Abstract
The causes of abnormal pubertal development are numerous. Recent molecular investigation has increased our understanding of the genetic basis of pubertal disorders. Investigators have identified some of the genes that are critical for normal puberty and have begun to elucidate the genes and pathogenesis of genetic disorders associated with abnormal pubertal development. Identification of specific chromosomal abnormalities and gene mutations allows for diagnostic testing and enables the clinician to provide accurate counseling of the recurrence risk for relatives. In the future, knowledge of the genetic basis of these disorders will facilitate the development of novel therapies and approaches to the fertility assessment and treatment of individuals with pubertal disorders. Although great strides have been made in identifying these genes, questions remain. Why do some genetic mutations affect puberty differentially in males and females? What is the long-term impact in terms of future fertility, and what is the risk to the offspring of such patients? Further research is needed to address these issues and to identify additional genetic loci involved in pubertal development.
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