• PMID: 30055081
• Gene Name: SRY
• Condition: microphallus, hypospadias, bifid scrotum, exstrophic perineal tissue identified as a rectal duplication, lumbar vertebral anomalies, scoliosis, and a dysmorphic sacrum, epispadias with the urethral meatus close to the penopubic junction
• Association: Associated
• Mutation: SRY deletion
• Population size: 3
• Population details: 3 cases
• Sex: Male
• Infertility type: Male infertility

Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations

Roberts J, Lyalin D, Tosatto N, Rana P, Fadoul H, Welsh H, Zhang L, Cooley L, Repnikova E.

Ambiguous genitalia in the newborn can present a diagnostic challenge in medical practice. In most cases, the causes of genitourinary anomalies are not well understood; both genetic and environmental factors are thought to play a role. In this study, we report mosaic SRY gene deletion identified by fluorescence in situ hybridization (FISH) analysis in three unrelated newborn male patients with genital anomalies. G-banded chromosomes and microarray analysis were normal for all three patients. One patient had microphallus, hypospadias, bifid scrotum, exstrophic perineal tissue identified as a rectal duplication, lumbar vertebral anomalies, scoliosis, and a dysmorphic sacrum. The other two patients had isolated epispadias with the urethral meatus close to the penopubic junction. All three had bilateral palpable gonads in the scrotum. While this is the first report of mosaic SRY deletions, mosaic SRY sequence variants have been described in patients with variable genitourinary anomalies. This study identifies FISH analysis as a reliable method for mosaic SRY deletion detection. We suggest SRY FISH analysis should be used in the clinical workup of patients with genitourinary ambiguity. CI - © 2018 Wiley Periodicals, Inc. FAU - Roberts, Jennifer AU - Roberts J AD - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. FAU - Lyalin, Dmitry AU - Lyalin D AD - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. FAU - Tosatto, Norwood AU - Tosatto N AD - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. FAU - Rana, Pratibha AU - Rana P AD - Department of Pediatric Endocrinology, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. AD - Children's Mercy Hospital, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. FAU - Fadoul, Hiba AU - Fadoul H AD - Department of Pediatric Endocrinology, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. AD - Children's Mercy Hospital, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. FAU - Welsh, Holly AU - Welsh H AD - Children's Mercy Hospital, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. AD - Division of Clinical Genetics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. FAU - Zhang, Lei AU - Zhang L AD - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. AD - Children's Mercy Hospital, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. FAU - Cooley, Linda AU - Cooley L AD - Department of Pathology & Laboratory Medicine, Division of Clinical Laboratory Genetics & Genomics, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri. AD - Children's Mercy Hospital, The University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.