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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 (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
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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
Swyer syndrome.
King TF, Conway GS
Curr Opin Endocrinol Diabetes Obes 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. PMID: 25314337
Abdominal masses.
Stevenson RJ
Surg Clin North Am 1985 Dec;65(6):1481-504. doi: 10.1016/s0039-6109(16)43783-7. PMID: 3000009

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
Turner's syndrome: a paediatric perspective.
Sas TC, de Muinck Keizer-Schrama SM; Dutch Advisory Group on Growth Hormone
Horm Res 2001;56 Suppl 1:38-43. doi: 10.1159/000048133. PMID: 11786684

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
Gonadoblastoma in patients with Ullrich-Turner syndrome.
Zelaya G, López Marti JM, Marino R, Garcia de Dávila MT, Gallego MS
Pediatr Dev Pathol 2015 Mar-Apr;18(2):117-21. Epub 2014 Dec 23 doi: 10.2350/14-08-1539-OA.1. PMID: 25535833
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
Long-term reproductive and metabolic consequences of PCOS.
Hudecova M, Jan H, Christian B, Poromaa Inger S
Curr Diabetes Rev 2012 Nov;8(6):444-51. doi: 10.2174/157339912803529913. PMID: 22934549

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
An explanation of the mechanisms underlying fragile X-associated premature ovarian insufficiency.
Rose BI, Brown SE
J Assist Reprod Genet 2020 Jun;37(6):1313-1322. Epub 2020 May 6 doi: 10.1007/s10815-020-01774-x. PMID: 32377997Free PMC Article
Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development.
Eser M, Ayaz A
Balkan Med J 2018 May 29;35(3):272-274. Epub 2017 Dec 8 doi: 10.4274/balkanmedj.2017.0378. PMID: 29219112Free PMC Article
Plicae palmatae in neonates: tumor mimic on sonography.
Kitami M
J Med Ultrason (2001) 2018 Jan;45(1):193-196. Epub 2017 Jun 10 doi: 10.1007/s10396-017-0797-2. PMID: 28601980

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
Anti-Müllerian hormone levels in the diagnosis of adolescent polycystic ovarian syndrome: a systematic review and meta-analysis.
Tsukui Y, Kitahara Y, Hasegawa Y, Kobayashi M, Osuka S, Iwase A
Endocr J 2022 Aug 29;69(8):897-906. Epub 2022 Jun 8 doi: 10.1507/endocrj.EJ22-0081. PMID: 35675999
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.
Volozonoka L, Miskova A, Kornejeva L, Kempa I, Bargatina V, Gailite L
Reproduction 2022 Apr 22;163(6):351-363. doi: 10.1530/REP-21-0486. PMID: 35451369Free 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

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