Albright, Eric A.

Cheng, Liang

Haddad, Nadine G.

Kaefer, Martin

Rink, Richard C.

Roth, Joshua D.

Urology Case Reports

IUPUIScholarWorks

lable at ScienceDirectUrology Case Reports 18 (2018) 26e28Contents lists avaiUrology Case Reportsjournal homepage: www.elsevier .com/locate/eucrPediatricsAn ovulating follicle presenting as a testicular mass in a teenagepatient with ovotesticular DSDJoshua D. Roth a, Nadine G. Haddad b, Eric A. Albright c, Liang Cheng d, Richard C. Rink a,Martin Kaefer a, *a Department of Urology, Section of Pediatric Urology, Riley Hospital for Children at IU Health, 702 Barnhill Drive, Suite 4230, Indianapolis, IN, 46202, USAb Department of Pediatrics, Section of Pediatric Endocrinology, Riley Hospital for Children at IU Health, 705 Riley Hospital Drive, Room 5960, Indianapolis,IN, 46202, USAc Department of Pathology & Laboratory Medicine, Section of Pediatric Pathology, Riley Hospital for Children at IU Health, 702 Barnhill Drive, Room 2536,Indianapolis, IN, 46202, USAd Department of Pathology & Laboratory Medicine, IU Health Pathology Laboratory, 350 West 11th Street, Room 4044, Indianapolis, IN, 46202, USAa r t i c l e i n f oArticle history:Received 28 November 2017Received in revised form12 January 2018Accepted 17 January 2018Available online 31 January 2018Keywords:Disorders of sexual differentiationOvotesticular DSDAdolescent urologyIntersex abnormalities1. IntroductionDisorders of sexual differentiation (DSD) occur when an in-congruity exists between a child's external genitalia, gonadal his-tology and chromosomal sex. Ovotesticular DSD (ODSD) represents5% of DSD.1 In an ovotestis, the testis is always central and the ovarypolar. There are three anatomic variants: Bilateral: Testis and ovary bilaterally, either separate or united asan ovotestis (30%) Unilateral: Testis or ovary on one side and a contralateralovotestis (50%) Lateral/Alternating: Testis and contralateral ovary (20%)1,2We report a child with histologically documented Alternating* Corresponding author.E-mail address: mkaefer@iupui.edu (M. Kaefer).https://doi.org/10.1016/j.eucr.2018.01.0122214-4420/© 2018 Published by Elsevier Inc. This is an open access article under the CCODSD who was later reclassiﬁed as having Unilateral ODSD after anovarian remnant produced a corpus luteum cyst.2. Case presentation2.1. Initial presentationA term infant with penoscrotal hypospadias and a right unde-scended testicle underwent genetic workup revealing 46XX/46XYchimerism (Fig. 1). Cystogram showed a smooth, adequate capacitybladder with a blind ending prostatic utricle. Pelvic ultrasoundconﬁrmed the presence of a prostatic utricle and identiﬁed anormal appearing left testis in the dependent hemiscrotumwith nogonad in the right hemiscrotum.At 12 months, diagnostic laparoscopy revealed a vas and well-developed vascular supply exiting a closed internal inguinal ringon the left. Contralaterally, an orange appearing gonad with acentral darker cystic area and a tubular structure resembling afallopian tube traveling towards a unicornuate uterus wereobserved. Right gonad frozen section revealed normal ovarian tis-sue. A left transscrotal incision was made, revealing a 3.5 cm gonadconsistent with normal testis and epididymis. It was noted to have awhitish appearance anteriorly with a darker appearance at thesuperior pole. Deep longitudinal biopsy frozen section revealednormal prepubertal testis in both segments (Fig. 2). Followingextensive discussion with pediatric endocrinology and cytoge-netics, the family elected to continue to raise the child as male.A right salpingo-oopherectomy and hysterectomy were per-formed. Pathology demonstrated a normal ovary and fallopian tubewith a hypoplastic uterus and normal endometrium for age. Leftgonad ﬁnal pathology conﬁrmed a normal prepubertal testis.At 18 months, he underwent an uncomplicated preputial islandﬂap hypospadias repair. After routine post-operative evaluations,he was followed by pediatric endocrinology annually.BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).Fig. 1. Genetic workup revealing 46XX/XY chimerism.J.D. Roth et al. / Urology Case Reports 18 (2018) 26e28 272.2. Post-pubertal presentationThe patient returned at age 17 with complaints of a 2-weekpainless scrotal mass. His testosterone level was 500 ng/dL at age14.5 years (normal 300e1000) but his FSH was elevated at 30.2,suggesting Sertoli cell impairment (normal 2e12). He was TannerStage V with a normal male phallus. His right hemiscrotum wasempty and the left testicle was palpable in the left hemiscrotum.There was a mass on the superior aspect of the testicle, making itappear bilobed. No gynecomastia was appreciated.Scrotal ultrasound demonstrated a 2.3 cm cystic lesion in thesuperior portion of the testicle with compressed testicular paren-chyma along the margins of the cystic lesion. The remainder of thetesticle appeared normal. AFP and bHCG were both normal.The patient was scheduled for a partial vs. radical orchiectomy.On the day of presentation, he reported mass resolution. Intra-operative ultrasound showed the cyst had decreased in size to 1.5cm. We performed a partial orchiectomy. Pathology demonstratednormal ovarian tissue. Tissue adjacent to the cyst was biopsied andpathology demonstrated normal testicular tissue (Fig. 3). He hasdone well following his partial gonadectomy.3. DiscussionGender assignment in patients with DSD is of critical impor-tance. Karyotyping and histologic conﬁrmation of testicular andovarian tissue help guide gender assignment, medical therapy andsurgical reconstructive options. Ninety percent of patients withDSD present at birth with external genitalia abnormalities,including microphallus, hypospadias, urogenital sinus, or cryptor-chidism. The rest have a post-pubertal presentation with gyneco-mastia, hematuria, inguinal hernias, primary amenorrhea, and/orinfertility.3In ODSD, ovotestes are the most frequently encountered gonad(44%), followed closely by ovaries (33%).4 Gonadal position istypically asymmetrical with ovotestes that are predominately testisdescended below the inguinal ring and predominantly ovarianusually above. Not surprisingly, Wolfﬁan structures are noted witha testicle and Mullerian structures next to an ovary the majority ofthe time.5The most common karyotype in ODSD is 46XX (70%); geneticchimerism with 46XX/46XY in 20%. Genetic aspects leading to thisdisorder remain largely unknown. Gene mapping to Yp1A1, whichFig. 2. Pathology slides from the initial operation. 2A: Right gonad demonstratingovarian tissue at 20X. 2B: Left lower gonad demonstrating testicular tissue at 20X. 2C:Left upper gonad demonstrating testicular tissue at 20X.Fig. 3. Pathology slides from post-pubertal operation. 3A: Left gonad demonstratingboth testicular and ovarian tissue at 4X. 3B: Left gonad demonstrating corpus albicans,the regressed form of the corpus luteum.J.D. Roth et al. / Urology Case Reports 18 (2018) 26e2828determines testicular development, has been found in males with46XX/46XY karyotype. This gene may be translocated in 46XX in-dividuals with ODSD.3A 22-year old phenotypic male presenting with an intra-testicular mass comprised of ovarian tissue has been reported.5 Ourcase is truly unique as our patient had histologically documentedAlternating ODSD as a newborn. Despite the apparent absence ofovarian tissue in the descended gonad, he was later found to havean ovarian remnant when the ovarian tissue formed a corpusluteum cyst, thus changing his classiﬁcation to Unilateral ODSD.This emphasizes the important point that gonadal biopsies in pa-tients with DSD may be prone to sampling errors.4. ConclusionODSD has a spectrum of phenotypic, histologic and karyotypicﬁndings. Careful documentation of gonadal histology with longi-tudinal biopsies is critical to informed gender assignment andmanagement of retained gonadal tissue. Our case underscores theneed for continued vigilance of gonadal tissue as patients maturethrough puberty because despite appropriate gonadal biopsy, smallareas of ovarian or testicular tissue can be missed.References1. Iqbal MZ, Jam MR, Saleem M, Ahmad M. True hermaphrodite: a case report. APSPJ Case Rep. 2011;2(2):16.2. Hughes W, Erickson CC, Fleischmann W, Ettledorf JN. True hermaphroditism;report of a case. J Pediatr. 1958;52(6):662e669.3. Montero M, Mendez R, Valverde D, Fernandez JL, Gomez M, Ruíz C. True her-maphroditism and normal male external genitalia: a rare presentation. ActaPaediatr. 1999;88(8):909e911.4. van Niekerk WA, Retief AE. The gonads of human true hermaphrodites. HumGenet. 1981;58(1):117e122.5. Ceci M, Calleja E, Said E, Gatt N. A case of true hermaphroditism presenting as atesticular tumour. Case Rep Urol. February 2015:1e3. https://doi.org/10.1155/2015/598138.

An ovulating follicle presenting as a testicular mass in a teenage patient with ovotesticular DSD

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