Session: MON 631-640-Pediatric Endocrinology Case Reports: Disorders of Sexual Differentiation
Poster Board MON-637
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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