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Human Reproduction, Vol. 17, No. 3, 821-824, March 2002
© 2002 European Society of Human Reproduction and Embryology

Prenatal diagnosis of female pseudohermaphroditism associated with bilateral luteoma of pregnancy: Case report

V. Mazza1,5, I. Di Monte1, P.L. Ceccarelli2, F. Rivasi4, C. Falcinelli3, A. Forabosco3 and A. Volpe1

1 Obstetric and Gynecology Unit, 2 Pediatric Surgery Unit and 3 Medical Genetics Unit, Department of Obstetric, Gynecologic and Pediatric Sciences and 4 Department of Morphological Sciences and Forensic Medicine, University of Modena and Reggio Emilia, Modena 41100, Italy

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.

Key words: Female pseudohermaphroditism/fetal gender/pregnancy luteoma/prenatal diagnosis/ultrasonography

5 To whom correspondence should be addressed at: Dip. Scienze Ostetriche, Ginecologiche e Pediatriche Sez. di Ginecologia e Ostetricia, Università degli Studi di Modena e Reggio Emilia, Via del Pozzo, 71 – 41100 Modena, Italy. E-mail: mazza{at}unimo.it

Submitted on June 7, 2001; resubmitted on September 7, 2001


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