Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature.

Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature. Pediatr Endocrinol Rev. 2019 Dec;17(2):110-116 Authors: Kilberg MJ, McLoughlin M, Pyle LC, Vogiatzi MG Abstract Ovotesticular Differences in Sexual Development (OT-DSD) is a rare subset of DSD with great phenotypic variability characterized by the presence of both testicular and ovarian tissue in the same individual. Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved. Stemming from this case, we review the clinical presentation of OT-DSD throughout ages, the role of genetics and risk for gonadal tumors when making decisions about prophylactic gonadectomy. Finally, we summarize the most recent information of the spontaneous endocrine function, with or without conservative therapy, and fertility potential of people with OT-DSD. PMID: 31763803 [PubMed - in process]
Source: Pediatric Endocrinology Reviews - Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research