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XY female

Tuesday 5 January 2010


- 46,XY female
- primary amenorrhea
- small immature uterus
- Mullerian derivatives (Fallopian tubes)
- gonadal dysgenesis


- SRY missense mutation affecting nuclear import (19513096)
- deletion upstream of NR0B1 (DAX1) (17503084)

  • Loss of regulatory sequences upstream of NR0B1 (DAX1) may result in position effect up-regulation of DAX1 expression, consistent with phenotypic consequences of NR0B1 duplication.

Nota bene: Genomic regions surrounding the dosage sensitive NR0B1 (DAX1), SRY, SOX9, SF1, and WNT4 genes, should be examined for copy-number variation in patients with sex reversal.

Nota bene: Deletion of the dosage sensitive gene NR0B1 encoding DAX1 on chromosome Xp21.2 results in congenital adrenal hypoplasia (AHC), whereas NR0B1 duplication in 46,XY individuals leads to gonadal dysgenesis and a female phenotype.


- A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. Hersmus R, de Leeuw BH, Stoop H, Bernard P, van Doorn HC, Brüggenwirth HT, Drop SL, Oosterhuis JW, Harley VR, Looijenga LH. Eur J Hum Genet. 2009 Dec;17(12):1642-9. PMID: 19513096

- Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Hum Genet. 2007 Aug;122(1):63-70. PMID: 17503084