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This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.

This study found that examining hair morphology provides deeper insights than classification, suggesting a potential population stratification artefact between hair curvature and cross-sectional shapes in the examined admixed African-European sample.

This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.

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.

In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.

This study found no significant genetic correlations between male pattern baldness and COVID-19 outcomes, suggesting that shared genetic factors may not explain the reported association.

In this study, rheumatoid arthritis patients showed no changes in the number of circulating follicular helper T cells, but these cells had increased CD200 expression, implicating them in disease pathogenesis and suggesting CD200/CD200R as a potential therapeutic target.

This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.

This study reported that women with metabolic PCOS phenotype have free androgen index values approximately twice as high as those with the reproductive phenotype.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

This study found that higher scores of hair loss on the Hamilton-Norwood scale correlated with increased hair gain in the conchal bowl in men, suggesting potential age-related adaptations beyond cosmetic concerns.

This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.

This study concluded that the digit-length ratio (2D:4D) does not predict androgenic alopecia development, suggesting prenatal androgen exposure does not predispose men to this condition.

Higher thyroid hormone levels may be linked to certain types of polycystic ovary syndrome.

This study found that BMI was the only significant predictor of elevated androgen levels in adolescents with PCOS, and hyperandrogenemia was not linked to a specific PCOS phenotype.

In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.

The researchers reported that in mice, the type of tumor suppressor deleted along with oncogenic Kras activation in HFSCs influenced the specific squamous cell carcinoma phenotype that developed.

This study used quantitative methods to identify new geometric and mechanical parameters of curly and kinky/coily hair, aiming to improve classification and develop better personal care products for these hair types.

This study observed that androgenic hormone levels were higher in high school girls with PCOS phenotypes accompanied by menstrual disorders, particularly oligomenorrhea.

This study describes a patient with Rothmund–Thomson syndrome-like symptoms who displayed hair improvement after combination therapy, despite carrying an ANAPC1 gene variant of uncertain significance.

In this prospective case-control study, researchers found that women with any phenotype of polycystic ovary syndrome exhibited increased retinal nerve fiber layer and choroidal thickness compared to healthy controls, with changes correlated to body mass index.

This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.

This study found that normal ALT levels in women of reproductive age are linked with metabolic and androgenic abnormalities, suggesting ALT could be used beyond liver disease diagnoses.

People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.

This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.

This study protocol aims to explore the prevalence of polycystic ovary syndrome among female pediatric patients with spina bifida, focusing on metabolic and phenotypic differences, but reports no new results yet.

This study found that redhaired individuals exhibit higher calcidiol levels compared to non-redhaired individuals, suggesting a possible evolutionary adaptation for vitamin D photosynthesis in low UV-B environments in Europe.

In this study, researchers identified unique prenatal lymphocyte features in human fetal skin, including proliferative naive T cells and memory-like T cells, which may influence antigen and allergen responses in utero and infancy.

This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.