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Case Reports
. 2014 Apr-Jun;8(3-4):42-6.

Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences

Letizia Di Meglio  1 , Laura Letizia Mazzarelli  2 , Amedeo Boscaino  3 , Dino Cancemi  4 , Franco Morelli  5 , Maria Concetta Lonardo  2 , Valeria Lonardo  6 , Patrizia Friso  3 , Carmine Spampanato  7 , Maria Urciuoli  8 , Marialuisa Ventruto  9 , Valerio Ventruto  5
Affiliations
Case Reports

Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences

Letizia Di Meglio et al. J Prenat Med. 2014 Apr-Jun.

Abstract

Objective: the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism.

Results: the former case refers to a fetus of 13 weeks gestation with the three following prominent anomalies, observed by transonic scan and confirmed by autopsy: congenital megaurethra, anal atresia, single umbelical artery. The latter case refers to a fetus of 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karytype. The megaurethra was discovered by sonography at 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karyotype (Array-CGH, 1 Mb of resolution).

Methods: transonic scan, autopsy, karyotype, array-CGH.

Conclusions: the first prenatal cases of two genetic syndromes with megaurethra have been reported, concening respectively a fetus with Meckel syndrome and a fetus with femal pseudoermaphroditism. The latter was confirmed by both autopsy and the normal female 46,XX karyotype.

Keywords: Meckel syndrome; congenital megaurethra; female pseudoermaphroditism; prenatal diagnosis.

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Figures

Figure 1
Figure 1
Transonic scan: Stretched transonic unvascularized formation due to megalourethra.
Figure 2
Figure 2
Transversal scan of the fetal head: defect of occipital cranial vault from which protrudes meningoceles.
Figure 3
Figure 3
Abdominal transversal scan: megabladder and single umbilical artery.
Figure 4
Figure 4
Abdominal transverse scan: a median transonic non-vascularized formation protruding from lower part of abdomen can be ascribed to a megaurethra.
Figure 5
Figure 5
Histological features of the megaurethra.
Figure 6
Figure 6
Fetus showing dilated penis (on the left side) and ovary (arrows).
See this image and copyright information in PMC

References

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