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Female pseudohermaphroditism associated with luteoma of pregnancy (LP) is a rare condition characterized by varying degrees of masculinization of a female fetus. We describe a case, diagnosed at 13 weeks gestation. Transvaginal ultrasound at 5 weeks of gestation revealed a normal intrauterine gestational sac and an enlarged maternal right ovary. Re-examination at 13 weeks showed a fetus with male external genitalia. Cytogenetic investigation on amniotic fluid revealed a normal female karyotype 46,XX. Follow-up sonography confirmed the previous assignment of male external genitalia and a second amniocentesis was negative for the SRY gene. High levels of androgens were found in the maternal blood. A diagnosis of female pseudohermaphroditism associated with bilateral LP was made. A healthy girl was born by Caesarean section with complete masculinization of external genitalia (Prader V). Histology confirmed a bilateral LP. To the best of our knowledge this represents the first case of prenatal diagnosis of female pseudohermaphroditism associated with LP and demonstrates the feasibility of diagnosis by sonography from 13 weeks gestation. This is also the first case described of Prader V masculinization associated with LP.

Purpose: Bladder exstrophy has recently become one of the several congenital malformations detectable prenatally by fetal ultrasonography, which implies the necessity of a correct prognostic evaluation of quality of life on which therapeutic termination of pregnancy may depend within the temporal limits stated by the law. While maintaining a preeminently informative role, prenatal counseling has gained increasing relevance for the quality of life long-term prognosis in adults affected by bladder exstrophy, particularly in regard to urinary continence, and sexual and reproductive problems in male and female individuals. We report a case of bladder exstrophy diagnosed at 22 week of gestation, and comprehensively review the literature on prenatal diagnostic tools and procedures as well as long-term followup in such cases., Materials and Methods: At week 22 of gestation a woman underwent prognostic counseling due to the diagnosis of fetal bladder exstrophy made by prenatal ultrasound. After counseling the parents elected pregnancy termination. In addition, literature data were analyzed in regard to quality of life and bladder exstrophy., Results: We believe that the rarity of the prenatal diagnosis of this abnormality has resulted in the lack of a comprehensive review of necessary counseling criteria., Conclusions: We suggest what we consider to be a valid counseling approach for parents after a prenatal diagnosis of bladder exstrophy.