Contributed by Jennifer Harness, BS and Jennifer Picarsic, MD
The patient is a two-year-old male who presented for orchidopexy of the right undescended testis. The parents stated that the right testis may have been present in the scrotum on past well-child visits, but is not present on the most recent exam. The past medical history is noncontributory and the review of systems is negative. Physical exam reveals a left testis that is normal to palpation and present in the scrotum. The patient was schedule for surgery with exam under anesthesia to assess whether the right testis is palpable in the scrotum, with the plan of performing an orchidopexy if an undescended testis is present or an orchiectomy if a hypoplastic testis or a testicular nubbin is present.
Exam under anesthesia was significant for bilateral non-palpable testes with spermatic cord structures palpable on the left. Upon entering the abdomen, the right testis was found just inside the internal ring and the thickened right spermatic cord was intimately associated with a round-ligament-like structure which led to a uterus. After dissecting the uterus and Müllerian structures away from the spermatic cord and vessels, a right orchidopexy was performed. On the left side, the testis had descended as there was a patent processus vaginalis with vessels and vas deferens exited out through the left internal ring. There was more disticntion between the vas deferens and the uterus on the left as compared to the right. After obtaining additional informed consent from the mother, a right testicular biopsy was also performed after removal of the uterus and diagnostic laparoscopy with laparoscopic right orchidopexy.
The first specimen consisted of a diminutive gray-tan uterus with absent fallopian tubes measuring 2.0 x 1.0 x 0.6 cm with an open canal that narrowed at one end.
The testicular biopsy specimen measured 0.2 cm in greatest dimension and consisted of two fragments of gray-tan soft tissue.
The sections of uterus show an undulating flat cuboidal Müllerian-like lining overlying the endometrium and myometrium. The surrounding adventitia is composed of a loose fibrovascular tissue. No additional Müllerian structures are present.
The testicular biopsy is artifactually fragmented but shows a somewhat haphazard arrangement of seminiferous cords. While there are some areas where the cords have a more back-to-back arrangement, other areas have increased interstitial expansion between the cords with slight undulating shapes and decreased cord diameters for age. Some of the cords are round and dilated with luminal microliths. There is a well-developed collagenized tunica overlying one of the fragments without thinning or cellular penetration of malformed tubules into the fibrous tissue. There are no ovarian follicles or ovarian stroma seen. There is germ cell hypoplasia with less than 30% of the cords showing evidence of germ cells (expected for age >50% cords with at least one germ cell). There is an occasional binucleate germ cell noted. There is no evidence of hyperchromasia or other atypical features of the germ cells. OCT 3-4 and PLAP immunostains are negative. Immunohistochemical stain to further characterize the tubules and interstitium includes inhibin, which better highlights the undulating configuration of the cords and a few Leydig cells.
CYTOGENETICS AND OTHER STUDIES
Normal male microarray analysis (46,XY)
Serum testosterone, LH, FSH, sex hormone binding globulin and inhibin B: normal for age and gender Serum anti-mullerian hormone: 3.46 ng/mL (normal for male age 1-6 yrs: 87.3-243.8 ng/mL)