Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome

Table 1 Overview of DSD categories including example conditions [1, 2]

DSD category	Examples	Karyotype or implicated genes
Chromosomal DSD	Klinefelter’s syndrome	47,XXY and variants/mosaics
	Turner’s syndrome	45,X and variants/mosaics
	Ovotesticular DSD	46,XX/46,XY chimerism
46,XY DSD	Gonadal dysgenesis	DHH, SRY, NR5A1, NR0B1, WT1, SOX9, DMRT1, MAPK3K1
	Androgen insensitivity syndrome	AR
	Disorders of androgen biosynthesis	SRD5A2, STAR, CYP11A1, HSD3B2, CYP17A1
	Structural genitourinary anomalies	WNT4 (in Mayer-Rokitansky-Kuster-Hauser syndrome subset)
46,XX DSD	Disorders of ovarian development	SRY, RSPO1, SOX9, WNT4
46,XX DSD	Disorders of androgen excess	HSD3B2, CYP21A2, CYP11B1

ISSN: 1472-6823