Abstract
Humans with hypogonadotropic hypogonadism (HH) manifest irreversible pubertal delay, infertility, and low serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH). Although the genetic basis of this condition is largely unknown, mutations have been identified in approximately 5-10% of HH patients. Mutations in the KAL gene (Kallmann syndrome) and the AHC gene (adrenal hypoplasia congenita/HH) cause X-linked recessive HH. Autosomal recessive HH may be brought about by mutations in the gonadotropin-releasing hormone receptor, leptin, and the leptin receptor genes. Isolated deficiencies of the gonadotropins FSH and LH are due to corresponding beta-subunit genes. PROP1 gene mutations lead to combined pituitary deficiency, and HESX gene mutations result in septo-optic dysplasia, both of which include HH. These identified gene mutations advance our understanding of normal hypothalamic-pituitary-gonadal function.
Copyright 2000 Wiley-Liss, Inc.
Publication types
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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DAX-1 Orphan Nuclear Receptor
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DNA-Binding Proteins / genetics
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Extracellular Matrix Proteins*
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Female
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Follicle Stimulating Hormone / blood
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Follicle Stimulating Hormone / deficiency
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Follicle Stimulating Hormone / genetics
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Genes, Homeobox
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Genes, Recessive
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Gonadotropins / deficiency*
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Homeodomain Proteins / genetics
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Humans
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Hypogonadism / blood
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Hypogonadism / diagnosis
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Hypogonadism / etiology
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Hypogonadism / genetics*
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Hypothalamo-Hypophyseal System / metabolism
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Kallmann Syndrome / genetics
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Leptin / genetics
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Luteinizing Hormone / blood
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Luteinizing Hormone / deficiency
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Luteinizing Hormone / genetics
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Male
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Mutation
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Nerve Tissue Proteins / genetics
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Receptors, LHRH / genetics
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Receptors, Retinoic Acid / genetics
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Repressor Proteins*
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Transcription Factors / genetics
Substances
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ANOS1 protein, human
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DAX-1 Orphan Nuclear Receptor
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DNA-Binding Proteins
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Extracellular Matrix Proteins
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Gonadotropins
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Homeodomain Proteins
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Leptin
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NR0B1 protein, human
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Nerve Tissue Proteins
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Prophet of Pit-1 protein
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Receptors, LHRH
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Receptors, Retinoic Acid
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Repressor Proteins
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Transcription Factors
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Luteinizing Hormone
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Follicle Stimulating Hormone