SORA

Advancing, promoting and sharing knowledge of health through excellence in teaching, clinical practice and research into the prevention and treatment of illness

Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future

Kim, S-H (2015) Congenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and Future. Endocrinology and Metabolism, 30 (4). p. 456. ISSN 2093-596X https://doi.org/10.3803/EnM.2015.30.4.456
SGUL Authors: Kim, Soo-Hyun

[img]
Preview
PDF Published Version
Available under License Creative Commons Attribution Non-commercial.

Download (437kB) | Preview

Abstract

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.

Item Type: Article
Additional Information: Copyright © 2015 Korean Endocrine Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
SGUL Research Institute / Research Centre: Academic Structure > Institute of Medical & Biomedical Education (IMBE)
Academic Structure > Institute of Medical & Biomedical Education (IMBE) > Centre for Biomedical Education (INMEBE)
Journal or Publication Title: Endocrinology and Metabolism
ISSN: 2093-596X
Dates:
DateEvent
31 December 2015Published
Publisher License: Creative Commons: Attribution-Noncommercial 3.0
Projects:
Project IDFunderFunder ID
MR/L020378/1Medical Research Councilhttp://dx.doi.org/10.13039/501100000265
URI: https://openaccess.sgul.ac.uk/id/eprint/107942
Publisher's version: https://doi.org/10.3803/EnM.2015.30.4.456

Actions (login required)

Edit Item Edit Item