Document Detail

Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia.
MedLine Citation:
PMID:  20411478     Owner:  NLM     Status:  MEDLINE    
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.
M B Lodish; L A Gartner; P Albini; G Sabnis; A Brodie; J M Meck; A M Meloni-Ehrig; S Hill; E Tsilou; V A Valera; B A Walter; M J Merino; C A Stratakis
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural     Date:  2010-04-21
Journal Detail:
Title:  Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme     Volume:  42     ISSN:  1439-4286     ISO Abbreviation:  Horm. Metab. Res.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-28     Completed Date:  2010-12-02     Revised Date:  2012-09-26    
Medline Journal Info:
Nlm Unique ID:  0177722     Medline TA:  Horm Metab Res     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  682-8     Citation Subset:  IM    
Copyright Information:
Copyright Georg Thieme Verlag KG Stuttgart New York.
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.
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MeSH Terms
Aromatase / metabolism
Chromosome Banding
Fetal Growth Retardation / pathology*
Infant, Newborn
Magnetic Resonance Imaging
Puberty, Precocious / complications*
Sertoli Cells / pathology*
Grant Support
Z01-HD-000642-04/HD/NICHD NIH HHS; Z99 HD999999/HD/NICHD NIH HHS
Reg. No./Substance:
7732-18-5/Water; EC

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