An Association Between Precocious Puberty and Fragile X Syndrome? - 11/11/12

Doi : 10.1016/S1083-3188(96)70031-1

C.L. Kowalczyk, M.D. ^1,^⁎, E. Schroeder, M.D. ¹, V. Pratt, Ph.D. ², J. Conard, M.S. ³, K. Wright, D.O. ⁴, G.L. Feldman, M.D., Ph.D. ^2,³
¹ Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, Wayne State University School of Medicine
² Medical Genetics and Birth Defects Center, Henry Ford Hospital
³ Department of Pediatrics, Division of Genetics and Metabolic Disorders, Children’s Hospital of Michigan, Wayne State University School of Medicine
⁴ Department of Adolescent Medicine, Children’s Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan

Address reprint requests to: Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, Hutzel Hospital, 4707 St. Antoine, Detroit, Michigan 48236.

Abstract

Study Objective

To determine the FMRl gene status in a 10-year, 10-nlonth-old girl with a history of precocious puberty and a family history of fragile X syndrome.

Design

Case report.

Setting

The outpatient facility of the Division of Adolescent Medicine and the Division of Genetic and Metabolic Disorders at Children’s Hospital of Michigan and the Medical Genetics and Birth Defects Center of Henry Ford Hospital, Detroit, Michigan.

Participant

A 10-year, 10-month-old girl with a history of precocious puberty.

Intervention

Evaluation for menorraghia, DNA extraction, and fragile X gene analysis of blood samples from the patient and her mother.

Main Outcome Measures

Identification of a full mutation in the FMR1 gene.

Results

Southern blot analysis of the FMR1 gene identified a full mutation in the daughter with approximately 750 repeats of the eGG sequence. Methylation studies showed that the full mutation was conlpletely methylated. FMRl DNA studies on her mother identified a premutation of approximately 100 repeats.

Conclusions

This report identifies a young girl with a history of precocious puberty and fragile X syndrome. It is also the first report of molecular genetic FMR1 studies in a female with precocious puberty. A possible association between the two conditions is suggested and warrants further investigation.

Le texte complet de cet article est disponible en PDF.

Keywords : Precocious puberty, Fragile X syndrome, FMRl gene