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Lookup NU author(s): Dr Richard Quinton
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
© 2022 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group. Introduction: Congenital hypogonadotropic hypogonadism (CHH) is a genetic disorder of reproduction and development, characterized by deficient gonadotropin-releasing hormone (GnRH) secretion or action, affecting 1-in-4,000–15,000 males. Micropenis and undescended testes are cardinal features of antenatal GnRH deficiency and could indicate absent minipuberty in the first postnatal months. In this review, we outline the pathophysiology and clinical consequences of absent minipuberty and its implications for optimal approaches to the endocrine management of affected boys. Areas covered: Deficient GnRH activity during fetal development and neonatal-infancy phase of minipuberty accounts for the diminished mass of Sertoli cells and seminiferous tubules among CHH males, enduring impairment of reproductive function even during gonadotropin replacement in adult life. In overcoming this obstacle, several clinical studies of neonatal gonadotropin replacement have consistently shown positive results in inducing testicular development and correcting cryptorchidism. Expert opinion: A high index of clinical suspicion, combined with hormonal testing undertaken in the postnatal period of 1–4 months, can reliably confirm or refute the diagnosis of CHH. Timely identification of CHH in affected male infants (having characteristic “red flag’ developmental anomalies) opens up the possibility for gonadotropin replacement as a targeted therapy to restore the normal hormonal milieu of minipuberty. Further work is necessary in formulating optimal gonadotropin treatment regimens to be more widely adopted in clinical practice.
Author(s): Swee DS, Quinton R
Publication type: Review
Publication status: Published
Journal: Expert Review of Endocrinology and Metabolism
Year: 2022
Volume: 17
Issue: 1
Pages: 47-61
Online publication date: 27/12/2021
Acceptance date: 22/12/2021
ISSN (print): 1744-6651
ISSN (electronic): 1744-8417
Publisher: Taylor and Francis Ltd.
URL: https://doi.org/10.1080/17446651.2022.2023008
DOI: 10.1080/17446651.2022.2023008
