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This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.

This case report describes a girl in China with biotinidase deficiency confirmed by genetic mutations, whose skin and hair symptoms improved with biotin therapy.

This review discusses recent findings related to sebaceous gland conditions, including updated recommendations for screening in sebaceous neoplasms and potential treatments for acne vulgaris, though no new definitive clinical results are reported.

This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.

Diffuse alopecia in women may be related to androgens and iron deficiency, and basic hormone and nutrient screening is useful.

This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.

This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.

This review covers approaches to diagnosing inherited metabolic disorders in pediatric patients and emphasizes the need for clinicians to recognize and manage these conditions, but it reports no clinical results.

This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.

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 study found that lateral root formation in plants in response to L. bicolor volatiles involves complex signaling processes, potentially including unknown proteins, CRKs, and ABA pathways.

In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.

This case report from the authors highlights a rare diagnosis of high-grade prostate cancer in a 35-year-old man, showing strong functional recovery and no detectable PSA one year after robotic-assisted radical prostatectomy despite the usual onset being significantly later in life.

This case study presents a 9-month-old male infant with symptoms suggesting a likely diagnosis of Hay–Wells syndrome, including severe scalp crusting, nail abnormalities, and partial syndactyly.

This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.

This review discusses the various phenotypes and diagnostic challenges of polycystic ovary syndrome, highlighting its complex pathophysiology and associated health risks, and reports no new clinical results.

This review summarizes current understanding and genetic insights into androgenetic alopecia, female pattern hair loss, and alopecia areata, noting the potential future role of molecular diagnostics, but it reports no new clinical results.

This review discusses strategies for developing semi-solid topical generic products to match the quality of reference-listed drugs, using concepts like quality by design and reverse-engineering, but reports no new results.

This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.

This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.

This study established that a human epidermal model can be utilized to assess 5alpha-reductase activity and evaluate enzyme modulators, such as finasteride, for dermatological applications.

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 mice lacking myelin protein zero-like 3 (Mpzl3) had reduced body weight and adiposity despite increased food intake, which was linked to higher energy expenditure and improved glycemic control.

This study identified procyanidin B2 and leucopelargonidin from Saraca asoca as potential inhibitors in PCOS by showing high binding energy scores against key enzymes involved in estrogen and testosterone biosynthesis.

This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.

Genes and hormones cause hair loss, with four genes contributing equally.

This study found that LC-MS/MS is a more reliable method than immunoassays for measuring serum 17OHP and androgen levels in women with hyperandrogenism.

This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.

This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.

This review discusses the genetics and variable phenotypic expression of nonclassic congenital adrenal hyperplasia, and reports no new clinical results; the authors call for further research on long-term health impacts and treatment strategies.