46,XY gonadal dysgenesis

Definition:

Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial GD with presence of testicular tissue. The phenotype of patients with 46,XY GD can vary from normal female to genital ambiguity to an undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified.

References:

[1]. Alexander Pearlman, et al. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. 2010 Dec 10;87(6):898-904. [Content Brief]

[2]. Anna Biason-Lauber, et al. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. Am J Hum Genet. 2009 May;84(5):658-63. [Content Brief]

[3]. Anu Bashamboo, et al. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. Hum Mol Genet. 2014 Jul 15;23(14):3657-65. [Content Brief]

[4]. Christa E Flück, et al. Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet. 2011 Aug 12;89(2):201-18. [Content Brief]

[5]. Claire Bastian, et al. Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis. Fertil Steril. 2015 May;103(5):1297-304. [Content Brief]

[6]. Federica Buonocore, et al. Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. J Endocr Soc. 2019 Oct 10;3(12):2341-2360. [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]. Marta Smyk, et al. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug;122(1):63-70. [Content Brief]

[9]. S Barbaux, et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet. 1997 Dec;17(4):467-70. [Content Brief]

[10]. Steven M Harrison, et al. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A. 2013 Oct;161A(10):2487-94. [Content Brief]

[11]. Timothy Antonius, et al. Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation. Am J Med Genet A. 2008 Feb 15;146A(4):496-9. [Content Brief]

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