title: Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios.
abstract: OBJECTIVE
  To present female pseudohermaphroditism in a prenatally diagnosed cloacal malformation.
  
  
  METHODS
  A 29-year-old, primigravid woman referred for counseling at 17 weeks of gestation because of oligohydramnios and an intra-abdominal cyst in the fetus. The woman was not exposed to any virilizing agent during this pregnancy. She did not undergo any assisted reproductive technology for this pregnancy. Level II ultrasound showed a singleton with fetal biometry equivalent to 16 weeks, oligohydramnios, hydrometrocolpos, dilated bladder, and bilateral hydronephrosis. A diagnosis of cloacal malformation was made. The parents elected to terminate the pregnancy at 18 weeks of gestation. A 196-g fetus was delivered with a distended abdomen, a phallus-like structure, a small perineal opening below the phallus-like structure, and an imperforate anus. At birth, the fetus was misdiagnosed as a male with an imperforate anus and a perineal fistula. Cytogenetic analysis of the cord blood revealed a karyotype of 46,XX. Array comparative genomic hybridization analysis of the fetal tissues revealed no genomic imbalance. The phallus-like structure was an enlarged clitoris and contained accessory phallic urethra.
  
  
  CONCLUSIONS
  Prenatal diagnosis of cloacal malformation with ambiguous genitalia should be paid attention to avoid misdiagnosis of a male with an imperforate anus and a perineal fistula. Cytogenetic analysis is helpful to determine the sex under such circumstances.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chen-Yu
authors.initials: CY
authors.lastname: Chen
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Obstetrics and Gynecology, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Jun-Wei
authors.initials: JW
authors.lastname: Su
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000175:diagnosis*; D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000025:Abortion, Eugenic; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002988:Cloaca / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D052202:Hydrocolpos / Q000000981:diagnostic imaging; D006869:Hydronephrosis / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D016104:Oligohydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D012732:Sex Determination Analysis; D016216:Ultrasonography, Prenatal
keywords: clitoris; cloacal malformation; female pseudohermaphroditism; prenatal diagnosis