Ovarian dysgenesis

Definition:

Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.

References:

[1]. Anlu Chen, et al. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet. 2018 Jun 1;27(11):1913-1926. [Content Brief]

[2]. Ariella Weinberg-Shukron, et al. A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. J Clin Invest. 2015 Nov 2;125(11):4295-304. [Content Brief]

[3]. David Zangen, et al. XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet. 2011 Oct 7;89(4):572-9. [Content Brief]

[4]. Elaine Doherty, et al. A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab. 2002 Mar;87(3):1151-5. [Content Brief]

[5]. Elisa Di Pasquale, et al. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet. 2004 Jul;75(1):106-11. [Content Brief]

[6]. F Fauchereau, et al. A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency. Clin Genet. 2016 May;89(5):603-7. [Content Brief]

[7]. Ieuan A Hughes, et al. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab. 2008 Feb;22(1):119-34. [Content Brief]

[8]. Mariarosaria Lang-Muritano, et al. Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2). J Clin Endocrinol Metab. 2018 Oct 1;103(10):3748-3756. [Content Brief]

[9]. Pola Smirin-Yosef, et al. A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. J Clin Endocrinol Metab. 2017 Feb 1;102(2):681-688. [Content Brief]

[10]. Sinéad M McGlacken-Byrne, et al. ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency. J Clin Endocrinol Metab. 2022 Jan 1;107(1):e254-e263. [Content Brief]

[11]. Yavuz Bayram, et al. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 May;100(5):E808-14. [Content Brief]

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