Premature ovarian failure

Definition:

Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins). The causes of POF can be categorized into genetic and environmental mechanisms. X chromosome defects such as Turner syndrome or trisomy X as well as many genes including BMP15 andFMR1 are associated with POF development. For the environmental causes, medical intervention including surgeries and chemotherapies may lead to POF. Autoimmune ovarian failure consists another large category of POF.

References:

[1]. Arnaud Lacombe, et al. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet. 2006 Jul;79(1):113-9. [Content Brief]

[2]. Baptiste Fouquet, et al. A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. Elife. 2017 Dec 12;6:e30490. [Content Brief]

[3]. Carolina Carlosama, et al. A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency. Hum Mol Genet. 2017 Aug 15;26(16):3161-3166. [Content Brief]

[4]. Dan Zhang, et al. Basonuclin 1 deficiency is a cause of primary ovarian insufficiency. Hum Mol Genet. 2018 Nov 1;27(21):3787-3800. [Content Brief]

[5]. Diana Lourenço, et al. Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med. 2009 Mar 19;360(12):1200-10. [Content Brief]

[6]. Elisa Di Pasquale, et al. Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab. 2006 May;91(5):1976-9. [Content Brief]

[7]. Emerson Barchi Cordts, et al. Genetic aspects of premature ovarian failure: a literature review. Arch Gynecol Obstet. 2011 Mar;283(3):635-43. [Content Brief]

[8]. Han Zhao, et al. Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet. 2008 Jun;82(6):1342-8. [Content Brief]

[9]. Jian Wang, et al. Mutations in HFM1 in recessive primary ovarian insufficiency. N Engl J Med. 2014 Mar 6;370(10):972-4. [Content Brief]

[10]. Karla L Bretherick, et al. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet. 2005 Aug;117(4):376-82. [Content Brief]

[11]. Liat de Vries, et al. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. J Clin Endocrinol Metab. 2014 Oct;99(10):E2129-32. [Content Brief]

[12]. M M França, et al. Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. Clin Genet. 2018 Feb;93(2):408-411. [Content Brief]

[13]. Natalia Felipe-Medina, et al. A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1. Elife. 2020 Aug 26;9:e56996. [Content Brief]

[14]. Paolo Beck-Peccoz, et al. Premature ovarian failure. Orphanet J Rare Dis. 2006 Apr 6;1:9. [Content Brief]

[15]. S Bione, et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998 Mar;62(3):533-41. [Content Brief]

[16]. S E Harris, et al. Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod. 2002 Aug;8(8):729-33. [Content Brief]

[17]. Saleh AlAsiri, et al. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest. 2015 Jan;125(1):258-62. [Content Brief]

[18]. Sandrine Caburet, et al. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014 Mar 6;370(10):943-949. [Content Brief]

[19]. Suixing Fan, et al. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Am J Hum Genet. 2021 Feb 4;108(2):324-336. [Content Brief]

[20]. Ting Guo, et al. Mutations in MSH5 in primary ovarian insufficiency. Hum Mol Genet. 2017 Apr 15;26(8):1452-1457. [Content Brief]

[21]. Ya-Xin Zhang, et al. XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. Clin Genet. 2019 Mar;95(3):442-443. [Content Brief]

[22]. Yingying Qin, et al. CSB-PGBD3 Mutations Cause Premature Ovarian Failure. PLoS Genet. 2015 Jul 28;11(7):e1005419. [Content Brief]

[23]. Yingying Qin, et al. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet. 2007 Sep;81(3):576-81. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.