Denys-Drash syndrome, Septated Vagina And Low Level Of Anti-mullerian Hormone In male neonate
Annals of Pediatric Endocrinology & Metabolism
;
: 100-103, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-58750
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Útero
/
Vagina
/
Colo do Útero
/
Síndrome de Denys-Drash
/
Diagnóstico Diferencial
/
Hormônio Antimülleriano
/
Transtorno 46,XY do Desenvolvimento Sexual
/
Genitália
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
/
Recém-Nascido
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2014
Tipo de documento:
Artigo
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