Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia.
Horm Metab Res
; 42(9): 682-8, 2010 Aug.
Article
en En
| MEDLINE
| ID: mdl-20411478
ABSTRACT
The original description of patients with Russell-Silver syndrome included precocious puberty, the mechanism of which was unclear. We describe a child with a Russell-Silver syndrome-like phenotype who presented with precocious puberty that was associated with hyperplasia of the Sertoli cells. The patient was found to have an immature cryptorchid testicle; hyperplastic Sertoli cells were also aneuploid carrying trisomy 8. This chromosomal abnormality was present in Sertoli cells only and could not be detected in peripheral lymphocytes, tunica vaginalis, or other, normal, testicular tissue. Sertoli cells in culture showed excess aromatization providing an explanation for the rapid advancement of the patient's bone age. We conclude that in a patient with a Russell-Silver syndrome-like phenotype, Sertoli cell hyperplasia was associated with somatic trisomy 8, increased aromatization, and gonadotropin-independent precocious puberty.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Pubertad Precoz
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Células de Sertoli
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Retardo del Crecimiento Fetal
Tipo de estudio:
Risk_factors_studies
Límite:
Female
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Humans
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Infant
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Male
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Newborn
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Pregnancy
Idioma:
En
Revista:
Horm Metab Res
Año:
2010
Tipo del documento:
Article
País de afiliación:
Estados Unidos