Intrauterine Growth Retardation Associated with Precocious Puberty and Sertoli Cell Hyperplasia

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

doi:10.1055/s-0030-1252021

Hormone and Metabolic Research, Table of Contents

Horm Metab Res 2010; 42(9): 682-688
DOI: 10.1055/s-0030-1252021

Humans, Clinical

Intrauterine Growth Retardation Associated with Precocious Puberty and Sertoli Cell Hyperplasia

M. B. Lodish¹ , L. A. Gartner² , P. Albini² , G. Sabnis³ , A. Brodie³ , J. M. Meck⁴ , A. M. Meloni-Ehrig⁴ , S. Hill⁵ , E. Tsilou⁶ , V. A. Valera⁷ , B. A. Walter⁷ , M. J. Merino⁷ , C. A. Stratakis¹

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
²SUNY at Buffalo, School of Medicine, Children's Hospital of Buffalo, Buffalo, NY, USA
³Dept. of Pharmacology and Experimental Therapeutics University of Maryland, Baltimore, MD, USA
⁴Department of Cytogenetics, Quest Diagnostics Nichols Institute, Chantilly, VA, USA
⁵Department of Diagnostic Imaging, Clinical Center, National Institutes of Health, Bethesda, MD, USA
⁶Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda MD, USA
⁷Laboratory of Pathology, Center for Cancer Research National Cancer Institute Bethesda, MD, USA

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.

Key words

genetic syndrome - hyper androgenemia - disorder of puberty - testicular tumor - aromatase

Full Text

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Correspondence

Dr. M. B. Lodish

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