Hemiscrotal agenesis: a novel phenotype of a rare malformation

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Hemiscrotal agenesis: a novel phenotype of a rare malformation Mohamed Mansy1 , Mostafa Kotb2* , Yasmine Abdelmeguid3 , Shaymaa Raafat3

and Marwa Abdelaziz4

Abstract Background: Hemiscrotal agenesis (HSA) is an exceedingly rare congenital anomaly in scrotal development. It is characterized by unilateral absence of scrotal skin with intact midline raphe. In the English literature, only seven patients were diagnosed with HSA. Herein, we report a 14-month-old boy with HSA, unilateral cryptorchidism and a perineal skin tag. Additionally, the patient had a monodactylous limb, unilateral cerebellar hypoplasia, and a cardiac septal defect. Case presentation: A 14-month-old boy presented with right HSA and ectopic scrotal skin in the right perineal region. Extra-genital examination showed right monodactylous lower limb, without dysmorphic facial features or any other skeletal anomalies. His karyotype was 46, XY, while his hormonal profile showed prepubertal LH and FSH. Skeletal survey showed right monodactylous lower limb (with only a big toe which had 2 phalanges) and normal spine alignment. A previous echocardiography was done and showed a small muscular ventricular septal defect (VSD) that closed on follow-up. Magnetic resonance imaging of the brain showed posterior fossa malformation. The patient had his right testis fixed in the right scrotum. The pathological examination of the perineal lesion showed fibro-epithelial polyp (skin tag), with no testicular tissue or atypia. Conclusion: We believe that this is the first case to be reported with hemiscrotal agenesis and ipsilateral cryptorchidism, associated with a perineal skin tag, unilateral monodactylous lower limb on the same side, unilateral cerebellar hypoplasia, and VSD. Interestingly, further genetic analysis is required to reach a final diagnosis. However, regrettably, advanced molecular diagnostic studies for this patient is not available in our country. Keywords: Case report; Hemiscrotal agenesis; Monodactylous limb

Background Hemiscrotal agenesis (HSA) is a very rare congenital anomaly in scrotal development. It is characterized by unilateral absence of scrotal skin with intact midline raphe [1]. In the English literature, only seven patients were diagnosed with HSA [1–7]. Occasionally, this anomaly can be associated with extra-genital anomalies as a part of a syndrome, which supports the existence of a genetic background in these patients [2].

* Correspondence: [email protected] 2 Department of Pediatric Surgery, Alexandria Faculty of Medicine, 21615 Alexandria, Egypt Full list of author information is available at the end of the article

This anomaly is proposed to be due to primary failure of labioscrotal folds development or secondary to localized 5-alpha-reductase type 2 deficiency or androgen insensitivity [1, 2]. Herein, we report a 14-month-old boy with HSA, unilateral cryptorchidism and a perineal skin tag. Furthermore, the patient had a monodactylous limb, unilateral cerebellar hypoplasia, and a cardiac sept

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