A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism
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.................................................................................................................................. 4 GLOSSARY OF ABBREVIATIONS AND GENE NAMES .................................................... 6
منابع مشابه
A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism
.................................................................................................................................. 4 GLOSSARY OF ABBREVIATIONS AND GENE NAMES .................................................... 6
متن کاملA shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.
CONTEXT Delayed puberty (DP) is a common issue and, in the absence of an underlying condition, is typically self limited. Alhough DP seems to be heritable, no specific genetic cause for DP has yet been reported. In contrast, many genetic causes have been found for idiopathic hypogonadotropic hypogonadism (IHH), a rare disorder characterized by absent or stalled pubertal development. OBJECTIVE...
متن کاملA homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia.
CONTEXT The GnRH receptor plays a central role in regulating gonadotropin synthesis and release, and several mutations in the GNRHR gene have been reported in patients with idiopathic or familial forms of isolated hypogonadotropic hypogonadism (IHH). OBJECTIVE The objective of the study was to investigate whether partial loss-of-function mutations in the GnRH receptor might be responsible for...
متن کاملRole of basal and provocative serum prolactin in differentiating idiopathic hypogonadotropic hypogonadism and constitutional delayed puberty--a diagnostic dilemma.
BACKGROUND The prevalence of Idiopathic Hypogonadotropic Hypogonadism (IHH) is approximately 1 in 10,000 men. Objectives of this study were to evaluate the role of basal and stimulated serum prolactin in differentiating Constitutional Delayed Puberty (CDP) from IHH. METHODS This cross-sectional study was carried out at the Department of Diabetes and Endocrinology, Military Hospital, Rawalpind...
متن کاملPathology or normal variant: what constitutes a delay in puberty?
Puberty is a complex maturation process that begins during fetal life and persists until the acquisition of reproduction function. The fundamental event that activates puberty occurs in the hypothalamus. A complex neuron network stimulates GnRH secretion, which stimulates pituitary gonadotropin secretion and then gonadal steroid secretion. Pubertal delay is defined as the presentation of clinic...
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تاریخ انتشار 2015