Incidental Finding of 46, XX-SRY Negative Karyotype and Bilateral Ovotestes in a Child with Normal Male Genitalia

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 631-640-Pediatric Endocrinology Case Reports: Disorders of Sexual Differentiation
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-637
Shruti A. Fadia*1, Robert Steckler1, Jennifer J.D. Morrissette2, Judy Pascasio1, Jinglan Liu3, Jean-Pierre de Chadarevian1 and Francesco De Luca4
1St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, 2University of Pennsylvania, Philadelphia, PA, 3St. Christopher's Hospital for Children, Philadelphia, PA, 4St Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA
Background: Ovotesticular disorder of sex development (DSD) is a rare condition defined by the presence of both ovarian and testicular tissue in the same individual. Most patients present in infancy with ambiguous genitalia. Rarely, patients with unambiguous genitalia may present in adolescence or adulthood with delayed puberty and infertility. Here, we report the case of a phenotypically unambiguous male who was incidentally diagnosed with ovotesticular DSD after presenting with scrotal pain.

Clinical Case: JB presented at age 4 7/12 years with intermittent right scrotal pain and swelling for one year. Physical exam showed scrotal swelling, but otherwise normal appearing male external genitalia (penile length, 3cm; fully descended gonads). Due to suspected testicular torsion, he underwent surgical exploration which revealed scrotal abscess and abnormal appearing right gonad. Karyotype from peripheral cells was obtained, and it was 46, XX, SRY negative. Subsequent gonadal biopsies revealed ovotestes bilaterally, with each gonad consisting of oocytes and stroma, Leydig cells and seminiferous tubules with Sertoli cells, but absent germ cells. Cytogenetic testing on scrotal skin and gonadal tissue was similarly 46, XX, SRY negative.  No uterus was identified on pelvic ultrasound. AMH level was 60 ng/mL (n 48-83.2 ng/mL). A short hCG stimulation test was performed. Pre-hCG studies showed prepubertal LH (0.06 IU/L, n 0.02-1.03 IU/L) and FSH (0.58 IU/L, n 0.25-1.92 IU/L), as well as undetectable testosterone (<2 ng/dL, n ≤12 ng/dL). Post-hCG studies showed testosterone of 58 ng/dL. 

JB is now 12 4/12 years. He has continued to have recurrent scrotal abscesses and cellulitis requiring surgical drainage and antibiotics. On exam, he has pubic hair (Tanner III), penile length of 6.1 cm, and right and left gonadal size of 6 mL and 4 mL respectively. Recent laboratory work-up revealed pubertal testosterone  (112 ng/dL, n 100-320 ng/dL) and LH (1.1 mIU/mL, n 0.2-5.0 mIU/mL), in addition to high FSH (11 mIU/mL, n 1.2-5.8 mIU/mL).

Conclusion: This represents a rare case of 46, XX, SRY negative, ovotesticular DSD with normal male genitalia and bilaterally descended ovotestes. Although our patient is scheduled to undergo gonadectomies in the near future, his persisting testicular function has enabled him to fully virilize pre- and perinatally, as well as to develop timely secondary sexual characteristics.

Nothing to Disclose: SAF, RS, JJDM, JP, JL, JPD, FD

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