Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease

Central hypogonadotropic hypogonadism (CHH) is an emerging pathological condition frequently associated with overweight, metabolic syndrome, diabetes, and midline defects. The genetic mechanisms involve mutations in at least twenty-four genes regulating GnRH neuronal migration, secretion, and activi...

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Published inInternational Journal of Endocrinology Vol. 2014; no. 2014; pp. 361 - 373-141
Main Authors Pignatti, Elisa, Vighi, Eleonora, Moriondo, Valeria, Marino, Marco, Simoni, Manuela
Format Journal Article
LanguageEnglish
Published Cairo, Egypt Hindawi Limiteds 01.01.2014
Hindawi Publishing Corporation
John Wiley & Sons, Inc
Hindawi Limited
Subjects
Age
Amenorrhea
Androgens
Brain
Congenital diseases
Cryptorchidism
Defects
Disease
Endocrinology
Females
Fertility
Genetic aspects
Gonadotropin releasing hormone
Hypogonadism
Hypothalamic-pituitary-adrenal axis
Hypothalamus
Infertility
Magnetic resonance imaging
Males
Menstruation
Mutation
Physiological aspects
Prenatal development
Puberty
Review
Risk factors
Sexes
Testosterone
Italy
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Summary:Central hypogonadotropic hypogonadism (CHH) is an emerging pathological condition frequently associated with overweight, metabolic syndrome, diabetes, and midline defects. The genetic mechanisms involve mutations in at least twenty-four genes regulating GnRH neuronal migration, secretion, and activity. So far, the mechanisms underlying CHH, both in prepubertal and in adulthood onset forms, remain unknown in most of the cases. Indeed, all detected gene variants may explain a small proportion of the affected patients (43%), indicating that other genes or epigenetic mechanisms are involved in the onset of CHH. The aim of this review is to summarize the current knowledge on genetic background of CHH, organizing the large amount of data present in the literature in a clear and concise manner, to produce a useful guide available for researchers and clinicians.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
Academic Editor: Michael Horowitz
ISSN:1687-8337
1687-8345
DOI:10.1155/2014/649154