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Gonadotropin-Releasing Hormone Deficiency in the Human (Idiopathic Hypogonadotropic Hypogonadism and Kallmann’s Syndrome): Pathophysiological and Genetic Considerations

Reproductive Endocrine Unit of the Department of Medicine and the National Center for Infertility Research, Massachusetts General Hospital, Boston, Massachusetts 02114

I. Introduction

II. Ontogeny of Normal GnRH Secretion

A. Fetal life

B. Neonatal and childhood periods

C. Puberty

D. Adulthood

III. Historical Perspective

IV. Clinical Presentation of GnRH Deficiency

A. Congenital GnRH deficiency

B. Adult-onset GnRH deficiency

C. Variant or partial forms of GnRH deficiency

D. Associated anomalies in KS

E. Differential diagnosis

V. Approaches to Studying GnRH Secretion

A. Animal and in vitro studies

B. Human studies

VI. Patterns of GnRH Secretion in Men with GnRH Deficiency

VII. Patterns of GnRH Secretion in Women with GnRH Deficiency

VIII. Genetic Studies

IX. X-Linked Genes Controlling GnRH Secretion

A. Kallmann’s syndrome gene

B. Adrenal hypoplasia congenita (AHC) gene product

X. Autosomal Genes Controlling GnRH Secretion

A. The genetics of autosomal inheritance

B. GnRH gene

C. GnRH receptor gene

D. Other autosomal genes

XI. Conclusion