A case report of precocious puberty related to Rett syndrome and a literature review.

ABSTRACT

Rett syndrome is an X-linked dominant disorder, and the typical phenotype includes intractable epileptic seizures and severe mental retardation, in particular, a rapid regression in language and limited progress in psychomotor development. Premature breast and pubic hair development and advanced bone age are signs of precocious puberty (PP), defined as puberty occurring before 8 years of age in girls. There are rare reports about precious puberty associated with Rett syndrome. Herein, we report the case of a patient with Rett syndrome with precocious puberty. Her first signs of PP occurred 6 months prior to presentation (at 7.5 years old), and the laboratory measurements, including tests of bone age and gonadotropin-releasing hormone stimulation, were positive for PP. PP was controlled after treatment with leuprorelin 3.75 mg for one year. In addition, the genetic and phenotypic spectrum of previously reported cases of Rett syndrome with precocious puberty are reviewed and summarized.