During sex reversal, GnRH2 expression levels increased significantly at late stages; however, expression levels of GnRH2-SV were lower in ovary than in ovotestis and testis.
Sequencing of exons 2-8 of the androgen receptor after study of testosterone precursors following human chorionic gonadotrophin stimulation is recommended when gonadal dysgenesis and true hermaphroditism can be excluded.
In a neonate with genital ambiguity due to ovotesticular DSD, testicular AMH and testosterone production respectively appear to account for the initial arrest of ovarian development and subsequent rapid hyperfunction of the contralateral ovary after ovotestis removal..
Inhibition of the Fallopian tube was attributed to a local influence of AMH from the Sertoli cells, as was the failure of small Graafian follicles within an ovotestis to respond to injected gonadotrophins.
We report mutational analysis of the RSPO1 gene in a 46,XX woman with true hermaphroditism, palmoplantar keratoderma, congenital bilateral corneal opacities, onychodystrophy, and hearing impairment.