Goldberg Shprintzen Syndrome: The Novel Association with Congenital Unilateral Anorchia (Monorchism)

Abstract

Background: Goldberg Shprintzen syndrome is a very rare autosomal recessive mental-growth retardation syndrome associated with characteristic facial dysmorphism, Hirschsprung disease, and a variety of neurological abnormalities, and abnormalities on brain imaging studies. However, the association of the syndrome with congenital unilateral absence of the testis (monorchism) has not been reported before. We have previously reported the thirty fourth and thirty fifth cases of the syndrome which occurred in Iraqi brothers, and described a novel therapeutic approach which was used to treat the younger brother. The aim of this paper is to report the novel association of Goldberg Shprintzen syndrome with congenital right monorchism. Patients and methods: T.A.S, the younger of two brothers with Goldberg Shprintzen syndrome was first seen at the age of four years and 10 months at the pediatric neuro-psychiatric clinic on the 29th of August, 2019. He had spastic right hemiparesis and was unable to walk alone, and was not saying any word and had characteristic facial features including hypertelorism, narrow palpebral fissures, open mouth, and laterally lifted ear. He also had neonatal intestinal obstruction which was attributed to Hirschsprung disease, and was treated surgically with resection and colostomy. The boy was treated successfully with novel therapeutic approach and experienced improvement in cognitive abilities, speech, and motor function, and after treatment was able to walk alone. Results: During July, 2021, the family reminded us that the child had single testis in the scrotum, and during early infancy an MRI study failed to find any second testis anywhere. An ultrasound was performed and showed normal left testis. However, the right testis could not found in the right hemi-scrotal sac nor with the right inguinal canal or within the abdomen. Thus, the ultrasound confirmed the earlier MRI findings which suggested congenital absence of the right testis (monorchism). Conclusion: This paper reported the novel association of Goldberg Shprintzen syndrome with monorchism, and this case represented the third case of congenital syndromic monorchism in the world.