi: 10.1111/jog.13010. PMID: 27094100

Serum anti-Mullerian hormone levels in the main phenotypes of polycystic ovary syndrome.

Sahmay S, Atakul N, Oncul M, Tuten A, Aydogan B, Seyisoglu H
Eur J Obstet Gynecol Reprod Biol 2013 Sep;170(1):157-61. Epub 2013 Jun 24 doi: 10.1016/j.ejogrb.2013.05.019. PMID: 23806449

Women with a reduced ovarian complement may have an increased risk for a child with Down syndrome.

Freeman SB, Yang Q, Allran K, Taft LF, Sherman SL
Am J Hum Genet 2000 May;66(5):1680-3. Epub 2000 Mar 24 doi: 10.1086/302907. PMID: 10733467 Free PMC Article

See all (196)

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: 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

See all (9)

MedGen

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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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