The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men

Buretić‐Tomljanović, Alena; Vlastelić, Ivan; Badovinac, Anđelka Radojčić; Čizmarević, Nada Starčević; Nadalin, Sergej; Ristić, Smiljana

doi:10.1016/j.fertnstert.2008.02.129

Cited by 13 publications

(8 citation statements)

References 33 publications

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“…The presentations are decreased libido, infertility, impotence, and amenorrhea. It occurs in both sexes due to decreased gonadotropin secretion from pituitary glands because of iron-induced cellular damage (11).…”

Section: Discussionmentioning

confidence: 99%

Hemochromatosis Presenting with Diabetic Ketoacidosis: A Rare Case Report

Jain¹,

Vk²,

Mittal³

et al. 2016

Erciyes Med J

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Hemochromatosis, although increasingly recognized by clinicians, is still underdiagnosed because it is often considered a rare disorder. The fully established disease consists of cirrhosis, diabetes, and skin pigmentation (bronze diabetes). Diabetes can occur as a result of direct islet cell damage due to iron infiltration. Presentation with diabetic ketoacidosis is rare, and only few cases have been reported. This case report is of a patient with hemochromatosis presenting with diabetic ketoacidosis.

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Section: Discussionmentioning

confidence: 99%

Hemochromatosis Presenting with Diabetic Ketoacidosis: A Rare Case Report

Jain¹,

Vk²,

Mittal³

et al. 2016

Erciyes Med J

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“…17 Sertoli cells supply the structural support and optimal environment for spermatogenesis, and their number in the testis is a key feature affecting the number of mature sperm formed in the adult testis. 18 Abnormal LH pulsatile secretion may be associated with male infertility and could disrupt the regulatory role of both the Sertoli and Leydig cells, resulting in abnormal spermatogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…Meeker et al 26 demonstrated an inverse relationship between human sperm parameters and serum hormone levels, including FSH. Buretić-Tomljanović et al 17 studied the impact of HFE mutations and transferrin genotypes on gonadotropin serum levels. Their study revealed that the sperm count and progressive sperm motility did not correlate with the HFE or TF genotype or their combination.…”

Section: Discussionmentioning

confidence: 99%

An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population

Yu¹,

Wang²,

Xin³

et al. 2012

Asian J Androl

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Mutations in the haemochromatosis gene (HFE) influence iron status in the general population of Northern Europe, and excess iron is associated with the impairment of spermatogenesis. The aim of this study is to investigate the association between three mutations (C282Y, H63D and S65C) in the HFE gene with idiopathic male infertility in the Chinese Han population. Two groups of Chinese men were recruited: 444 infertile men (including 169 with idiopathic azoospermia) and 423 controls with proven fertility. The HFE gene was detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The experimental results demonstrated that no C282Y or S65C mutations were detected. Idiopathic male infertility was not significantly associated with heterozygous H63D mutation (odds ratio50.801, 95% confidence interval50.452-1.421, x 2 50.577, P50.448). The H63D mutation frequency did not correlate significantly with the serum luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone (T) levels in infertile men (P50.896, P50.404 and P50.05, respectively). Our data suggest that the HFE H63D mutation is not associated with idiopathic male reproductive dysfunction.

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“…The HFE (High Iron Fe) gene controls the expression of hepcidin, which equally to transferrin, controls the circulation of iron in the body [120]. Fe toxicity develops as a consequence of C282Yand/or H63D mutations in the HFE gene (Fig.…”

Section: Male Reproductive Toxicity Associated With Iron and Copper Omentioning

confidence: 99%

Iron and copper in male reproduction: a double-edged sword

Tvrdá

Peer

Sikka

et al. 2014

J Assist Reprod Genet

151

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Iron and copper are essential trace nutrients playing important roles in general health and fertility. However, both elements are highly toxic when accumulating in large quantities. Their direct or indirect impact on the structure and function of male gonads and gametes is not completely understood yet. Excess or deficiency of either element may lead to defective spermatogenesis, reduced libido, and oxidative damage to the testicular tissue and spermatozoa, ultimately leading to fertility impairment. This review will detail the complex information currently available on the dual roles iron and copper play in male reproduction.

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The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men

Cited by 13 publications

References 33 publications

Hemochromatosis Presenting with Diabetic Ketoacidosis: A Rare Case Report

Hemochromatosis Presenting with Diabetic Ketoacidosis: A Rare Case Report

An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population

Iron and copper in male reproduction: a double-edged sword

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