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This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.

This study reports that a young man with severe testotoxicosis maintained spontaneous fertility despite suppressed FSH levels, underscoring the importance of high intratesticular testosterone levels for spermatogenesis.

This case report describes a girl with Denys-Drash syndrome misdiagnosed with hyperandrogenism due to biotin interference in immunoassays, highlighting the need for awareness of laboratory result discrepancies.

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 found that a catalytically active version of Vav2 significantly altered gene expression patterns in hair follicle stem cells in mice, with these changes varying over the animals' lifespans.

This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.

This study discusses the potential health risks associated with occupational radiation exposure, including genetic mutations, cancers, and other diseases, and outlines strategies for prevention and occupational health safety.

This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.

This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.

This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.

This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.

This review discusses strategies to improve CRISPR/Cas systems by addressing limitations like off-target effects and delivery inefficiencies, offering practical guidance and highlighting future applications, but reports no new research findings.

This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.

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

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This study suggests that cutaneous lymphadenoma is a distinct benign lymphoepithelial tumor characterized by androgen receptor expression, hair follicle stem cell markers, and common EGFR gene mutations.

This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.

This study found that the medication dyclonine has a potent inhibitory effect on the TRPV3 channel, effectively rescuing cell death and alleviating pruritus symptoms in a mouse model with gain-of-function TRPV3 mutations, suggesting potential for treating skin inflammation.

This study defines two types of RDEB wounds, chronic open and recurrent, and finds that patient self-reports on wound size correlate well with investigator measurements when complemented by serial photography.

This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.

In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.

This paper reviews the diagnostic criteria, etiological factors, and treatment approaches for PCOS, highlighting the importance of considering metabolic issues such as insulin resistance and obesity, but reports no new findings.

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.

This review discusses the challenges in measuring testosterone for assessing androgen excess in women and emphasizes the importance of quality control in laboratory methods, but it reports no new clinical results.

This review discusses the evaluation of hyperandrogenemia in women and hypogonadism in men across different life stages and presents biomarkers used for diagnosing male hypogonadism, reporting no new clinical results.