Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report.
Am J Med Genet A
; 179(2): 285-289, 2019 02.
Article
em En
| MEDLINE
| ID: mdl-30667571
ABSTRACT
We present a case of a Chinese child with X-linked Simpson-Golabi-Behmel syndrome (SGBS). To the best of our knowledge, this is the first report of 46,XY disorders of sex development (ambiguous genitalia, cryptorchidism, and uterus in the pelvis) in surviving SGBS patients. Other external anomalies included characteristic facial anomalies, overgrowth, macrocephaly, organomegaly, pectus excavatum, and cryptorchidism. It could be that the GPC3 gene mutation caused Leydig cell dysfunction in our patient. Disorders of sex development can be included as part of the clinical spectrum of SGBS.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Arritmias Cardíacas
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Transtornos do Desenvolvimento Sexual
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Criptorquidismo
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Doenças Genéticas Ligadas ao Cromossomo X
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Gigantismo
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Cardiopatias Congênitas
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Female
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Humans
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Infant
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
China