Ann Pediatr Endocrinol Metab.  2014 Jun;19(2):100-103. 10.6065/apem.2014.19.2.100.

Denys-Drash syndrome, Septated Vagina And Low Level Of Anti-mullerian Hormone In male neonate

• Lee HJ
• Yeom JS
• Park JS
• Park ES
• Seo JH
• Lim JY
• Park CH
• Woo HO
• Youn HS

• KMID: 1803862
• DOI: http://doi.org/10.6065/apem.2014.19.2.100

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.

Keyword

Wilms tumor gene; Denys Drash Syndrome; Anti-Mullerian hormone

MeSH Terms

46, XY Disorders of Sex Development
Anti-Mullerian Hormone*
Cervix Uteri
Denys-Drash Syndrome*
Diagnosis, Differential
Female
Genitalia
Humans
Infant, Newborn*
Male
Uterus
Vagina*
Anti-Mullerian Hormone

Figure

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  Fig. 1 The external genitalia was characterized by hypospadias and cryptorchidism.

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  Fig. 2 Voiding cystography and simplified figure. (A) Voiding cystography showed double uterus. (B) Simplified figure of voiding cystography. B, bladder; V, vagina.

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  Fig. 3 Direct sequencing analyses of the WT1 gene. The patient had a known Asp464Asn missense mutation, which was reported as Asp396Asn mutation on the Human Gene Mutation Database.

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