Abstract

Hereditary hemochromatosis is a genetic disease that progresses silently. This disease is often diagnosed late when complications appear. Hypogonadotropic hypogonadism (HH) is one of the classical complications of hemochromatosis. Its frequency is declining probably because of earlier diagnosis and better informed physicians. Certain symptoms linked to HH can have an impact on a patient’s sexuality, such as decreased libido, erectile dysfunction, and impairment of ejaculation, as well as on his reproductive capacities.This review is based on an online search in English, French and German language publications found in PubMed/Medline, up to 23 September 2016 using the following key word: Male infertility, Hypogonadotropic Hypogonadism, Hereditary Hemochromatosis.Thirty-four papers met these inclusion criteria. This review describes the impact of iron overload on male fertility, resulting in hypogonadotropic hypogonadism and proposes treatment modalities.

Highlights

  • Hemochromatosis is an iron overload disease characterized by normal erythropoiesis, an increase in the saturation coefficient of transferrin (≥ 45%), an increase in the concentration of serum ferritin (≥300 μg/L in a human) and a parenchymal iron deposition caused by low levels of hepcidin [1]

  • This review focuses on the reproductive dysfunction associated with iron overload-induced Hypogonadotropic hypogonadism (HH) and proposes a patient management strategy which preserves the fertility of affected patients

  • The study by Mc Dermott et al that followed up 191 patients with hemochromatosis over 20 years, reported hypogonadism in 89% of patients with liver cirrhosis and 33% in patients with diabetes, both representing a complication of iron overload [4]

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Summary

Introduction

Hemochromatosis is an iron overload disease characterized by normal erythropoiesis, an increase in the saturation coefficient of transferrin (≥ 45%), an increase in the concentration of serum ferritin (≥300 μg/L in a human) and a parenchymal iron deposition caused by low levels of hepcidin [1]. It is the most common inherited disease in France with an estimated prevalence of 0.3% [2]. Iron overload causes endocrine dysfunction, on the pituitary axis [4], with a potential impact on fertility. This review focuses on the reproductive dysfunction associated with iron overload-induced HH and proposes a patient management strategy which preserves the fertility of affected patients

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