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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 abstract provides no results, as it only notes Sharon Keene's professional role and describes a non-blood test for AGA genetics.

This review discusses advancements in the genetic understanding of androgenic alopecia and the FDA-approved treatments, including a new laser hair comb, but reports no clinical results.

Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.

This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.

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

This study found no strong evidence that the human hairless gene is significantly involved in the development of androgenetic alopecia, though a minor role cannot be completely ruled out.

This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.

In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

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 letter discusses azathioprine-induced alopecia and leukopenia potentially linked to NUDT15 polymorphisms, reporting no new clinical results.

This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.

This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.

This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.

This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.

This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.

This review discusses the integration of drug repurposing with personalized medicine through off-label prescribing and reports no new results, highlighting the potential for systematic exploration using omics technologies.

This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.

This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.

This study reviewed the evidence on minoxidil's effectiveness for androgenetic alopecia, finding that 5% topical minoxidil is the most effective monotherapy for men, while 2% is similarly effective for women. Genetic markers can predict response, and new formulations like foam and gel improve tolerability.

This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.

This book discusses current research on polycystic ovary syndrome, including diagnosis, management, and the impact of lifestyle changes, without reporting new clinical results.

This study developed a 3D ovarian cancer model using microtumours, which effectively mimics minimal residual disease and supports the identification of new drug targets like perhexiline for treatment-resistant cells.

This study highlights how combining genetic and environmental risk assessments could advance early screening and personalized prevention for vitiligo, given its genetic complexity and environmental interactions.

This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.

This study reviewed common types of alopecia in primary care, emphasizing tailored diagnostic and treatment strategies based on type, with consideration of individual risk factors such as age, genetics, and medication associations.

This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.

This study found that in young men with post-finasteride syndrome, there are potential genetic risk factors associated with psychological and sexual dysfunctions, suggesting genetic screening may be beneficial before prescribing finasteride.

This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.

This study found evidence suggesting a potential genetic link between polycystic ovaries and premature male pattern baldness through screening of first-degree relatives of women with polycystic ovary syndrome.