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Congenital Hypogonadotrophic Hypogonadism: Minipuberty and the Case for Neonatal Diagnosis

Lookup NU author(s): Dr Richard Quinton

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Abstract

Copyright © 2019 Swee and Quinton. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.Congenital hypogonadotrophic hypogonadism (CHH) is a rare but important etiology of pubertal failure and infertility, resulting from impaired gonadotrophin-releasing hormone secretion or action. Despite the availability of effective hormonal therapies, the majority of men with CHH experience unsatisfactory outcomes, including chronic psychosocial and reproductive sequelae. Early detection and timely interventions are crucial to address the gaps in medical care and improve the outlook for these patients. In this paper, we review the clinical implications of missing minipuberty in CHH and therapeutic strategies that can modify the course of disease, as well as explore a targeted approach to identifying affected male infants by integrating clinical and biochemical data in the early postnatal months.


Publication metadata

Author(s): Swee DS, Quinton R

Publication type: Review

Publication status: Published

Journal: Frontiers in Endocrinology

Year: 2019

Volume: 10

Issue: 97

Online publication date: 21/02/2019

Acceptance date: 01/02/2019

ISSN (electronic): 1664-2392

Publisher: Frontiers Media S.A.

URL: https://doi.org/10.3389/fendo.2019.00097

DOI: 10.3389/fendo.2019.00097


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