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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 456 - 466 (11page)
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초록· 키워드
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The proper development and coordination of the hypothalamic-pituitary-gonadal (HPG) axis are essential for normal reproductive competence. The key factor that regulates the function of the HPG axis is gonadotrophin-releasing hormone (GnRH). Timely release of GnRH is critical for the onset of puberty and subsequent sexual maturation. Misregulation in this system can result in delayed or absent puberty and infertility. Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are genetic disorders that are rooted in a GnRH deficiency but often accompanied by a variety of non-reproductive phenotypes such as the loss of the sense of smell and defects of the skeleton, eye, ear, kidney, and heart. Recent progress in DNA sequencing technology has produced a wealth of information regarding the genetic makeup of CHH and KS patients and revealed the resilient yet complex nature of the human reproductive neuroendocrine system. Further research on the molecular basis of the disease and the diverse signal pathways involved will aid in improving the diagnosis, treatment, and management of CHH and KS patients as well as in developing more precise genetic screening and counseling regime.
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등록된 정보가 없습니다.
참고문헌 (55)
참고문헌 신청
Maestre de San Juan A / 1856 / Falta total de los nerviosolfactorios con anosmia en un individuo en quien existia una atrofia congenita de los testiculos y miembro viril / Siglo Med 131:211
Kallmann FJ / 1944 / The genetic aspects of primary eunuchoidism / Am J Ment Defic 158:203~236
De Morsier G / 1963 / Olfacto-genital dysplasia / Pathol Biol (Paris) 11:1267~1272
Wierman ME / 2011 / Gonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive function / Front Neuroendocrinol 32:43~52
Forni PE / 2015 / GnRH, anosmia and hypogonadotropic hypogonadism: where are we? / Front Neuroendocrinol 36:165~177
Kallmann FJ / 1944 / The genetic aspects of primary eunuchoidism / Am J Ment Defic 158:203~236
De Morsier G / 1963 / Olfacto-genital dysplasia / Pathol Biol (Paris) 11:1267~1272
Wierman ME / 2011 / Gonadotropin-releasing hormone (GnRH) neuron migration: initiation, maintenance and cessation as critical steps to ensure normal reproductive function / Front Neuroendocrinol 32:43~52
Forni PE / 2015 / GnRH, anosmia and hypogonadotropic hypogonadism: where are we? / Front Neuroendocrinol 36:165~177
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