MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism

European Journal of Endocrinology
Andrew DwyerNelly Pitteloud

Abstract

Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of puberty and infertility. Traditionally, it has been considered a life-long condition yet cases of reversibility have been described wherein patients spontaneously recover function of the reproductive axis following treatment. Reversibility occurs in both male and female CHH cases and appears to be more common (~10-15%) than previously thought. These reversal patients span a range of GnRH deficiency from mild to severe and many reversal patients harbor mutations in genes underlying CHH. However, to date there are no clear factors for predicting reversible CHH. Importantly, recovery of reproductive axis function may not be permanent. Thus, CHH is not always life-long and the incidence of reversal warrants periodic treatment withdrawal with close monitoring and follow-up. Reversible CHH highlights the importance of environmental (epigenetic) factors such as sex steroid treatment on the reproductive axis in modifying the phenotype. This review provides an overview and an update on what is known about this phenomenon.

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Citations

Mar 23, 2017·The Journal of Clinical Endocrinology and Metabolism·Hélène Bry-GauillardJacques Young
Mar 16, 2018·Expert Review of Molecular Diagnostics·Csilla KrauszAntoni Riera-Escamilla
Apr 7, 2018·Nature Reviews. Urology·Csilla Krausz, Antoni Riera-Escamilla
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Jul 25, 2019·Frontiers in Endocrinology·Andrew A DwyerRichard Quinton
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Mar 12, 2021·Human Reproduction·Andrea SansoneJörg Gromoll
Apr 4, 2021·International Journal of Molecular Sciences·Francesca CioppiCsilla Krausz
Nov 24, 2021·Clinical Endocrinology·Channa N JayasenaRichard Quinton
Jan 1, 2022·Journal of Neuroendocrinology·Stephanie B Seminara, A Kemal Topaloglu

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