Table 1 Phenotypic description and previous clinical findings
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 |