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Ovarian dysgenesis 5(ODG5)

MedGen UID:
1627972
Concept ID:
C4540141
Disease or Syndrome
Synonyms: ODG5; OVARIAN DYSGENESIS 5
 
Gene (location): SOHLH1 (9q34.3)
 
Monarch Initiative: MONDO:0054666
OMIM®: 617690

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.
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
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.

Professional guidelines

PubMed

Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855

Recent clinical studies

Etiology

Guan C, Zahid S, Minhas AS, Ouyang P, Vaught A, Baker VL, Michos ED
Fertil Steril 2022 May;117(5):924-935. doi: 10.1016/j.fertnstert.2022.03.009. PMID: 35512976
Barrea L, Marzullo P, Muscogiuri G, Di Somma C, Scacchi M, Orio F, Aimaretti G, Colao A, Savastano S
Nutr Res Rev 2018 Dec;31(2):291-301. Epub 2018 Jul 23 doi: 10.1017/S0954422418000136. PMID: 30033891
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society
Endocr Pract 2015 Dec;21(12):1415-26. doi: 10.4158/EP15748.DSCPT2. PMID: 26642102
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855

Diagnosis

Hirschberg AL
J Clin Endocrinol Metab 2023 Apr 13;108(5):1243-1253. doi: 10.1210/clinem/dgac673. PMID: 36409990Free PMC Article
Joham AE, Norman RJ, Stener-Victorin E, Legro RS, Franks S, Moran LJ, Boyle J, Teede HJ
Lancet Diabetes Endocrinol 2022 Sep;10(9):668-680. Epub 2022 Aug 4 doi: 10.1016/S2213-8587(22)00163-2. PMID: 35934017
Guan C, Zahid S, Minhas AS, Ouyang P, Vaught A, Baker VL, Michos ED
Fertil Steril 2022 May;117(5):924-935. doi: 10.1016/j.fertnstert.2022.03.009. PMID: 35512976
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621

Therapy

Guan C, Zahid S, Minhas AS, Ouyang P, Vaught A, Baker VL, Michos ED
Fertil Steril 2022 May;117(5):924-935. doi: 10.1016/j.fertnstert.2022.03.009. PMID: 35512976
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Barrea L, Marzullo P, Muscogiuri G, Di Somma C, Scacchi M, Orio F, Aimaretti G, Colao A, Savastano S
Nutr Res Rev 2018 Dec;31(2):291-301. Epub 2018 Jul 23 doi: 10.1017/S0954422418000136. PMID: 30033891
Azziz R, Carmina E, Chen Z, Dunaif A, Laven JS, Legro RS, Lizneva D, Natterson-Horowtiz B, Teede HJ, Yildiz BO
Nat Rev Dis Primers 2016 Aug 11;2:16057. doi: 10.1038/nrdp.2016.57. PMID: 27510637
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855

Prognosis

Nelson L, Barnes BM, Tighe A, Littler S, Coulson-Gilmer C, Golder A, Desai S, Morgan RD, McGrail JC, Taylor SS
Chromosome Res 2023 Aug 17;31(3):21. doi: 10.1007/s10577-023-09731-x. PMID: 37592171Free PMC Article
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
Valor LM, Morales JC, Hervás-Corpión I, Marín R
Int J Mol Sci 2021 Aug 4;22(16) doi: 10.3390/ijms22168368. PMID: 34445074Free PMC Article
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855
Low JJ, Ilancheran A, Ng JS
Best Pract Res Clin Obstet Gynaecol 2012 Jun;26(3):347-55. Epub 2012 Feb 1 doi: 10.1016/j.bpobgyn.2012.01.002. PMID: 22301054

Clinical prediction guides

Guan C, Zahid S, Minhas AS, Ouyang P, Vaught A, Baker VL, Michos ED
Fertil Steril 2022 May;117(5):924-935. doi: 10.1016/j.fertnstert.2022.03.009. PMID: 35512976
Tokhunts K, Adamyan M, Chopikyan A, Kayfajyan K, Khudaverdyan A, Tumanyan A
Eur J Obstet Gynecol Reprod Biol 2022 May;272:116-122. Epub 2022 Mar 10 doi: 10.1016/j.ejogrb.2022.03.018. PMID: 35303673
Carson SA, Kallen AN
JAMA 2021 Jul 6;326(1):65-76. doi: 10.1001/jama.2021.4788. PMID: 34228062Free PMC Article
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855
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

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
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
Bayona A, Martínez-Vaello V, Zamora J, Nattero-Chávez L, Luque-Ramírez M, Escobar-Morreale HF
Hum Reprod Update 2022 Jun 30;28(4):501-517. doi: 10.1093/humupd/dmac011. PMID: 35237802
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
Leitao VM, Moroni RM, Seko LM, Nastri CO, Martins WP
Fertil Steril 2014 Mar;101(3):664-75. Epub 2013 Dec 18 doi: 10.1016/j.fertnstert.2013.11.005. PMID: 24360566

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