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Ovarian dysgenesis 7(ODG7)

MedGen UID:
1648458
•Concept ID:
C4748263
•
Disease or Syndrome
Synonyms: ODG7; OVARIAN DYSGENESIS 7
 
Gene (location): MRPS22 (3q23)
 
Monarch Initiative: MONDO:0020857
OMIM®: 618117

Definition

Ovarian dysgenesis-7 (ODG7) is characterized by primary amenorrhea, delayed puberty, elevated gonadotropic hormones, and small uterus and ovaries. Ovarian histology shows fibrotic ovaries without follicles (Chen 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
Uterine hypoplasia
MedGen UID:
120575
•Concept ID:
C0266399
•
Congenital Abnormality
Underdevelopment of the uterus.
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
Delayed puberty
MedGen UID:
46203
•Concept ID:
C0034012
•
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
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
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
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 2.
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

Recent clinical studies

Etiology

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
Immune Dysfunction in Polycystic Ovary Syndrome.
Banerjee S, Cooney LG, Stanic AK
Immunohorizons 2023 May 1;7(5):323-332. doi: 10.4049/immunohorizons.2200033. PMID: 37195871Free PMC Article
Androgen-Secreting Ovarian Tumors.
Macut D, Ilić D, Mitrović Jovanović A, Bjekić-Macut J
Front Horm Res 2019;53:100-107. Epub 2019 Sep 9 doi: 10.1159/000494906. PMID: 31499493
Premature ovarian failure.
Neumannová H, Müllerová M
Cas Lek Cesk 2018 Dec 3;157(7):350-353. PMID: 30650978
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 2.
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

Diagnosis

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
Genetic control of typical and atypical sex development.
Reyes AP, León NY, Frost ER, Harley VR
Nat Rev Urol 2023 Jul;20(7):434-451. Epub 2023 Apr 5 doi: 10.1038/s41585-023-00754-x. PMID: 37020056
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
Androgen-Secreting Ovarian Tumors.
Macut D, Ilić D, Mitrović Jovanović A, Bjekić-Macut J
Front Horm Res 2019;53:100-107. Epub 2019 Sep 9 doi: 10.1159/000494906. PMID: 31499493
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 2.
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

Therapy

The Role of Inositols in the Hyperandrogenic Phenotypes of PCOS: A Re-Reading of Larner's Results.
Fedeli V, Catizone A, Querqui A, Unfer V, Bizzarri M
Int J Mol Sci 2023 Mar 27;24(7) doi: 10.3390/ijms24076296. PMID: 37047265Free 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
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
Environmental influences on ovarian dysgenesis - developmental windows sensitive to chemical exposures.
Johansson HKL, Svingen T, Fowler PA, Vinggaard AM, Boberg J
Nat Rev Endocrinol 2017 Jul;13(7):400-414. Epub 2017 Apr 28 doi: 10.1038/nrendo.2017.36. PMID: 28450750
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 2.
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

Prognosis

Pelvic masses after surgery for immature ovarian teratoma: A 10-year experience of Western China.
Xie S, Jia X, Li T, Xu Y, Wu W, Qiu Y, Yuan S, Peng X, Wang H
Medicine (Baltimore) 2022 Aug 5;101(31):e29727. doi: 10.1097/MD.0000000000029727. PMID: 35945757Free PMC Article
Germ Cell Tumors in Dysgenetic Gonads.
Piazza MJ, Urbanetz AA
Clinics (Sao Paulo) 2019;74:e408. Epub 2019 Nov 11 doi: 10.6061/clinics/2019/e408. PMID: 31721911Free PMC Article
The clinical features and reproductive prognosis of ovarian neoplasms with hyperandrogenemia: a retrospective analysis of 33 cases.
Shu S, Deng S, Tian JQ, Chen R, Sun JA, Yu Q, Zhu Liu F, Huang LR, Pan YL, Yang XJ, Fan BQ, Liu YH
Gynecol Endocrinol 2019 Sep;35(9):825-828. Epub 2019 Apr 16 doi: 10.1080/09513590.2019.1599855. PMID: 30990090
Ovarian Sertoli-Leydig cell tumors: a single institution experience and review of the literature.
Gressel GM, Buza N, Pal L
Eur J Gynaecol Oncol 2017;38(2):214-220. PMID: 29953783
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

1,25-Dihydroxyvitamin D3 alleviates hyperandrogen-induced ferroptosis in KGN cells.
Jiang Y, Yang J, Du K, Luo K, Yuan X, Hua F
Hormones (Athens) 2023 Jun;22(2):273-280. Epub 2023 Mar 8 doi: 10.1007/s42000-023-00439-5. PMID: 36884209Free 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
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
Pediatric appendicitis score.
Samuel M
J Pediatr Surg 2002 Jun;37(6):877-81. doi: 10.1053/jpsu.2002.32893. PMID: 12037754
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
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
Germ Cell Tumors in Dysgenetic Gonads.
Piazza MJ, Urbanetz AA
Clinics (Sao Paulo) 2019;74:e408. Epub 2019 Nov 11 doi: 10.6061/clinics/2019/e408. PMID: 31721911Free PMC Article
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

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