open access

Vol 68, No 6 (2017)
Case report
Published online: 2017-10-12
Submitted: 2017-05-10
Accepted: 2017-06-25
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Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome

Malgorzata M. Pierzchlewska, Maciej G. Robaczyk, Ida Vogel
DOI: 10.5603/EP.a2017.0059
·
Pubmed: 29022642
·
Endokrynologia Polska 2017;68(6):692-696.

open access

Vol 68, No 6 (2017)
Case report
Published online: 2017-10-12
Submitted: 2017-05-10
Accepted: 2017-06-25

Abstract

Introduction: Kallmann syndrome (KS) is a rare, congenital disorder combining hypogonadotropic hypogonadism (HH) due to GnRH-deficiency with anosmia. Traditionally thought to require lifelong therapy it turns out to be a reversible condition in some patients. Case report: We present a case of a 22-year old man with absent puberty due to KS, in whom genetic testing revealed heterozygosity for a mutation in the PROK2 gene. Pubertal development and virilisation was achieved by using human chorionic gonadotropin (hCG) injections followed by testosterone replacement. During the follow-up we observed reversal of hypogonadism allowing discontinuation of testosterone treatment. Normalisation of testicular volume as well as gonadotropin and inhibin B levels through a 2-year postreversal period was seen. Conclusions: Treatment with hCG is effective in inducing pubertal development and may have advantage over testosterone replacement due to a potential of gonadal maturation. A regular assessment of testicular volume and biochemical surveillance including measuring of serum inhibin B and gonadotropins are necessary for a timely detection of reversal of GnRH deficiency.

Abstract

Introduction: Kallmann syndrome (KS) is a rare, congenital disorder combining hypogonadotropic hypogonadism (HH) due to GnRH-deficiency with anosmia. Traditionally thought to require lifelong therapy it turns out to be a reversible condition in some patients. Case report: We present a case of a 22-year old man with absent puberty due to KS, in whom genetic testing revealed heterozygosity for a mutation in the PROK2 gene. Pubertal development and virilisation was achieved by using human chorionic gonadotropin (hCG) injections followed by testosterone replacement. During the follow-up we observed reversal of hypogonadism allowing discontinuation of testosterone treatment. Normalisation of testicular volume as well as gonadotropin and inhibin B levels through a 2-year postreversal period was seen. Conclusions: Treatment with hCG is effective in inducing pubertal development and may have advantage over testosterone replacement due to a potential of gonadal maturation. A regular assessment of testicular volume and biochemical surveillance including measuring of serum inhibin B and gonadotropins are necessary for a timely detection of reversal of GnRH deficiency.
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Keywords

Kallmann syndrome, hCG treatment, reversal of hypogonadotropic hypogonadism

About this article
Title

Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome

Journal

Endokrynologia Polska

Issue

Vol 68, No 6 (2017)

Pages

692-696

Published online

2017-10-12

DOI

10.5603/EP.a2017.0059

Pubmed

29022642

Bibliographic record

Endokrynologia Polska 2017;68(6):692-696.

Keywords

Kallmann syndrome
hCG treatment
reversal of hypogonadotropic hypogonadism

Authors

Malgorzata M. Pierzchlewska
Maciej G. Robaczyk
Ida Vogel

References (13)
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