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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

Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
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
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

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
Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
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
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
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Diagnosis

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
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
Aly J, Kruszka P
Curr Opin Pediatr 2022 Aug 1;34(4):447-460. Epub 2022 Jul 5 doi: 10.1097/MOP.0000000000001135. PMID: 35796656
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
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

Therapy

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
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
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
Legro RS, Brzyski RG, Diamond MP, Coutifaris C, Schlaff WD, Casson P, Christman GM, Huang H, Yan Q, Alvero R, Haisenleder DJ, Barnhart KT, Bates GW, Usadi R, Lucidi S, Baker V, Trussell JC, Krawetz SA, Snyder P, Ohl D, Santoro N, Eisenberg E, Zhang H; NICHD Reproductive Medicine Network
N Engl J Med 2014 Jul 10;371(2):119-29. doi: 10.1056/NEJMoa1313517. PMID: 25006718Free PMC Article
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Prognosis

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
Ishizuka B
Front Endocrinol (Lausanne) 2021;12:626924. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.626924. PMID: 33716979Free PMC Article
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
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
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

Clinical prediction guides

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
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
Juul A, Almstrup K, Andersson AM, Jensen TK, Jørgensen N, Main KM, Rajpert-De Meyts E, Toppari J, Skakkebæk NE
Nat Rev Endocrinol 2014 Sep;10(9):553-62. Epub 2014 Jun 17 doi: 10.1038/nrendo.2014.97. PMID: 24935122
Toniolo D, Rizzolio F
Semin Reprod Med 2007 Jul;25(4):264-71. doi: 10.1055/s-2007-980220. PMID: 17594607
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

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
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
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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