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Updated: Jun 13, 2026

Determination of Reproductive Competence by Confirming Pubertal Onset and Performing a Fertility Assay in Mice and Rats
06:38

Determination of Reproductive Competence by Confirming Pubertal Onset and Performing a Fertility Assay in Mice and Rats

Published on: October 13, 2018

Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia

M B Lodish1, L A Gartner, P Albini

  • 1Section 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

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme
|April 23, 2010
PubMed

Insights

This study details a child with Russell-Silver syndrome-like features and precocious puberty. The condition was linked to specific genetic and cellular changes in the testicles, explaining early development.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatric Endocrinology

Background:

  • Russell-Silver syndrome (RSS) is characterized by intrauterine and postnatal growth retardation, with some patients exhibiting precocious puberty.
  • The underlying mechanisms for precocious puberty in RSS have remained largely unexplained.

Observation:

  • A child with an RSS-like phenotype presented with precocious puberty and an immature cryptorchid testicle.
  • Hyperplastic Sertoli cells within the testicle were found to be aneuploid, specifically carrying trisomy 8.
  • This trisomy 8 mosaicism was confined to the Sertoli cells and not detected in other tissues.

Findings:

  • Sertoli cell hyperplasia was associated with somatic trisomy 8 mosaicism.
  • Cultured Sertoli cells demonstrated excess aromatization, indicating increased estrogen production.
  • These findings provide a mechanism for gonadotropin-independent precocious puberty.

Implications:

  • This research clarifies a potential mechanism for precocious puberty in Russell-Silver syndrome-like phenotypes.
  • Highlights the role of somatic chromosomal abnormalities in specific cell types and endocrine function.
  • Suggests that increased aromatase activity in hyperplastic Sertoli cells can drive early pubertal development.

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