Abstract
Three infants with ambiguous genitalia and suspected ovotestes were given recombinant FSH to induce ovarian follicular development. The development of follicles in the gonadal tissue suggested the presence of ovarian tissue in two of the three infants. This method may provide a means to better characterize gonadal anatomy in patients affected by disorders of sex development (DSD). Sonographic information poststimulation provided parents with earlier and more specific education and support concerning the possible need for confirmative gonadal biopsy treatment options.
Highlights
Ovotesticular disorder of sex development (DSD) [1], formerly known as true hermaphroditism, is characterized by the presence of both ovarian and testicular tissue in the gonads of an individual
We report the use of FSH injections in three infants with suspected ovotestes to induce ovarian follicular development, both to determine if the patients would have a responsive ovarian component to their gonads and to enhance the use of sonography in assessing the presence and location of gonads
Using recombinant FSH to stimulate the development of sonographically identifiable follicles in ovotestes allowed us to establish the diagnosis of ovotesticular DSD earlier in two of our three cases
Summary
Ovotesticular disorder of sex development (DSD) [1], formerly known as true hermaphroditism, is characterized by the presence of both ovarian and testicular tissue in the gonads of an individual. The traditional approach to establishing a diagnosis of ovotesticular DSD has included history, physical examination, evaluation of chromosomes, sex steroid secretion, imaging of internal anatomy and laparoscopy as the gold standard of establishing the diagnosis. In the setting of ambiguous genitalia when no clear diagnosis has been established, even with elevated testosterone, ovotestis must be suspected. We report the use of FSH injections in three infants with suspected ovotestes to induce ovarian follicular development, both to determine if the patients would have a responsive ovarian component to their gonads and to enhance the use of sonography in assessing the presence and location of gonads
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