Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature.

The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY). Twenty-two cases with 46, XY DSD due to haploinsufficiency (nine missense variant, two copy number variation) have been previously reported.

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.

Introduction: Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is characterized by bladder distension without urinary tract obstruction, decreased or absent intestinal peristalsis and microcolon. Although the definitive cause remains unknown, changes in the ACTG2 gene are thought to be responsible for the intestinal and bladder hypoperistalsis.

Case Report: This female newborn with MMIHS had a c.