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Ovarian dysgenesis 10(ODG10)

MedGen UID:
1801078
Concept ID:
C5676966
Disease or Syndrome
Synonym: ODG10
 
Gene (location): ZSWIM7 (17p12)
 
Monarch Initiative: MONDO:0030736
OMIM®: 619834

Definition

Ovarian dysgenesis-10 (ODG10) is characterized by primary amenorrhea and absent puberty. The uterus is small and prepubertal, and ovaries are streak or not visualized on ultrasound (McGlacken-Byrne et al., 2022). Mutation in the ZSWIM7 gene also causes male infertility due to spermatogenic failure (SPGF71; 619831). 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.
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Streak ovary
MedGen UID:
78597
Concept ID:
C0266371
Congenital Abnormality
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
Hypoplasia of the ovary
MedGen UID:
672766
Concept ID:
C0685840
Congenital Abnormality
Developmental hypoplasia of the ovary.
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.
Decreased serum estradiol
MedGen UID:
69129
Concept ID:
C0241011
Finding
A reduction below normal concentration of estradiol in the circulation.
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
Concept ID:
C4021550
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level
MedGen UID:
868698
Concept ID:
C4023101
Finding
An elevated concentration of luteinizing hormone in the blood.

Professional guidelines

PubMed

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
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
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

Stener-Victorin E, Teede H, Norman RJ, Legro R, Goodarzi MO, Dokras A, Laven J, Hoeger K, Piltonen TT
Nat Rev Dis Primers 2024 Apr 18;10(1):27. doi: 10.1038/s41572-024-00511-3. PMID: 38637590
Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Cussen L, McDonnell T, Bennett G, Thompson CJ, Sherlock M, O'Reilly MW
Clin Endocrinol (Oxf) 2022 Aug;97(2):174-186. Epub 2022 Mar 29 doi: 10.1111/cen.14710. PMID: 35349173Free PMC Article
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
Endocr Pract 2015 Dec;21(12):1415-26. doi: 10.4158/EP15748.DSCPT2. PMID: 26642102
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

Reyes AP, León NY, Frost ER, Harley VR
Nat Rev Urol 2023 Jul;20(7):434-451. Epub 2023 Apr 5 doi: 10.1038/s41585-023-00754-x. PMID: 37020056
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
Cussen L, McDonnell T, Bennett G, Thompson CJ, Sherlock M, O'Reilly MW
Clin Endocrinol (Oxf) 2022 Aug;97(2):174-186. Epub 2022 Mar 29 doi: 10.1111/cen.14710. PMID: 35349173Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Yatsenko SA, Rajkovic A
Biol Reprod 2019 Sep 1;101(3):549-566. doi: 10.1093/biolre/ioz084. PMID: 31077289Free PMC Article

Therapy

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
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
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
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
Endocr Pract 2015 Dec;21(12):1415-26. doi: 10.4158/EP15748.DSCPT2. PMID: 26642102
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

Prognosis

Aishworiya R, Hwang YH, Santos E, Hayward B, Usdin K, Durbin-Johnson B, Hagerman R, Tassone F
Sci Rep 2023 Apr 29;13(1):7050. doi: 10.1038/s41598-023-33528-x. PMID: 37120588Free PMC Article
Tsai PS, Yamauchi Y, Riel JM, Ward MA
Sci Rep 2020 Jul 23;10(1):12254. doi: 10.1038/s41598-020-69247-w. PMID: 32703993Free PMC Article
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
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092
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

Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
Pastore LM, Christianson MS, McGuinness B, Vaught KC, Maher JY, Kearns WG
Reprod Biomed Online 2019 Apr;38(4):560-569. Epub 2018 Dec 10 doi: 10.1016/j.rbmo.2018.11.009. PMID: 30711457Free PMC Article
Yin W, Bian Z
Oral Dis 2016 May;22(4):265-73. Epub 2016 Jan 13 doi: 10.1111/odi.12400. PMID: 26600092
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
Fratantonio E, Vicari E, Pafumi C, Calogero AE
Reprod Biomed Online 2005 Jun;10(6):713-20. doi: 10.1016/s1472-6483(10)61114-5. PMID: 15969998

Recent systematic reviews

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
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
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
Piazza MJ, Urbanetz AA
Clinics (Sao Paulo) 2019;74:e408. Epub 2019 Nov 11 doi: 10.6061/clinics/2019/e408. PMID: 31721911Free PMC Article
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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