Table I.
Clinical, anatomic, and genetic characteristics of 12 identified patients with 46,XY disorders of sex development
| Case | Sex of Rearing | External Genital Phenotype | Müllerian Structures | Wollfian Structures | Gonadal Position | Gonadal Histology | aCGH Results | Normal Genetic Testing |
|---|---|---|---|---|---|---|---|---|
| 1 | Female | Clitoromegaly, mild labial fusion, short UGS | Hemiuterus; vaginal duplication | No vas bilaterally | IA | Normal testes | Normal |
SRY NR5A1 WT1 DHH |
| 2 | Female | Normal clitoris, mild labial fusion, short UGS | None | None | IA | Dysgenetic gonads | Normal |
SRY AR WT1 SRD5A2 |
| 3 | Female | Clitoromegaly, labial fusion, short UGS | None | Normal | Inguinal | Testicular atrophy bilaterally | Normal | N.D. |
| 4 | Female | Clitoromegaly, labial fusion, UGS | Uterus, vagina | Normal | IA | Testicular atrophy bilaterally | N.D. | N.D. |
| 5 | Female | Mild clitoromegaly, mild labial fusion, short UGS | No uterus; vagina present | Normal | Inguinal | Fibrotic testes with germ cell hypoplasia | Normal | AR |
| 6 | Male | Perineal hypospadias, microphallus, penoscrotal transposition, bifid scrotum with right hypoplasia | Hemiuteru s; large vagina | Mixed | Left descended ; Right absent | Left testicular dysgenesis with absent right testis | N.D. | N.D. |
| 7 | Female | Severe clitoromegaly, no labial fusion | No uterus; short vagina | Normal | Inguinal | Right normal testis | Normal | N.D. |
| 8 | Female | Clitoromegaly, UGS | No uterus; short vagina | Unknown | Unknown | Unknown | N.D. | N.D. |
| 9 | Female | Clitoromegaly, labial fusion, UGS | No uterus; short vagina | Normal | IA | Dysgenetic testes | N.D. | AR |
| 10 | Male | Microphallus | No uterus; no vagina | Normal | Inguinal | Microtestes with paucity of germ cells | N.D. | N.D. |
| 11 | Female | Clitoromegaly, UGS | Hemiuteru s; vagina | Normal | IA | Right dysgenetic testis; left dysgenetic gonad | N.D. |
SRY NR5A1 WT1 DHH |
| Index Case(III-1) | Male | Clitoromegaly, UGS | None | Normal | Labioscrotal | Dysgenetic testes | Microdel (9q33.3) | NR5A1 |
aCGH, array comparative genomic hybridization; UGS, urogenital sinus; IA, intraabdominal; N.D., not done; SRY, sex-determining region Y; NR5A1, nuclear receptor subfamily 5 group A member 1; AR, androgen receptor; WT1, Wilms tumor 1; DHH, desert hedgehog; SRD5A2, 5α-reductase type 2 gene