Male hypogonadotropic hypogonadism in various genetic disorders

Niedobylski Sylwiusz, Laszczak Katarzyna, Warchoł Konrad, Marczak Aleksandra, Dobosz Maciej, Lewicki Marcin, Obel Ewa. Male hypogonadotropic hypogonadism in various genetic disorders. Journal of Education, Health and Sport. 2020;10(9):143-160. eISSN 2391-8306. DOI http://dx.doi.org/10.12775/JEHS.2020.10.09.017

https://apcz.umk.pl/czasopisma/index.php/JEHS/article/view/JEHS.2020.10.09.017

https://zenodo.org/record/4017958

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© The Authors 2020;

This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland

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Received: 10.08.2020. Revised: 15.08.2020. Accepted: 07.09.2020.

Male hypogonadotropic hypogonadism in various genetic disorders

Sylwiusz Niedobylski (1); https://orcid.org/0000-0001-7266-623X; sniedobylski@gmail.com

Katarzyna Laszczak (1); https://orcid.org/0000-0002-5084-0273; kasia.laszczak19@gmail.com

Konrad Warchoł (1); https://orcid.org/0000-0001-9467-680X; konrad.wrh@gmail.com

Aleksandra Marczak (1); https://orcid.org/0000-0001-5950-3567; ola.marczak98@gmail.com

Maciej Dobosz (1); https://orcid.org/0000-0002-4413-3310; macdob.98@gmail.com

Marcin Lewicki (2); https://orcid.org/0000-0003-1906-9326; lewicki-marcin@wp.pl

Ewa Obel (2); https://orcid.org/0000-0003-2961-8843; obel.ewa@wp.pl

(1) Studenckie Koło Naukowe przy Klinice Endokrynologii, Samodzielny Publiczny Szpital Kliniczny nr 4 w Lublinie, ul. Jaczewskiego 8 20-954 Lublin

(2) Klinika Endokrynologii, Samodzielny Publiczny Szpital Kliniczny nr 4 w Lublinie, ul. Jaczewskiego 8 20-954 Lublin

Abstract

Introduction and purpose: Male hypogonadism is diagnosed in patients with total testosterone under 9-12nmol/L (250-350ng/dl) in serum which is associated with numerous symptoms which can severely lower the quality of patients life. Due to the cause and associated levels of gonadotropins it can be divided to hypergonadotropic and hypogonadotropic hypogonadism. Hypogonadotropic hypogonadism occurs far less often, but it’s considered to remain underdiagnosed. The purpose of this study is to review most of the inborn diseases that involve hypogonadotropic hypogonadism as one of their components.

Current state of knowledge: Patients with Kallmann syndrome constitute the majority of confirmed hypogonadotropic hypogonadism cases, however due to variable epidemiological data and differing diagnosing processes the exact incidence cannot be estimated – it ranges from 1 in 85 000, to 1 in 5000 males and about 3-4 times less often in women. Other conditions that can occur with hypogonadotropic hypogonadism are Isolated Gonadotropin-Releasing Hormone deficiency, Gonadotropin disorders, Prader-Willi Syndrome, some pleiotropic syndromes like CHARGE syndrome, Patau syndrome, Pfeiffer syndrome, Hartsfield syndrome, Waardenburg syndrome, Bardet-Biedl syndrome, or other syndromes. The evaluation and treatment of some of these conditions does not involve hypogonadism or other gonadal disorders due to short lifespan, which cause the underestimations in hypogonadism morbidity.

Conclusions: Regardless of lower incidence of hypogonadotropic hypogonadism compared to hypergonadotropic type, endocrinologists should stay aware of its under-diagnosis and actively search for signs of low gonadotropic hormones and gonadotropin-releasing hormone levels in hypogonadal patients.

Key words: Hypogonadism; hypogonadotropic; testosterone; genetic disorder; Kallmann syndrome