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Premature ovarian failure 2A(POF2A)

MedGen UID:
336902
•Concept ID:
C1845293
•
Disease or Syndrome
Synonym: Premature Ovarian Failure 2a
 
Gene (location): DIAPH2 (Xq21.33)
 
Monarch Initiative: MONDO:0010350
OMIM®: 300511

Definition

Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene. [from MONDO]

Clinical features

From HPO
Premature ovarian insufficiency
MedGen UID:
9963
•Concept ID:
C0025322
•
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
See: Feature record | Search on this feature
Secondary amenorrhea
MedGen UID:
115919
•Concept ID:
C0232940
•
Disease or Syndrome
The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
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

Fragile X testing in obstetrics and gynaecology in Canada.
Chitayat D, Wyatt PR; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE; CANADIAN COLLEGE OF MEDICAL GENETICISTS PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2008 Sep;30(9):837-841. doi: 10.1016/S1701-2163(16)32949-8. PMID: 18845054
Breast cancer, pregnancy, and breastfeeding.
Helewa M, Lévesque P, Provencher D, Lea RH, Rosolowich V, Shapiro HM; Breast Disease Committee and Executive Committeee and Council, Society of Obstetricians and Gynaecologists of Canada
J Obstet Gynaecol Can 2002 Feb;24(2):164-80; quiz 181-4. PMID: 12196882

Recent clinical studies

Etiology

Erxian decoction alleviates cisplatin-induced premature ovarian failure in rats by reducing oxidation levels in ovarian granulosa cells.
Liu J, Yang Y, He Y, Feng C, Ou H, Yang J, Chen Y, You F, Shao B, Bao J, Guan X, Chen F, Zhao P
J Ethnopharmacol 2023 Mar 25;304:116046. Epub 2022 Dec 22 doi: 10.1016/j.jep.2022.116046. PMID: 36567042
Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases.
Tarín JJ, García-Pérez MA, Hamatani T, Cano A
Reprod Biol Endocrinol 2015 Apr 15;13:31. doi: 10.1186/s12958-015-0029-9. PMID: 25880215Free PMC Article
Fragile X testing in obstetrics and gynaecology in Canada.
Chitayat D, Wyatt PR; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE; CANADIAN COLLEGE OF MEDICAL GENETICISTS PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2008 Sep;30(9):837-841. doi: 10.1016/S1701-2163(16)32949-8. PMID: 18845054
Ovulation induction in premature ovarian failure: a placebo-controlled randomized trial combining pituitary suppression with gonadotropin stimulation.
van Kasteren YM, Hoek A, Schoemaker J
Fertil Steril 1995 Aug;64(2):273-8. doi: 10.1016/s0015-0282(16)57722-x. PMID: 7615102
Follicle-stimulating hormone beta gene structure in premature ovarian failure.
Layman LC, Shelley ME, Huey LO, Wall SW, Tho SP, McDonough PG
Fertil Steril 1993 Nov;60(5):852-7. doi: 10.1016/s0015-0282(16)56286-4. PMID: 8224270

Diagnosis

Fragile X testing in obstetrics and gynaecology in Canada.
Chitayat D, Wyatt PR; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE; CANADIAN COLLEGE OF MEDICAL GENETICISTS PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2008 Sep;30(9):837-841. doi: 10.1016/S1701-2163(16)32949-8. PMID: 18845054
Breast cancer, pregnancy, and breastfeeding.
Helewa M, Lévesque P, Provencher D, Lea RH, Rosolowich V, Shapiro HM; Breast Disease Committee and Executive Committeee and Council, Society of Obstetricians and Gynaecologists of Canada
J Obstet Gynaecol Can 2002 Feb;24(2):164-80; quiz 181-4. PMID: 12196882

Therapy

Erxian decoction alleviates cisplatin-induced premature ovarian failure in rats by reducing oxidation levels in ovarian granulosa cells.
Liu J, Yang Y, He Y, Feng C, Ou H, Yang J, Chen Y, You F, Shao B, Bao J, Guan X, Chen F, Zhao P
J Ethnopharmacol 2023 Mar 25;304:116046. Epub 2022 Dec 22 doi: 10.1016/j.jep.2022.116046. PMID: 36567042
Infertility etiologies are genetically and clinically linked with other diseases in single meta-diseases.
Tarín JJ, García-Pérez MA, Hamatani T, Cano A
Reprod Biol Endocrinol 2015 Apr 15;13:31. doi: 10.1186/s12958-015-0029-9. PMID: 25880215Free PMC Article
Fragile X testing in obstetrics and gynaecology in Canada.
Chitayat D, Wyatt PR; SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE; CANADIAN COLLEGE OF MEDICAL GENETICISTS PRENATAL DIAGNOSIS COMMITTEE
J Obstet Gynaecol Can 2008 Sep;30(9):837-841. doi: 10.1016/S1701-2163(16)32949-8. PMID: 18845054
Ovulation induction in premature ovarian failure: a placebo-controlled randomized trial combining pituitary suppression with gonadotropin stimulation.
van Kasteren YM, Hoek A, Schoemaker J
Fertil Steril 1995 Aug;64(2):273-8. doi: 10.1016/s0015-0282(16)57722-x. PMID: 7615102
Combined GnRH-agonist/gonadotrophin stimulation for in-vitro fertilization.
Schmutzler RK, Reichert C, Diedrich K, Wildt L, Diedrich C, Al-Hasani S, van der Ven H, Krebs D
Hum Reprod 1988 Oct;3 Suppl 2:29-33. doi: 10.1093/humrep/3.suppl_2.29. PMID: 2976414

Prognosis

Breast cancer, pregnancy, and breastfeeding.
Helewa M, Lévesque P, Provencher D, Lea RH, Rosolowich V, Shapiro HM; Breast Disease Committee and Executive Committeee and Council, Society of Obstetricians and Gynaecologists of Canada
J Obstet Gynaecol Can 2002 Feb;24(2):164-80; quiz 181-4. PMID: 12196882

Recent systematic reviews

Brain-derived neurotrophic factor (BDNF) expression and function in the mammalian reproductive Tract.
Chow R, Wessels JM, Foster WG
Hum Reprod Update 2020 Jun 18;26(4):545-564. doi: 10.1093/humupd/dmaa008. PMID: 32378708

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      Clinical tests in GTR
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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