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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 is characterized by absence of spontaneous pubertal development in females with elevated gonadotropin levels, small uterus, and absence of ovarian tissue on imaging studies. Males appear to be unaffected (Weinberg-Shukron et al., 2015). 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
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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
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

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
Oral contraception.
Andrews WC
Clin Obstet Gynaecol 1979 Apr;6(1):3-26. PMID: 383349

Prognosis

Ovarian Leydig Cell Tumor and Ovarian Hyperthecosis in a Postmenopausal Woman: A Case Report and Literature Review.
Bužinskienė D, Marčiukaitytė R, Šidlovska E, Rudaitis V
Medicina (Kaunas) 2023 Jun 6;59(6) doi: 10.3390/medicina59061097. PMID: 37374301Free PMC Article
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
Hyperandrogenism and menstrual imbalance are the best predictors of metformin response in PCOS patients.
Garzia E, Galiano V, Marfia G, Navone S, Grossi E, Marconi AM
Reprod Biol Endocrinol 2022 Jan 4;20(1):6. doi: 10.1186/s12958-021-00876-0. PMID: 34983571Free 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
Immunosuppressive and cytotoxic chemotherapy: long-term complications.
Schein PS, Winokur SH
Ann Intern Med 1975 Jan;82(1):84-95. doi: 10.7326/0003-4819-82-1-84. PMID: 67817

Clinical prediction guides

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
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
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
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
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

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    • ClinVar
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      Clinical tests in GTR
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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