PMC4719899_01
Appearance of ambiguous genitalia at age 14 months. (A) Well-formed 2-3 cm clitorophallus, (B) severe chordee and minimal development of the genital folds, and (C) perineal hypospadias. Gonads were nonpalpable in the genital folds bilaterally.
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Genitourinary exam revealed Prader class 3 genitalia; nonpalpable gonads bilaterally, genital tubercle in the form of a clitorophallus measuring approximately 2.5 cm in length with severe chordee, and perineal hypospadias (Fig. 1).
PMC4719899_02
Schematic representation of genetic anomaly. (A) Ideogram of normal Y chromosome. (B) Ideogram of isodicentric Y chromosome variant idic(Y)q11.222. The breakpoint (arrow) was located at the q11.222 band of the long arm, with duplication of all short arm and proximal long arm material, and loss of all distal long arm material. SRY and TSPY1 loci are shown.
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An array-based SNP analysis confirmed that the isodicentric Y chromosome comprised an inverted duplication of the short arm, centromere, and the proximal part of the long arm to q11.222, with loss of the long arm distal to the q11.222 band (Fig. 2).
Intraoperative appearance and histopathologic findings. (A) Bilobular-appearing left gonad, with grossly testicular-appearing superior pole (arrow) and adipose/ovarian lower pole (arrowhead). (B) Well-formed Mullerian remnant consistent with a uterus. (C) Streak-appearing right gonad. All gonadal tissue was excised and sent for pathologic examination. Left gonad: (D) benign immature testicular tissue and (E) epididymal tissue. Right gonad: (F) benign immature ovarian tissue and (G) fallopian tube.
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Grossly, the left gonad had a dysgenetic bilobular appearance; the right gonad appeared underdeveloped (Fig. 3A-C). Pathologic examination of the left gonad revealed immature testicular and epididymal tissue (Fig. 3D and E). The right gonad showed benign immature ovarian tissue, benign fallopian tube, and benign immature epididymal tissue (Fig. 3F and G).