Ovotestis in Adolescence: 2 Case Reports

Abstract

We present 2 patients found to have ovotesticular disorder of sexual development (otDSD) in late adolescence. Two 15-year-old phenotypically male patients presented to a large pediatric hospital with different complaints: 1 with concern for testicular rupture after a straddle injury; 1 with gynecomastia. Further workup, including imaging and laboratory tests, was performed before surgical exploration. The first patient had unilateral ovotestis, contralateral testis, and SRY-negative 46,XX karyotype. The second patient with gynecomastia had unilateral ovotestis with hemi-uterus and fallopian tube, contralateral ovarian tissue, and 46,XX/47,XXY Klinefelter mosaic karyotype. Although rare, phenotypically normal male patients may present later with ovotesticular disorder of sexual development.

Figure 1

15-year-old phenotypic male who presented with testicular rupture. (A) Right testicular rupture with upper pole mass and hematocele. (B) After intravenous administration of ultrasound contrast there is marked peripheral enhancement of the right upper pole mass. The lower half of the testis does not demonstrate homogenous enhancement. (C) Intraoperative gross pathology demonstrating the abnormal round mass at the superior pole of the right testis (indicated by forceps). (D) Ovarian stroma with primary and secondary follicles (→), corpus luteum in upper left corner, and corpora albicans in the lower center, (4× magnification; Hematoxylin and eosin stain); inset: secondary follicle, (40× magnification; Hematoxylin and eosin stain)

Figure 2

15-year-old phenotypic male who presented with gynecomastia. (A) Longitudinal scan of the right testis demonstrates a cystic mass with fluid-fluid level contained within a cystic testis surrounded by a thin rim of normal appearing testicular parenchyma. (B) The left hemiscrotum is filled with a heterogenous mass. There are echogenic structures as well as small cysts. No normal testicular tissue is identified. (C) Fibrovascular stroma predominantly lined by ciliated columnar cells consistent with fallopian tube tissue, (4× magnification; Hematoxylin and eosin stain); inset: Higher power of ciliated columnar cell lining, (40× magnification; Hematoxylin and eosin stain) (D) Fibrous tissue with Sertoli-only seminiferous tubules (➜) and ovarian stroma with corpora albicans, primary follicles (→), (4× magnification; Hematoxylin and eosin stain); right upper inset: Higher power of primary follicles, (40× magnification; Hematoxylin and eosin stain); right lower inset: Higher power of Sertoli-only seminiferous tubules, (40× magnification; Hematoxlyin and eosin stain)