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This case study of a subfertile couple highlighted the importance of considering haemochromatosis, particularly involving the C282Y mutation of the HFE gene, in patients with endocrine disorders linked to hypogonadism.

This case report highlights how a thorough history and examination led to the diagnosis of hereditary hemochromatosis in a patient initially suspected to have diverticulosis, improving symptoms with phlebotomy treatment.

This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.

This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.

This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.

This article suggests that alopecia areata may be an early skin manifestation of hereditary hemochromatosis in individuals predisposed to autoimmunity, recommending iron status evaluation during AA diagnosis; it reports no new clinical results.

This review discusses the complex role of the immune system in tissue repair and regeneration, highlighting its positive and negative influences but reports no new clinical findings.

This review discusses the complexities of diagnosing and treating iron deficiency related to nutritional anemia and hair loss, concluding that routine screening and supplementation for hair loss are not yet supported by sufficient evidence.

In this study, researchers found that hepatitis C virus infection is a significant risk factor for sporadic porphyria cutanea tarda, suggesting familial cases might be more prevalent in areas with low hepatitis C infection rates.

This article reviews the association between hepatitis C virus and systemic disorders like mixed cryoglobulinemia, highlighting potential autoimmune side effects from interferon-a2b treatments, and reports no new clinical results.

This review discusses various potential adverse effects of common oral vitamin and mineral supplements used in dermatology and highlights lesser-known issues like hematologic and neurologic effects from zinc.

This book discusses various unanswered questions about headaches, including genetic factors, smartphone effects, and botulinum toxin's potential benefits for chronic migraines, but reports no new clinical findings.

This study found that women with androgenetic alopecia or alopecia areata have significantly lower serum ferritin levels than those without hair loss, suggesting a potential link between these types of alopecia and decreased iron stores.

The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.

The document explains various skin conditions and their treatments.

This article reviews clinical and treatment aspects of hyperandrogenism in women, emphasizing the roles of diagnostic practices, combined oral contraceptives, and cyproterone acetate, but introduces no new findings.

This study found that while iron depletion through phlebotomies is safe for women with functional ovarian hyperandrogenism, it does not improve their cardio-metabolic profile and may reduce non-enzymatic antioxidant capacity.

The TGF-β family helps control how cells change and move, affecting skin, hair, and organ development.

This review discusses the impact of ACE polymorphism on COVID-19 severity, suggesting it affects adults more than children, but presents mixed findings concerning infection prevalence and mortality.

This review explores the similarities between polycystic ovary syndrome and hemochromatosis in terms of iron overload and suggests that addressing gut dysbiosis might help manage iron levels in these conditions.

This case report describes a 66-year-old woman diagnosed with porphyria cutanea tarda, characterized by painless vesicular lesions on sun-exposed areas and associated with hemochromatosis, and managed effectively with phlebotomy.

This report describes a 66-year-old woman's diagnosis of porphyria cutanea tarda, suggested by her painless blisters on sun-exposed areas, pink urine, and elevated urinary porphyrins.

This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.

This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.

This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.

This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.

This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.

This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.

This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.

This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.