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Female infertility due to gonadal dysgenesis

MedGen UID:
1842697
•Concept ID:
C5680010
•
Disease or Syndrome
Synonyms: Rare female infertility due to gonadal dysgenesis; Rare female infertility due to ovarian dysgenesis
 
Orphanet: ORPHA399877

Professional guidelines

PubMed

Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group, Backeljauw PF
Eur J Endocrinol 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050. PMID: 38748847Free PMC Article
Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803

Recent clinical studies

Etiology

Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group, Backeljauw PF
Eur J Endocrinol 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050. PMID: 38748847Free PMC Article
Turner Syndrome and Fertility.
Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article
Turner syndrome: diagnosis and management.
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Diagnosis

Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, Maciel-Guerra AT, Gutmark-Little I, Fleischer K, Hong D, Klein KO, Prakash SK, Shankar RK, Sandberg DE, Sas TCJ, Skakkebæk A, Stochholm K, van der Velden JA; International Turner Syndrome Consensus Group, Backeljauw PF
Eur J Endocrinol 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050. PMID: 38748847Free PMC Article
The Changing Face of Turner Syndrome.
Gravholt CH, Viuff M, Just J, Sandahl K, Brun S, van der Velden J, Andersen NH, Skakkebaek A
Endocr Rev 2023 Jan 12;44(1):33-69. doi: 10.1210/endrev/bnac016. PMID: 35695701
Turner Syndrome: An Update.
Steiner M, Saenger P
Adv Pediatr 2022 Aug;69(1):177-202. Epub 2022 Jun 17 doi: 10.1016/j.yapd.2022.03.004. PMID: 35985709
Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Laparoscopy.
Gomel V
Can Med Assoc J 1974 Jul 20;111(2):167-9. PMID: 4276392Free PMC Article

Therapy

Turner Syndrome and Fertility.
Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699
Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article
Turner syndrome: diagnosis and management.
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142
Laparoscopy.
Gomel V
Can Med Assoc J 1974 Jul 20;111(2):167-9. PMID: 4276392Free PMC Article

Prognosis

Clinical dilemmas in ovarian tissue cryopreservation.
Dunlop CE, Anderson RA
Fertil Steril 2024 Oct;122(4):559-564. Epub 2024 May 31 doi: 10.1016/j.fertnstert.2024.05.167. PMID: 38825305
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Alkhunaizi E, Albrecht JP, Aarabi M, Witchel SF, Wherrett D, Babul-Hirji R, Dupuis A, Chiniara L, Chater-Diehl E, Shago M, Shuman C, Rajkovic A, Yatsenko SA, Chitayat D
Am J Med Genet A 2024 Mar;194(3):e63451. Epub 2023 Oct 26 doi: 10.1002/ajmg.a.63451. PMID: 37882230
Turner Syndrome and Fertility.
Viuff M, Gravholt CH
Ann Endocrinol (Paris) 2022 Aug;83(4):244-249. Epub 2022 Jun 18 doi: 10.1016/j.ando.2022.06.001. PMID: 35728697
Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
Fertility issues and pregnancy outcomes in Turner syndrome.
Calanchini M, Aye CYL, Orchard E, Baker K, Child T, Fabbri A, Mackillop L, Turner HE
Fertil Steril 2020 Jul;114(1):144-154. doi: 10.1016/j.fertnstert.2020.03.002. PMID: 32622407

Clinical prediction guides

45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Alkhunaizi E, Albrecht JP, Aarabi M, Witchel SF, Wherrett D, Babul-Hirji R, Dupuis A, Chiniara L, Chater-Diehl E, Shago M, Shuman C, Rajkovic A, Yatsenko SA, Chitayat D
Am J Med Genet A 2024 Mar;194(3):e63451. Epub 2023 Oct 26 doi: 10.1002/ajmg.a.63451. PMID: 37882230
Fertility issues and pregnancy outcomes in Turner syndrome.
Calanchini M, Aye CYL, Orchard E, Baker K, Child T, Fabbri A, Mackillop L, Turner HE
Fertil Steril 2020 Jul;114(1):144-154. doi: 10.1016/j.fertnstert.2020.03.002. PMID: 32622407
Genetics of primary ovarian insufficiency.
Rossetti R, Ferrari I, Bonomi M, Persani L
Clin Genet 2017 Feb;91(2):183-198. Epub 2016 Dec 12 doi: 10.1111/cge.12921. PMID: 27861765
Environmental factors and testicular function.
Giwercman A, Giwercman YL
Best Pract Res Clin Endocrinol Metab 2011 Apr;25(2):391-402. doi: 10.1016/j.beem.2010.09.011. PMID: 21397206
Turner's syndrome in dermatology.
Lowenstein EJ, Kim KH, Glick SA
J Am Acad Dermatol 2004 May;50(5):767-76. doi: 10.1016/j.jaad.2003.07.031. PMID: 15097963

Recent systematic reviews

Live birth rate after oocyte donation in females diagnosed with turner syndrome: a systematic review and meta-analysis.
Rashidian P, Parsaei M, Karami S, Sharifi TSS, Sadin Z, Salehi SA
BMC Pregnancy Childbirth 2024 Sep 18;24(1):605. doi: 10.1186/s12884-024-06801-8. PMID: 39294592Free PMC Article
Increased Risk of Aortic Dissection Associated With Pregnancy in Women With Turner Syndrome: A Systematic Review.
Hynes JS, Kuller JA, Goldstein SA, Ward CC, Muasher SJ
Obstet Gynecol Surv 2020 Sep;75(9):566-575. doi: 10.1097/OGX.0000000000000833. PMID: 32997149
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Fertility in disorders of sex development: A review.
Van Batavia JP, Kolon TF
J Pediatr Urol 2016 Dec;12(6):418-425. Epub 2016 Nov 3 doi: 10.1016/j.jpurol.2016.09.015. PMID: 27856173

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