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Ovarian dysgenesis 8(ODG8)

MedGen UID:
1648455
•Concept ID:
C4748626
•
Disease or Syndrome
Synonyms: ODG8; OVARIAN DYSGENESIS 8
 
Gene (location): ESR2 (14q23.2-23.3)
 
Monarch Initiative: MONDO:0032590
OMIM®: 618187

Definition

Ovarian dysgenesis-8 (ODG8) is characterized by complete lack of estrogen action, resulting in absent breast development, primary amenorrhea, and osteoporosis (Lang-Muritano et al., 2018). 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
Hypoplastic labia majora
MedGen UID:
107566
•Concept ID:
C0566899
•
Finding
Undergrowth of the outer labia.
See: Feature record | Search on this feature
Eunuchoid habitus
MedGen UID:
871104
•Concept ID:
C4025569
•
Finding
A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).
See: Feature record | Search on this feature
Osteoporosis
MedGen UID:
14535
•Concept ID:
C0029456
•
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
See: Feature record | Search on this feature
Decreased serum estradiol
MedGen UID:
69129
•Concept ID:
C0241011
•
Finding
A reduction below normal concentration of estradiol in the circulation.
See: Feature record | Search on this feature
Elevated circulating follicle stimulating hormone level
MedGen UID:
867192
•Concept ID:
C4021550
•
Finding
An elevated concentration of follicle-stimulating hormone in the blood.
See: Feature record | Search on this feature
Elevated circulating luteinizing hormone level
MedGen UID:
868698
•Concept ID:
C4023101
•
Finding
An elevated concentration of luteinizing hormone in the blood.
See: Feature record | Search on this feature
Decreased cirrculating antimullerian hormone circulation
MedGen UID:
1391876
•Concept ID:
C4476972
•
Finding
A reduction below the normal range of the antimullerian hormone in the circulation.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Controversies in the Pathogenesis, Diagnosis and Treatment of PCOS: Focus on Insulin Resistance, Inflammation, and Hyperandrogenism.
Armanini D, Boscaro M, Bordin L, Sabbadin C
Int J Mol Sci 2022 Apr 8;23(8) doi: 10.3390/ijms23084110. PMID: 35456928Free PMC Article
Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free 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

Recent clinical studies

Etiology

Reproductive health in Turner's syndrome: from puberty to pregnancy.
Porcu E, Cipriani L, Damiano G
Front Endocrinol (Lausanne) 2023;14:1269009. Epub 2023 Dec 5 doi: 10.3389/fendo.2023.1269009. PMID: 38116311Free PMC Article
AMH as part of the diagnostic PCOS workup in large epidemiological studies.
Piltonen TT, Komsi E, Morin-Papunen LC, Korhonen E, Franks S, Järvelin MR, Arffman RK, Ollila MM
Eur J Endocrinol 2023 Jun 7;188(6):547-554. doi: 10.1093/ejendo/lvad065. PMID: 37294941
Polycystic ovary syndrome and metabolic disorders: A review of the literature.
Ali AT, Al-Ani O, Al-Ani F, Guidozzi F
Afr J Reprod Health 2022 Aug;26(8):89-99. doi: 10.29063/ajrh2022/v26i8.9. PMID: 37585035
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

Diagnosis

Dysregulated Liver Metabolism and Polycystic Ovarian Syndrome.
Khan MS, Kim HS, Kim R, Yoon SH, Kim SG
Int J Mol Sci 2023 Apr 18;24(8) doi: 10.3390/ijms24087454. PMID: 37108615Free PMC Article
Polycystic ovary syndrome and metabolic disorders: A review of the literature.
Ali AT, Al-Ani O, Al-Ani F, Guidozzi F
Afr J Reprod Health 2022 Aug;26(8):89-99. doi: 10.29063/ajrh2022/v26i8.9. PMID: 37585035
Controversies in the Pathogenesis, Diagnosis and Treatment of PCOS: Focus on Insulin Resistance, Inflammation, and Hyperandrogenism.
Armanini D, Boscaro M, Bordin L, Sabbadin C
Int J Mol Sci 2022 Apr 8;23(8) doi: 10.3390/ijms23084110. PMID: 35456928Free PMC Article
Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free 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

Therapy

Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
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: 34000049Free 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
Polycystic ovarian disease.
Raj SG, Talbert LM
Obstet Gynecol Annu 1984;13:261-73. PMID: 6232474
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

Prognosis

Influence of Vitamin D on the Incidence of Metabolic Syndrome and Hormonal Balance in Patients with Polycystic Ovary Syndrome.
Lejman-Larysz K, Golara A, Baranowska M, Kozłowski M, Guzik P, Szydłowska I, Nawrocka-Rutkowska J, Sowińska-Przepiera E, Cymbaluk-Płoska A, Brodowska A
Nutrients 2023 Jun 29;15(13) doi: 10.3390/nu15132952. PMID: 37447279Free PMC Article
Updates on Molecular Targets and Epigenetic-Based Therapies for PCOS.
Smirnov VV, Beeraka NM, Butko DY, Nikolenko VN, Bondarev SA, Achkasov EE, Sinelnikov MY, Vikram PRH
Reprod Sci 2023 Mar;30(3):772-786. Epub 2022 Jun 28 doi: 10.1007/s43032-022-01013-x. PMID: 35764857
Are ovarian responses and the number of transferable embryos different in females and partners of male balanced translocation carriers?
Liu M, Bu Z, Liu Y, Liu J, Dai S
J Assist Reprod Genet 2022 Sep;39(9):2019-2026. Epub 2022 Aug 4 doi: 10.1007/s10815-022-02563-4. PMID: 35925537Free PMC Article
Coexistence of tooth agenesis and ovarian cancer - a systematic literature review.
Gawron-Jakubek W, Spaczynska J, Pitynski K, Loster BW
Ginekol Pol 2019;90(12):707-710. doi: 10.5603/GP.2019.0121. PMID: 31909464
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

Dysregulated Liver Metabolism and Polycystic Ovarian Syndrome.
Khan MS, Kim HS, Kim R, Yoon SH, Kim SG
Int J Mol Sci 2023 Apr 18;24(8) doi: 10.3390/ijms24087454. PMID: 37108615Free PMC Article
Updates on Molecular Targets and Epigenetic-Based Therapies for PCOS.
Smirnov VV, Beeraka NM, Butko DY, Nikolenko VN, Bondarev SA, Achkasov EE, Sinelnikov MY, Vikram PRH
Reprod Sci 2023 Mar;30(3):772-786. Epub 2022 Jun 28 doi: 10.1007/s43032-022-01013-x. PMID: 35764857
Diagnosis and Management of Infertility: A Review.
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
The ovary as an immune target.
Dunbar BS, Prasad S, Cariño C, Skinner SM
J Soc Gynecol Investig 2001 Jan-Feb;8(1 Suppl Proceedings):S43-8. doi: 10.1016/s1071-5576(00)00107-6. PMID: 11223372
Premature ovarian failure.
Vegetti W, Marozzi A, Manfredini E, Testa G, Alagna F, Nicolosi A, Caliari I, Taborelli M, Tibiletti MG, Dalprà L, Crosignani PG
Mol Cell Endocrinol 2000 Mar 30;161(1-2):53-7. doi: 10.1016/s0303-7207(99)00224-5. PMID: 10773392

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
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
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
Coexistence of tooth agenesis and ovarian cancer - a systematic literature review.
Gawron-Jakubek W, Spaczynska J, Pitynski K, Loster BW
Ginekol Pol 2019;90(12):707-710. doi: 10.5603/GP.2019.0121. PMID: 31909464
Ovarian Stimulation, Intrauterine Insemination, Multiple Pregnancy and Major Congenital Malformations: A Systematic Review and Meta- Analysis- The ART_Rev Study.
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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