The genetics of hypogonadotropic hypogonadism

Balasubramanian Bhagavath, Lawrence C Layman

Research output: Contribution to journalReview article

42 Citations (Scopus)

Abstract

An up-to-date review of the genetic aspects of idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS) is presented. Because proper development of the neuroendocrine axis must occur for normal puberty and reproductive function, gonadotropin-releasing hormone (GnRH) neuron migration is outlined first, followed by an introduction to the in vitro analysis of GnRH neuron migration. The normal hypothalamic-pituitary-gonadal (HPG) axis at different ages is discussed, along with a brief overview of normal and delayed puberty in both boys and girls. The phenotype of IHH/KS is discussed in detail, with its relation to Mendelian inheritance and chromosomal translocations. The molecular basis of IHH/KS is reviewed, with particular emphasis on the three most common genes (KAL1, FGFR1, and GNRHR) that possess mutations in these patients. However, all other known genes for which mutations occur are also addressed briefly. The goal of this review is to provide a comprehensive discussion of IHH/KS, and to include both basic science and clinical findings that should allow a more complete understanding of hypothalamic-pituitary neuroendocrinology that is important in puberty and reproduction.

Original languageEnglish (US)
Pages (from-to)272-286
Number of pages15
JournalSeminars in Reproductive Medicine
Volume25
Issue number4
DOIs
StatePublished - Jul 1 2007

Fingerprint

Kallmann Syndrome
Hypogonadism
Puberty
Gonadotropin-Releasing Hormone
Neuroendocrinology
Delayed Puberty
Neurons
Genetic Translocation
Mutation
Genes
Reproduction
Phenotype
Idiopathic Hypogonadotropic Hypogonadism

Keywords

  • Genetics
  • Hypogonadism
  • Puberty

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Reproductive Medicine
  • Endocrinology
  • Obstetrics and Gynecology
  • Physiology (medical)

Cite this

The genetics of hypogonadotropic hypogonadism. / Bhagavath, Balasubramanian; Layman, Lawrence C.

In: Seminars in Reproductive Medicine, Vol. 25, No. 4, 01.07.2007, p. 272-286.

Research output: Contribution to journalReview article

Bhagavath, Balasubramanian ; Layman, Lawrence C. / The genetics of hypogonadotropic hypogonadism. In: Seminars in Reproductive Medicine. 2007 ; Vol. 25, No. 4. pp. 272-286.
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