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Introduction: Congenital adrenal hyperplasia (CAH) is a group of diseases in which genetic defects occur that disturb the synthesis of cortisol. The most common variant of CAH (95%-99%) is caused by 21-hydroxylase deficiency as a result of mutations in the CYP21A2 gene and is one of the most common monogenic diseases. CAH is characterized by androgen overproduction along with variable degrees of cortisol and aldosterone deficiency. Age at diagnosis can provide some information about the underlying mutations, with those diagnosed at birth/early infancy being at greater risk of developing serious enzyme defects. Classic and non-classical forms of this disorder have been described in the literature. CAH diagnosis is based on the clinical presentation, hormonal panel, Adrenocorticotropic Hormone (ACTH) stimulation test, and genetic testing. The main goals of treatment for congenital adrenal hyperplasia are glucocorticoid/mineralcorticoid supplementation, control of high adrenal androgen levels, fertility control, genetic counseling, and optimization of patients’ quality of life. Purpose of the work: This study aims to review and characterize the clinical and pathophysiological aspects of congenital adrenal hyperplasia. Materials and methods: A comprehensive analysis of research papers available on PubMed, Google Scholar, Web of Science, Embase and Scopus was undertaken using the searchterms encompassing the following keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2 Results: Congenital adrenal hyperplasia is a heterogeneous group of genetic disorders that can lead to serious and even fatal complications in the form of adrenal crisis. Therefore, screening tests and early diagnosis are crucial and can save the lives of newborns. Treatment should be individualized and allow patients to achieve normal growth, sexual development, fertility and a better quality of life.

Atopic dermatitis is a long-term inflammatory skin disease caused by factors such as skin barrier dysfunction and immune system dysregulation . Currently, the first-line treatment for atopic dermatitis involves the use of topical glucocorticosteroids; however, this treatment is associated with many side effects. Therefore the need of finding new methods of treatment arises. Objective: The objective of this study is to gather and analyze literature on new methods of treating atopic dermatitis. Materials and methods: The review was based on the analysis of materials collected in the database, PubMed, Google Scholar, Web of Science, Embaseand, Scopus, books and other scientific articles.

Uveal melanoma (UM) is a serious condition requiring immediate medical attention. It is the most common primary intraocular cancer in adults, with an incidence of around 5.2 cases per million people annually. Nearly half of UM patients develop metastatic disease, most often affecting the liver. UM refers to any malignant tumor arising from melanocytes in the uveal tract, which includes the iris, ciliary body, and choroid. Treatment options for UM depend on several factors, including tumor size, location, and the patient's overall health. These options may include radiation therapy, surgery, laser treatments, targeted therapies, and immunotherapy. UM is often described as an immune-privileged tumor, with a distinct immune profile compared to cutaneous melanoma (CM). This article aims to highlight the unique characteristics and challenges associated with this rare form of melanoma. By providing detailed information, the article seeks to enhance understanding and management of this rare form of melanoma.

Diabetes mellitus (DM) encompasses a spectrum of metabolic disorders characterized by hyperglycemia due to defects in insulin secretion, action, or both. Type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) are the most prevalent forms, whereas Maturity-Onset Diabetes of the Young (MODY) represents a monogenic subtype, often misdiagnosed due to its phenotypic overlap. This case study highlights a 26-year-old male initially diagnosed with T1DM at age 12, managed with insulin therapy. Upon admission, despite stable glycemic control and preserved C-peptide secretion, genetic testing revealed MODY 2 due to a variant in the GCK gene. Unlike T1DM and T2DM, MODY 2 is characterized by mild, persistent hyperglycemia with a low risk of complications, emphasizing the importance of genetic diagnosis for tailored management and family counseling. This case underscores the critical role of genetic evaluation in accurately diagnosing and managing atypical diabetes presentations.

Introduction: Phenylketonuria (PKU) is a genetically determined congenital metabolic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, which is ingested through food. This deficiency leads to the accumulation of phenylalanine in the blood. If untreated, this can result in neurological damage and cognitive impairments. Despite significant progress in understanding the disease, along with advancements in diagnostic methods, the fundamental approach to managing PKU has remained consistent: early detection and adherence to a diet low in phenylalanine are essential to preventing the adverse effects of the disorder. Purpose of the work: The aim of the study is to analyze and present the current knowledge about phenylketonuria and the quality of life of patients suffering from this disease, as well as methods of its detection. Materials and methods: An analysis of research papers available on PubMed and Google Scholar was undertaken using the following keywords: phenylketonuria; PKU diagnosis; phenylketonuria newborn screening; genetic testing for PKU; Quality of Life in PKU patients. Results: There are various diagnostic methods used in newborn screening and to confirm diagnosis. Regardless of the method, early diagnosis and the introduction of an appropriate diet are crucial. Adherence to dietary restrictions and monitoring phenylalanine levels, along with managing the effects of elevated levels in the body, may negatively impact the quality of life for individuals affected by PKU.

Abstract: Introduction: TORCH syndrome refers to a group of symptoms caused by congenital infections with teratogenic pathogens, including Toxoplasma gondii, Varicella, Treponema pallidum, Parvovirus B19, Rubella, Cytomegalovirus (CMV), and Herpes simplex virus (HSV). It can also encompass infections like HIV, Zika virus (ZIKV), hepatitis B, and SARS-CoV-2. These pathogens can pass through the placenta, overcoming various placental barriers. Infections during pregnancy can result in severe consequences for both the fetus and the mother. Common symptoms in newborns include low birth weight, rashes, hepatosplenomegaly, cardiac anomalies, jaundice, chorioretinitis, and microcephaly, with 2% to 3% of congenital anomalies attributed to perinatal infections. The incidence of these infections varies globally. Purpose of the work: This study aims to review and characterize TORCH syndrome and the prevention of TORCH infections. Materials and methods: A comprehensive analysis of research papers available on PubMed, Google Scholar, Web of Science, Embase and Scopus was undertaken using the searchterms encompassing the following keywords: TORCH syndrome / infections during pregnancy / perinatal infections / Toxoplasmosis / Rubella / CMV infection / Herpes Simplex Virus infection / Parvovirus B19 / Treponema pallidum / vaccinations before and during pregnancy / maternal nutrition. Results: TORCH syndrome is a significant issue causing congenital diseases, premature births, and intrauterine deaths, impacting babies throughout their lives. Most complications can be prevented with proper prophylaxis and early treatment. Increasing awareness and providing education for women from preconception through the early postnatal period is essential. Addressing TORCH syndrome remains a major medical challenge, but improving management offers hope for better outcomes.

Engaging in regular physical activity (PA) is crucial for managing type 1 diabetes (T1D) effectively. PA helps reduce the risk of cardiovascular disease (CVD), lower total daily insulin requirements, improve endothelial function, enhance muscular strength, and boost psychological well-being and quality of life. However, individuals with T1D tend to engage in PA less frequently than their healthy peers due to various barriers, with the fear of hypoglycemia (FOH) being a significant factor that impacts quality of life and diabetes outcomes. Understanding these barriers can increase awareness, improve comprehension, and enhance better support from non-diabetology specialists. This article aims to review the current literature on the primary limitations to regular PA, including continuous glucose management (CGM), in individuals with T1D. Additionally, we explore the impact of various types of PA on blood glucose management and overall well-being.

Up to 30% of people with psoriasis may develop psoriatic arthritis (PsA), a complicated inflammatory disease characterized by skin signs, joint discomfort, and swelling. Although pharmaceutical therapies have been the primary component of traditional PsA care, the advantages of physical activity are becoming more widely acknowledged. This review looks at how exercise can help manage PsA, with particular emphasis on several types of exercise, including resistance training, functional training, aerobic training, and high-intensity interval training (HIIT). Research indicates that resistance training increases muscle strength and functional ability while aerobic exercise lessens tiredness and musculoskeletal pain. Without escalating disease activity, HIIT reduces fatigue and enhances cardiorespiratory fitness. The review also looks at the relationship between physical activity and PsA symptoms including enthesitis and bone marrow edema (BME). Research shows that exercise does not worsen BME, and even if it can cause enthesitis, the advantages of exercise in terms of lowering overall disease activity and enhancing quality of life exceed the dangers. To sum up, customized exercise regimens are crucial for PsA management and have a major positive impact on patient well-being and disease control.

Sinusitis is a disease of usually mild course - however, sometimes secondary diseases might develop such as pneumonia which might have moderate to severe course. Pneumonia is usually treated ambulatory, regardless some patients’ state worsens and they are in need of hospital treatment, sometimes even in Intensive Care Unit. In this article is presented a case of a patient with such history - a young adult with no medical history of chronic diseases, whose state worsened and required ICU treatment.

Acne vulgaris is a common, chronic inflammatory skin disease affecting up to 80% of young adults and adolescents. The pathogenesis of acne is multifactorial and involves the pilosebaceous units of the skin. As a result of the disease process, skin lesions such as open and closed comedones, nodules, pustules, and papules appear on the skin. In recent years, acne has been increasingly observed in younger patients, which is associated with the earlier onset of puberty. Moreover, acne is increasingly diagnosed in individuals over 20 years of age, particularly in women, which is referred to as adult female acne (AFA). Effective and rapid implementation of treatment is crucial to prevent complications such as post-inflammatory hyperpigmentation and acne scars, as well as to mitigate the negative psychological impact of the disease on patients. The article discusses both topical treatment and aesthetic medicine procedures in the management of acne vulgaris. Topical treatments include the use of retinoids, antibiotics, benzoyl peroxide, clascoterone, dapsone, azelaic acid, and combination therapies. Aesthetic procedures such as chemical peels, microdermabrasion, photodynamic therapy, blue light therapy, and laser therapies can be beneficial as adjunctive treatments. The article also addresses the issue of acne as a comorbid condition in patients seeking aesthetic medicine treatments, even if it is not the primary reason for their visit.

Systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS) are autoimmune diseases that frequently coexist, complicating clinical management due to the compounded risks of systemic inflammation and thromboembolism. We present a case of a 52-year-old female with SLE and APS, initially diagnosed after a pulmonary embolism in 2015. Her medical history includes recurrent anemia, hyperlipidemia, hypertension, and two myocardial infarctions treated with angioplasty and stenting. Despite treatment with hydroxychloroquine, methylprednisolone, methotrexate and apixaban (later switched to warfarin), the patient experienced severe disease flare-ups and cardiovascular complications, prompting consideration for biologic therapy with anifrolumab. This case study illustrates the difficulties associated with the management of concurrent SLE and APS. It is clear that early diagnosis, vigilant monitoring, and aggressive management of both autoimmune and cardiovascular risks are essential to improve patient outcomes.