title: Denys-Drash syndrome, septated vagina and low level of anti-Mullerian hormone in male neonate.
abstract: There is a wide variety of genital abnormalities observed in patients with Denys-Drash syndrome (DDS). WT1 is thought to influence the genes related to genital development and mutations in this gene have been associated with DDS. DDS should be considered in the differential diagnosis of newborns with genital anomalies. In contrast to other conditions with 46,XY disorders of sex development, individuals with DDS often have duplicated genital organs (a double vagina, cervix or uterus). A double uterus has not yet been reported with 1390G>A (Arg464 Asn) mutation. However, duplicated genitals have been reported with other genetic mutations in patients with DDS. The duplicated genitals in DDS may be associated with low anti-Mullerian hormone (AMH) secretion. Measurement of the AMH levels may add to our understanding of variations in genital development and their abnormalities in disorders such as DDS. In conclusion, this is first case of low level of AMH and double uterus in 1390G>A (Arg464 Asn) mutations of DDS male.
authors: Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
authors: Hong Jun
authors: HJ
authors: Lee
authors: Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
authors: Jung-Sook
authors: JS
authors: Yeom
authors: Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
authors: Ji Sook
authors: JS
authors: Park
authors: Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
authors: Eun Sil
authors: ES
authors: Park
authors: Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
authors: Ji-Hyun
authors: JH
authors: Seo
authors: Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
authors: Jae Young
authors: JY
authors: Lim
authors: Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
authors: Chan-Hoo
authors: CH
authors: Park
authors: Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
authors: Hyang-Ok
authors: HO
authors: Woo
authors: Department of Pediatrics, Gyeongsang National University School of Medicine, Jinju, Korea.
authors: Hee-Shang
authors: HS
authors: Youn
keywords: Anti-Mullerian hormone; Denys Drash Syndrome; Wilms tumor gene