Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A couple was investigated for subfertility. Haemochromatosis was suspected when the 36-year-old man had failure of ejaculation, fatigue and limited facial hair growth. Haemochromatosis was confirmed by an iron saturation of 102% (normal range: 20-45), a highly elevated serum ferritin concentration of 5468 mg/1l (normal range: 18-280) and highly elevated liver enzymes. Molecular genetics showed homozygous C282Y mutation of the HFE gene. Due to consequent venesection therapy, levels of ferritin and transferrin decreased and liver enzymes normalized. However luteinizing hormone and follicle stimulating hormone failed to increase to normal levels. Treatment with gonadotropins was then applied, which corrected ejaculation and semen characteristics. His partner failed to become pregnant with ovulation stimulation and intrauterine inseminations. After two unsuccessful IVF procedures she became pregnant in the third procedure. Haemochromatosis should be considered and iron studies performed if subfertility due to an endocrine disorder is being investigated. Deposition in the pituitary or the gonads of the HFE-mutated patients leads to hypogonadism. Most of the patients with C282Y mutation are homozygous (85-90%), but the majority of the carriers will not develop the disease. Deficiency of hepcidin, an important regulator for the iron metabolism, was suspected in our patient, based on the early onset of his disease and the low serum levels of hepcidin. The age at diagnosis and the start of venesections is critical for reversal of organ damage. Aggressive venesection can restore hypothalamic-pituitary-gonadal function, preventing further organ damage. But with increasing disease progression venesection will not restore azoospermia or the failure to ejaculate.
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PMID:[Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis]. 1763 84

A bull aged 16 months with bilateral testicular hypoplasia and azoospermia was persistently infected with bovine viral diarrhoea virus (BVDV). Viral antigen was detected in serum and semen by ELISA, but the animal was serologically negative. After slaughter, the genital tract was examined histopathologically and by immunohistochemistry, including double immunolabelling with BVDV antibody and either S-100 antibody (for Sertoli cells) or ferritin antibody (for Leydig cells). The seminiferous tubules of both testes were lined by a single layer of Sertoli cells and the germinal epithelium was completely absent except for a few remaining spermatogonia. BVDV antigen was demonstrated (1) in the media of arterial vessel walls of the testis, epididymis, urethra, prostate, and vesicular and bulbourethral glands, (2) in epithelial cells of the ductus epididymidis, the accessory glands and the urethra, and (3) in the testis, mainly in Sertoli cells and to a lesser extent in the spermatogonia that remained, but not in Leydig cells. The testicular hypoplasia was possibly linked to the BVDV infection.
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PMID:Testicular hypoplasia in a bull persistently infected with bovine diarrhoea virus. 1782 54