U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ovarian dysgenesis 6(ODG6)

MedGen UID:
1648307
•Concept ID:
C4748084
•
Disease or Syndrome
Synonyms: ODG6; OVARIAN DYSGENESIS 6
 
Gene (location): NUP107 (12q15)
 
Monarch Initiative: MONDO:0054850
OMIM®: 618078

Definition

Ovarian dysgenesis-6 (ODG6) is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and small or absent ovaries on imaging studies. Males appear to be unaffected (Weinberg-Shukron et al., 2015; Tucker et al., 2022). For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). [from OMIM]

Clinical features

From HPO
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
Hypergonadotropic hypogonadism
MedGen UID:
184926
•Concept ID:
C0948896
•
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
See: Feature record | Search on this feature
Absence of pubertal development
MedGen UID:
375841
•Concept ID:
C1846228
•
Finding
See: Feature record | Search on this feature
Show allHide all

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
Aetiology And Management Of Primary Amenorrhoea.
Islam A, Zubair M, Wahid S, Noreen U
J Ayub Med Coll Abbottabad 2021 Apr-Jun;33(2):262-266. PMID: 34137542
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

Recent clinical studies

Etiology

Practical Approach to Hyperandrogenism in Women.
Sharma A, Welt CK
Med Clin North Am 2021 Nov;105(6):1099-1116. Epub 2021 Sep 8 doi: 10.1016/j.mcna.2021.06.008. PMID: 34688417Free 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
Imaging in gynecological disease (20): clinical and ultrasound characteristics of adnexal torsion.
Moro F, Bolomini G, Sibal M, Vijayaraghavan SB, Venkatesh P, Nardelli F, Pasciuto T, Mascilini F, Pozzati F, Leone FPG, Josefsson H, Epstein E, Guerriero S, Scambia G, Valentin L, Testa AC
Ultrasound Obstet Gynecol 2020 Dec;56(6):934-943. Epub 2020 Nov 10 doi: 10.1002/uog.21981. PMID: 31975482
Down syndrome and infertility: what support should we provide?
Parizot E, Dard R, Janel N, Vialard F
J Assist Reprod Genet 2019 Jun;36(6):1063-1067. Epub 2019 May 9 doi: 10.1007/s10815-019-01457-2. PMID: 31073724Free PMC Article

Diagnosis

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ
Cells 2023 Sep 21;12(18) doi: 10.3390/cells12182330. PMID: 37759552Free PMC Article
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.
Dapas M, Dunaif A
Endocr Rev 2022 Nov 25;43(6):927-965. doi: 10.1210/endrev/bnac001. PMID: 35026001Free PMC Article
Practical Approach to Hyperandrogenism in Women.
Sharma A, Welt CK
Med Clin North Am 2021 Nov;105(6):1099-1116. Epub 2021 Sep 8 doi: 10.1016/j.mcna.2021.06.008. PMID: 34688417Free PMC Article
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337

Therapy

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
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Practical Approach to Hyperandrogenism in Women.
Sharma A, Welt CK
Med Clin North Am 2021 Nov;105(6):1099-1116. Epub 2021 Sep 8 doi: 10.1016/j.mcna.2021.06.008. PMID: 34688417Free 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
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337

Prognosis

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
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Gorlin syndrome.
Singh AK, Lopez-Araujo A, Katabathina VS
J Pediatr 2014 Jun;164(6):1501-1501.e1. Epub 2014 Mar 3 doi: 10.1016/j.jpeds.2014.01.048. PMID: 24602407
The lucky and the unlucky.
Geirsson RT
Acta Obstet Gynecol Scand 2011 Jun;90(6):557-8. doi: 10.1111/j.1600-0412.2011.01154.x. PMID: 21592107
Pediatric appendicitis score.
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754

Clinical prediction guides

Metabolic characteristics of different phenotypes in reproductive-aged women with polycystic ovary syndrome.
Wen X, Wang L, Bai E
Front Endocrinol (Lausanne) 2024;15:1370578. Epub 2024 Jul 23 doi: 10.3389/fendo.2024.1370578. PMID: 39109080Free PMC Article
History of Polycystic Ovary Syndrome, Premature Adrenarche, and Hyperandrogenism in Pediatric Endocrinology.
Witchel SF, Azziz R, Oberfield SE
Horm Res Paediatr 2022;95(6):557-567. Epub 2022 Nov 29 doi: 10.1159/000526722. PMID: 36446329
The Polycystic Ovary Morphology-Polycystic Ovary Syndrome Spectrum.
Rosenfield RL
J Pediatr Adolesc Gynecol 2015 Dec;28(6):412-9. Epub 2014 Aug 27 doi: 10.1016/j.jpag.2014.07.016. PMID: 25840648Free PMC Article
Genetics of polycystic ovarian syndrome.
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
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
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
Use of platinum derivatives during pregnancy.
Mir O, Berveiller P, Ropert S, Goffinet F, Goldwasser F
Cancer 2008 Dec 1;113(11):3069-74. doi: 10.1002/cncr.23935. PMID: 18985677
Is ovarian surgery effective for androgenic symptoms of polycystic ovarian syndrome?
Johnson NP, Wang K
J Obstet Gynaecol 2003 Nov;23(6):599-606. doi: 10.1080/01443610310001604330. PMID: 14617458

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...