Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty

Sasha R. Howard; Richard Quinton

doi:10.1515/jpem-2023-0407

Article

Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty

Sasha R. Howard and Richard Quinton

Published/Copyright: November 24, 2023

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 1

Abstract

Patients with congenital hypogonadism will encounter many health care professionals during their lives managing their health needs; from antenatal and infantile periods, through childhood and adolescence, into adult life and then old age. The pubertal transition from childhood to adult life raises particular challenges for diagnosis, therapy and psychological support, and patients encounter many pitfalls. Many patients with congenital hypogonadism and delayed or absent puberty are only diagnosed and treated after long diagnostic journeys, and their management across different centres and countries is not well standardised. Here we reconsider the management of pubertal delay, whilst addressing problematic diagnostic issues and highlighting the limitations of historic pubertal induction protocols – from the perspective of both an adult and a paediatric endocrinologist, dealing in our everyday work with the long-term adverse consequences to our hypogonadal patients of an incorrect and/or late diagnosis and treatment in childhood.

Keywords: delayed puberty; hypogonadotropic hypogonadism; Kallmann syndrome; congenital hypogonadism

Corresponding author: Dr. Richard Quinton, Translational & Clinical Research Institute, University of Newcastle, Newcastle-upon-Tyne, UK; and Newcastle Hospitals NHS Trust, Newcastle-upon-Tyne, UK, E-mail: richard.quinton@nhs.net

Funding source: Wellcome Trust

Award Identifier / Grant number: 222049/Z/20/Z

Funding source: Barts Charity

Award Identifier / Grant number: MGU0552

Acknowledgments

We would like to dedicate this review to Professor Richard Stanhope and Professor Leo Dunkel, inspirational mentors both.

Ethical approval: Not applicable.
Informed consent: Not applicable.
Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: The authors state no conflict of interest.
Research funding: None declared as this work was unfunded. However, Dr Howard has received funding from the Wellcome Trust, the National Institute for Health Research (NIHR), the Barts Charity and the Rosetrees Trust.
Data availability: Not applicable.

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Received: 2023-09-12

Accepted: 2023-11-07

Published Online: 2023-11-24

Published in Print: 2024-01-29

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Articles in the same Issue

https://doi.org/10.1515/jpem-2023-0407

Keywords for this article

delayed puberty; hypogonadotropic hypogonadism; Kallmann syndrome; congenital hypogonadism