Hemochromatosis as a cause of central primary Amenorrhea: A literature review and case report

Abstract

Introduction: Hereditary hemochromatosis (HH) is a genetic disease that causes systemic iron overload. The excess of iron accumulates in several organs, leading to organ dysfunction. Therefore, the excess of iron deposition might create an endocrine impairment, and can further lead to hypogonadism and, rarely, to amenorrhea. In this study, we aim to report a rare cause of HH and primary amenorrhea, with the help of clinical investigations. Case Description: This study is based on a single patient who was diagnosed with amenorrhea. The patient had a previous history of HH, type I diabetes mellitus, and chronic liver disease. The physical and hormonal investigations were normal, and her karyotype was 46 XX. A magnetic resonance imaging (MRI) demonstrated a diffuse reduction of the pituitary tissue signal, which might resemble HH. Discussion: The diagnosis of HH is based on a biochemical and genetic evaluation. The treatment includes regular phlebotomies and the control of comorbidities. In most of the cases, the hypogonadotropic hypogonadism leads to amenorrhea due to a pituitary impairment. However, a rare appearance of amenorrhea without hypogonadism may also be possible. Hence, the investigation of HH should be suggested incases of primary amenorrhea. The early diagnosis of HH is crucial to prevent the morbidity and mortality in patients with these clinical features.