Linked Life Data

20411478

Source:http://linkedlifedata.com/resource/pubmed/id/20411478

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2010-7-28
pubmed:abstractText
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.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1439-4286
pubmed:author
pubmed:copyrightInfo
Copyright Georg Thieme Verlag KG Stuttgart New York.
pubmed:issnType
Electronic
pubmed:volume
42
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
682-8
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia.
pubmed:affiliation
Section on Endocrinology Genetics, Program on Developmental Endocrinology Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development, and Pediatric Endocrinology Inter-Institute Training Program, National Institutes of Health, Bethesda, MD, USA. lodishma@mail.nih.gov
pubmed:publicationType
Journal Article, Case Reports, Research Support, N.I.H., Extramural