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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.
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
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).
See: Feature record | Search on this feature
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.
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
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Professional guidelines

PubMed

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
Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment.
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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

Polycystic ovary syndrome: a "risk-enhancing" factor for cardiovascular disease.
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
Maternal and Fetal Risk Associated With Assisted Reproductive Technology.
Kawwass JF, Badell ML
Obstet Gynecol 2018 Sep;132(3):763-772. doi: 10.1097/AOG.0000000000002786. PMID: 30095760
Source and amount of carbohydrate in the diet and inflammation in women with polycystic ovary syndrome.
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
Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment.
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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

Polycystic ovary syndrome.
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
Polycystic ovary syndrome: a "risk-enhancing" factor for cardiovascular disease.
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
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
Polycystic ovary syndrome: definition, aetiology, diagnosis and treatment.
Escobar-Morreale HF
Nat Rev Endocrinol 2018 May;14(5):270-284. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.24. PMID: 29569621
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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

Therapy

Polycystic ovary syndrome: a "risk-enhancing" factor for cardiovascular disease.
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
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
Maternal and Fetal Risk Associated With Assisted Reproductive Technology.
Kawwass JF, Badell ML
Obstet Gynecol 2018 Sep;132(3):763-772. doi: 10.1097/AOG.0000000000002786. PMID: 30095760
Polycystic ovary syndrome.
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
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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

Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.
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
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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
Malignant ovarian germ-cell tumours.
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
Turner syndrome: contemporary thoughts and reproductive issues.
Reindollar RH
Semin Reprod Med 2011 Jul;29(4):342-52. Epub 2011 Oct 3 doi: 10.1055/s-0031-1280919. PMID: 21969268
Masculinizing ovarian tumors.
Ireland K, Woodruff JD
Obstet Gynecol Surv 1976 Feb;31(2):83-111. doi: 10.1097/00006254-197602000-00001. PMID: 1107904

Clinical prediction guides

Polycystic ovary syndrome: a "risk-enhancing" factor for cardiovascular disease.
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
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
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
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.
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
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

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
Prevalence of PCOS and related hyperandrogenic traits in premenopausal women with type 1 diabetes: a systematic review and meta-analysis.
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
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
Cabergoline for the prevention of ovarian hyperstimulation syndrome: systematic review and meta-analysis of randomized controlled trials.
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
Metformin treatment before and during IVF or ICSI in women with polycystic ovary syndrome.
Tso LO, Costello MF, Albuquerque LE, Andriolo RB, Freitas V
Cochrane Database Syst Rev 2009 Apr 15;(2):CD006105. doi: 10.1002/14651858.CD006105.pub2. PMID: 19370625

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      OMIM records containing genes associated with phenotypes registered in MedGen

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