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

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 gestat...

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Bibliographic Details
Published in:Human reproduction (Oxford) 2002-03, Vol.17 (3), p.821-824
Main Authors: Mazza, V., Di Monte, I., Ceccarelli, P.L., Rivasi, F., Falcinelli, C., Forabosco, A., Volpe, A.
Format: Article
Language:English
Subjects:
Adult
Disorders of Sex Development - diagnostic imaging
Disorders of Sex Development - embryology
Disorders of Sex Development - etiology
Disorders of Sex Development - surgery
Female
Female pseudohermaphroditism
fetal gender
Humans
Luteoma - complications
Luteoma - pathology
Ovarian Neoplasms - complications
Ovarian Neoplasms - pathology
Pregnancy
Pregnancy Complications, Neoplastic
pregnancy luteoma
prenatal diagnosis
ultrasonography
Ultrasonography, Prenatal
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Summary: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.
ISSN:0268-1161
1460-2350
DOI:10.1093/humrep/17.3.821