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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.
Hypoplastic labia majora
MedGen UID:
107566
Concept ID:
C0566899
Finding
Undergrowth of the outer labia.
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).
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).
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.
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.

Professional guidelines

PubMed

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
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free 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

Recent clinical studies

Etiology

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
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
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
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
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

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
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
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
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
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

Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
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
Wit JM, Hero M, Nunez SB
Nat Rev Endocrinol 2011 Oct 25;8(3):135-47. doi: 10.1038/nrendo.2011.161. PMID: 22024975
Raj SG, Talbert LM
Obstet Gynecol Annu 1984;13:261-73. PMID: 6232474

Prognosis

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
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
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
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754
Bale PM
Perspect Pediatr Pathol 1984 Spring;8(1):9-56. PMID: 6366733

Clinical prediction guides

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
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754
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
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

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
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
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
Gawron-Jakubek W, Spaczynska J, Pitynski K, Loster BW
Ginekol Pol 2019;90(12):707-710. doi: 10.5603/GP.2019.0121. PMID: 31909464
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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