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This study found that post-COVID-19 syndrome incidence varied significantly by gender and identified ALP levels as a potential biomarker for its detection, challenging current diagnostic criteria.

This study found that among women with PCOS, the most common clinical symptoms were menstrual dysfunction, infertility, acne, and hirsutism, with the non-androgenic phenotype being the most frequently identified.

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 reported that ovulatory PCOS is a milder form of the condition compared to classic PCOS phenotypes, which share similar clinical and hormone characteristics.

This study reports that folliculitis decalvans and lichen planopilaris phenotypic spectrum is an underdiagnosed form of cicatricial alopecia, potentially treatable with anti-inflammatory drugs used for lichen planopilaris.

The authors concluded that establishing and standardizing methods for data collection are crucial to improving PCOS diagnosis and research due to challenges observed in data harmonization across diverse international cohorts.

This study found that insulin resistance varies across different PCOS phenotypes, with the PCOM+MI+HA phenotype showing higher resistance than others.

In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.

This study found that among different subtypes of PCOS based on Rotterdam criteria, group A showed higher androgen levels and hirsutism, while all subtypes had increased LH and LH/FSH compared to controls.

This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.

This study found that among young women in West Bengal, India, co-occurring PCOS and related conditions like estrogen resistance and leptin receptor insufficiency are common, with notable genetic variations identified, including impairments in leptin signaling and insulin resistance.

In this study of women in Swabi, 26.04% were diagnosed with Polycystic Ovary Syndrome, with Hyperandrogenism and phenotype A being the most common presentations.

This study found that combining fructose and DHT in rats successfully mimicked the clinical phenotypes of non-lean PCOS, providing a novel rodent model for this condition.

This study suggests that IL-4 and IL-13 may play a role in the immunopathogenesis of alopecia areata in some patients, indicating a possible Th2-driven pathway in this condition.

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

In this review, researchers provided a comprehensive analysis of anti-androgen therapies for polyendocrine metabolic ovarian syndrome (PMOS/PCOS), examining their efficacy and safety while proposing a phenotype-guided management framework and highlighting research gaps, such as long-term cardiovascular safety and predictive biomarkers.

In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.

This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.

This study examined the prevalence of polycystic ovary syndrome phenotypes among adolescent females in Shiraz, finding a notable presence of different symptoms and emphasizing the need for early detection.

This study found that men with early androgenetic alopecia had higher levels of free testosterone, DHEAS, and LH, along with insulin resistance and higher homocysteine levels, suggesting they share risk profiles similar to PCOS in women.

Ichthyoses are genetic skin disorders that affect the skin's barrier function.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

This review discusses the integration of omics analyses in androgenetic alopecia research, reporting no new clinical results but suggesting that collaborative multi-omics studies may enhance understanding of AGA's pathomechanisms.

In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.

This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.

This study investigated genetic and phenotypic characteristics of androgen insensitivity syndrome in individuals with a 46,XY karyotype, documenting a range from complete to partial insensitivity.