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Table 1 Phenotypic description and previous clinical findings

From: Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

SampleID External genitalia Anatomy Gonads Additional clinical findings Other diagnostic tests
DSD01 female no uterus streak gonad on left side; no gonad on right primary amenorrhea; mixed germ cell tumor on right pelvis; tall stature; breast tannerIII 46,XY;elevated FSH、Testosterone and LH;normal PRL E2
DSD02-1 female no uterus bilateral ovary hypoplasia Primary amenorrhea; Bilateral ovarian yolk sac tumor 46,XY; Familia;elevated FSH,Testosterone and LH;normal PRL E2
DSD02-2 female no uterus bila. likely fallopian tube tissue primary amenorrhea; serous cystoma on right gonad; dysgerminoma on left gonad 46,XY; Familia;elevated FSH,Testosterone and LH;normal PRL E2
DSD03 male hypospadia no records no records 46,XY; SRY negative
DSD04 female small uterus normal gonad tissue primary amenorrhea; short stature; Dysplastic ears 46,XX
DSD05 male hypospadia; Genital hypoplasia two abdominal testes, normal testicular tissue no records 46,XX; SRY negative
DSD06 female no uterus;1/3vagina present; Fallopian tubes present ovary; Fallopian tube primary amenorrhea 46,XX; normal female hormonal profile
DSD07 male hypospadia no records no records 46,XY; aCGH
DSD08 male; micropenis Genital hypoplasia; hypospadia; 2 cm phallus two abdominal testes, normal testicular tissue no records 46,XX
DSD09-1 male; micropenis Genital hypoplasia; hypospadia; 1.8cmphallus, small scrotum normal testicular tissue no records 46,XY; Familia
DSD09-2 male Genital hypoplasia; hypospadia normal testicular tissue no records 46,XY; Familia
DSD10 male Genital hypoplasia; cavernosa no testes tissue;likely uterus tissue on pelvis no records 46,XX; SRY negative
DSD11 male; micropenis Fallopian tubes and small uterus; hypospadia; 1.5 cm phallus, small scrotum likely uterus tissue on pelvis no records 46,XX; SRY negative
DSD12 female small uterus normal gonad tissue primary amenorrhea 46,XX
DSD13 female no uterus bila.streak gonad primary amenorrhea 46,XY; elevated testosterone
DSD14 female no uterus ovotestis with Fallopian tube primary amenorrhea 46,XY; elevated testosterone; FISH
DSD15 ambiguous (raised female) small uterus, Genital hypoplasia streak gonad on right side; no gonad on left primary amenorrhea; 46,XY; deceased E2;elevated FSH
DSD16 female (clitorism) no uterus none found by ultrasound primary amenorrhea 46,XY; elevated testosterone; FISH
DSD17 female no uterus none found by ultrasound primary amenorrhea 46,XY
DSD18 female (labia minora hypertrophy) no uterus; blind vagina Partial gonadal dysgenesis primary amenorrhea 46,XY; elevated testosterone; FISH
DSD19 male Genital hypoplasia; hypospadia no uterus;no ovary; two abdominal testes; normal testicular tissue no records 46,XX; SRY negative; decreased E2, P, PRL, FISH; no testosterone
DSD20 female (clitorism) no uterus none found by ultrasound primary amenorrhea 46,XY; elevated testosterone; FISH; LH
DSD21 ambiguous (raised female) no uterus, ovary none found by ultrasound primary amenorrhea 46,XY