Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.
Primary ovarian insufficiency
genetic results
next generation sequencing
phenotype
Journal
Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997
Informations de publication
Date de publication:
01 Jul 2021
01 Jul 2021
Historique:
received:
19
08
2020
entrez:
7
6
2021
pubmed:
8
6
2021
medline:
8
6
2021
Statut:
epublish
Résumé
Primary ovarian insufficiency (POI) affects 1% of women under 40 years of age. POI is idiopathic in more than 70% of cases. Though many candidate genes have been identified in recent years, the prevalence and pathogenicity of abnormalities are still difficult to establish. Our primary objective was to evaluate the prevalence of gene variations in a large prospective multicentric POI cohort. Our secondary objective was to evaluate the correlation between phenotype and genotype. Two hundred and sixty-nine well-phenotyped POI patients were screened for variants of 18 known POI genes ( One hundred and two patients (38%) were identified as having at least 1 genetic abnormality. Sixty-seven patients (25%) presented at least 1 variant. Forty-eight patients presented at least 1 VUS (18%). Thirteen patients (5%) had combined abnormalities. In our study, a high percentage of patients presented gene variants detected by NGS analysis (38%). Every POI patient should undergo NGS analysis to improve medical cares of the patients.
Identifiants
pubmed: 34095689
doi: 10.1210/jendso/bvab032
pii: bvab032
pmc: PMC8169040
doi:
Types de publication
Journal Article
Langues
eng
Pagination
bvab032Informations de copyright
© The Author(s) 2021. Published by Oxford University Press on behalf of the Endocrine Society.
Références
Hum Mutat. 2016 Dec;37(12):1354-1362
pubmed: 27650058
Hum Reprod. 2016 May;31(5):926-37
pubmed: 27008889
Environ Health. 2017 Apr 7;16(1):37
pubmed: 28388912
J Clin Endocrinol Metab. 2014 Oct;99(10):E2129-32
pubmed: 25062452
Hum Mol Genet. 2016 Dec 1;25(23):5223-5233
pubmed: 27798098
Fertil Steril. 2015 Jul;104(1):154-62.e2
pubmed: 25989972
Cytogenet Cell Genet. 2000;89(1-2):44-50
pubmed: 10894934
N Engl J Med. 2009 Mar 19;360(12):1200-10
pubmed: 19246354
N Engl J Med. 2014 Mar 6;370(10):972-4
pubmed: 24597873
J Clin Endocrinol Metab. 2009 Nov;94(11):4540-6
pubmed: 19837940
Trends Endocrinol Metab. 2018 Nov;29(11):795-807
pubmed: 30078697
Hum Reprod. 2016 Aug;31(8):1913-25
pubmed: 27301361
Nat Clin Pract Endocrinol Metab. 2008 Feb;4(2):60-1
pubmed: 18030288
Nat Genet. 1993 Sep;5(1):83-6
pubmed: 8220432
Fertil Steril. 1993 Nov;60(5):852-7
pubmed: 8224270
J Clin Endocrinol Metab. 2016 Dec;101(12):4541-4550
pubmed: 27603904
J Clin Endocrinol Metab. 2015 Mar;100(3):994-1001
pubmed: 25514101
Endocr Rev. 2016 Dec;37(6):609-635
pubmed: 27690531
Hum Reprod. 2003 Jan;18(1):199-206
pubmed: 12525467
Hum Reprod. 2014 Aug;29(8):1818-27
pubmed: 24939957
Nucleic Acids Res. 2008 Jul;36(12):4181-90
pubmed: 18566005
BMC Womens Health. 2004 Oct 26;4(1):8
pubmed: 15507143
Eur J Endocrinol. 2008 Jan;158(1):107-15
pubmed: 18166824
Lancet. 2010 Sep 11;376(9744):911-21
pubmed: 20708256
Am J Hum Genet. 2007 Sep;81(3):576-81
pubmed: 17701902
Hum Reprod. 2015 May;30(5):1229-38
pubmed: 25712230
Hum Reprod. 2017 Jul 1;32(7):1512-1520
pubmed: 28505269
Hum Genet. 2019 Jan;138(1):83-92
pubmed: 30603774
Fertil Steril. 2016 Dec;106(7):1588-1599
pubmed: 27912889
J Clin Endocrinol Metab. 2007 Mar;92(3):991-9
pubmed: 17200175
Orphanet J Rare Dis. 2006 Apr 06;1:9
pubmed: 16722528
J Clin Endocrinol Metab. 2015 Jun;100(6):2154-7
pubmed: 25875778
Hum Reprod. 2010 Aug;25(8):2139-50
pubmed: 20570974
Fertil Steril. 2005 Jun;83(6):1843-4
pubmed: 15950662
N Engl J Med. 2014 Mar 6;370(10):943-949
pubmed: 24597867
Reprod Biomed Online. 2010 Jan;20(1):53-5
pubmed: 20158988
Hum Reprod. 2016 Apr;31(4):905-14
pubmed: 26911863
Hum Reprod. 2009 Oct;24(10):2636-41
pubmed: 19608567
PLoS Genet. 2015 Jul 28;11(7):e1005419
pubmed: 26218421
N Engl J Med. 1997 Aug 28;337(9):607-11
pubmed: 9271483
Neuro Oncol. 2018 Jun 18;20(7):917-929
pubmed: 29409008
Am J Hum Genet. 2004 Jul;75(1):106-11
pubmed: 15136966
J Mol Endocrinol. 2010 Nov;45(5):257-79
pubmed: 20668067
Hum Mol Genet. 2008 Dec 1;17(23):3776-83
pubmed: 18782852
J Clin Endocrinol Metab. 2017 Jul 1;102(7):2281-2290
pubmed: 28368522
Cell. 1995 Sep 22;82(6):959-68
pubmed: 7553856
J Clin Endocrinol Metab. 2014 Apr;99(4):E615-24
pubmed: 24438375
Menopause. 2005 Nov-Dec;12(6):749-54
pubmed: 16278619
Fertil Steril. 2009 Apr;91(4 Suppl):1507-9
pubmed: 18930203
Fertil Steril. 2008 Oct;90(4):1269-71
pubmed: 17953967
Hum Mutat. 2011 Oct;32(10):1108-13
pubmed: 21837770
Obstet Gynecol. 1986 Apr;67(4):604-6
pubmed: 3960433
Nat Genet. 2001 Feb;27(2):159-66
pubmed: 11175783
Hum Mutat. 2009 May;30(5):804-10
pubmed: 19263482
Reprod Toxicol. 2012 Jun;33(3):269-79
pubmed: 22281303
PLoS One. 2016 Dec 1;11(12):e0164638
pubmed: 27906970
Clin Genet. 2017 Feb;91(2):183-198
pubmed: 27861765
J Clin Endocrinol Metab. 2002 Feb;87(2):489-99
pubmed: 11836274
Am J Hum Genet. 2008 Jun;82(6):1342-8
pubmed: 18499083