Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation
Annals of Pediatric Endocrinology & Metabolism
; : 111-115, 2013.
Article
em En
| WPRIM
| ID: wpr-178358
Biblioteca responsável:
WPRO
ABSTRACT
PURPOSE:
45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female adults. However, reports on the phenotype of this karyotype in children are very rare. This study was done to observe various phenotypes of this karyotype in children.METHODS:
Between January 2007 and December 2012, children diagnosed with 45,XY,t(13;14)(q10;q10) or 45,XX,t(13;14)(q10;q10) karyotype by chromosome analysis were analyzed retrospectively.RESULTS:
Eight children (5 boys and 3 girls) were diagnosed with 45,XY,t(13;14)(q10;q10) or 45,XX,t(13;14)(q10;q10) karyotype. They ranged in age from 5 years and 6 months to 12 years and 4 months. The phenotypes of the study patients consisted of 1 hypogonadotrophic hypogonadism, 1 precocious puberty, 3 early puberty, 2 growth hormone deficiency (GHD) (partial) and 1 idiopathic short stature. As shown here t(13;14)(q10;q10) Robertsonian translocation shows a wide range of phenotypes.CONCLUSION:
It can be said that t(13;14)(q10;q10) Robertsonian translocation shows various phenotypes from GHD to precocious puberty in children. Further large-scale studies are necessary.Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
/
Puberdade Precoce
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Translocação Genética
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Hormônio do Crescimento
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Puberdade
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Doenças do Sistema Endócrino
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Cariótipo
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Hipogonadismo
Limite:
Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2013
Tipo de documento:
Article
País de publicação:
COREA DEL SUR
/
COREIA DO SUL
/
KR
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SOUTH KOREA