Omphalocele, bifid scrotum, hypospadias and micropenis: clinical outcome in cases with normal karyotype

Abstract

Background. This study aims to describe the omphalocele, hypospadias, bifid scrotum and micropenis association characteristics, along with the care, prenatal diagnosis strategies and postnatal outcomes. We also present a case with this unusual association of malformations in a fetus with a normal male karyotype. Methodology. For this study, we present a case with detailed imaging and follow-up investigations before and after birth. Also, we searched the literature regarding the management of this complex malformation, and we present the review results. Results. According to literature, the following syndromes were linked to the spectrum of omphalocele-hypospadias: trisomy 13, trisomy 18, trisomy 21, 45X, 47XXY and 47XXX, Beckwith-Wiedemann syndrome, and 2q22.1q22.3 deletion. According to our complex investigations, the omphalocele, bifid scrotum, hypospadias and micropenis, in the case of our patient, were isolated, despite literature findings. In the absence of associated major structural or genetic abnormalities, the management was conservative, with a good outcome. Conclusions. Structural anomalies can often appear alone, spontaneously or in association with other structural anomalies as part of syndromes. According to the detailed prenatal and postnatal evaluation, micropenis-hypospadias and omphalocele associations were isolated in our case, despite the literature findings. Fetal growth and well-being should be monitored, as intrauterine fetal growth restriction may occur.