April 2023 in “Elsevier eBooks” This review discusses the various phenotypes and systemic manifestations of polycystic ovary syndrome, including metabolic, reproductive, and psychological aspects, but reports no new clinical results.
30 citations
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January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
1 citations
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March 2024 in “Türk Kadın Sağlığı ve Neonatoloji Dergisi” This study concluded that among patients with polycystic ovary syndrome at their clinic, the most common phenotype was group A, with lifestyle modification and oral contraceptives being frequently used treatments.
September 2022 in “Biomedicines” This study found that lipid accumulation product (LAP) and free androgen index (FAI) can highly predict liver steatosis in women with PCOS phenotype A.
29 citations
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March 2015 in “Clinical Endocrinology” This study found that women with polycystic ovary syndrome in the UK show significant differences in phenotypic and metabolic characteristics based on ethnicity, age, and obesity, influencing management strategies.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
August 2026 in “International Journal For Multidisciplinary Research” This case report suggests that a comprehensive phase-wise Unani therapeutic approach may improve multiple clinical, hormonal, and metabolic outcomes in a young woman with Polyendocrine Metabolic Ovarian Syndrome.
10 citations
,
September 2021 in “American Journal of Medical Genetics Part A” 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.
June 2025 in “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
13 citations
,
July 2012 in “International Journal of Trichology” In this study, the varied phenotype of trichothiodystrophy was highlighted, with findings of distinctive hair shaft abnormalities and a wide range of multisystem issues, including neurologic and urologic disorders.
7 citations
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October 2012 in “S. Karger AG eBooks” This review discusses the similarities in clinical, endocrine, and ultrasonographic features between PCOS and other disorders with excessive androgen secretion, emphasizing the importance of accurate diagnosis but reports no new clinical results.
14 citations
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March 2022 in “Clinical Endocrinology” This review outlines a diagnostic approach for identifying non-PCOS pathology in women with androgen excess, emphasizing the importance of clinical history and biochemical phenotyping but reports no new clinical results.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
767 citations
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September 2016 in “Human Reproduction” This review analyzes the reported prevalence of polycystic ovary syndrome (PCOS) based on different diagnostic criteria but does not provide new clinical results.
62 citations
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April 2013 in “Steroids” This review discusses the age-related diagnostic challenges and comorbidities of polycystic ovarian syndrome and provides no new clinical findings; the authors emphasize the role of obesity in insulin resistance among affected women.
9 citations
,
October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
January 2026 in “International Journal of Dermatology” This review examines the androgen-dependent subtype of acquired progressive kinking of the hair and suggests it may be an early indicator of androgenetic alopecia, emphasizing the importance of distinguishing between subtypes for clinical decisions.
14 citations
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March 2018 in “The American journal of case reports” 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.
7 citations
,
June 2021 in “Trends in Food Science and Technology” This commentary reviews potential dietary and mineral influences on androgenetic alopecia and suggests considering a diet low in cholesterol and glycaemic index with improved glucose control and magnesium fortification, without new clinical results.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
14 citations
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October 2016 in “Physiological Research” In this study, vitamin D supplementation showed no significant effect on androgen levels or clinical hyperandrogenism in PCOS women, but when combined with metformin, it improved testosterone levels.
1 citations
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September 2021 in “Nigerian journal of medicine : journal of the National Association of Resident Doctors of Nigeria” This study found that the prevalence of androgenetic alopecia among adults in Ogbomoso, Nigeria, was 29.95%, with a higher incidence in men and mixed type baldness as the most common phenotype.
December 2016 in “University of Birmingham Institutional Research Archive (University of Birmingham)” This study found that manipulating 5αR2 activity in human hepatocytes in vitro can regulate lipogenesis, with potential clinical implications for patients taking 5αR inhibitors.
2 citations
,
June 2017 in “Journal of The American Academy of Dermatology” This article discusses the uncertainty regarding distinct skin findings and cardiometabolic profiles among PCOS subtypes and reports no new clinical data.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observes that TYK2 inhibition with BMS-986202 may extend hair follicle growth phases and decrease inflammatory cell markers in alopecia areata, suggesting potential for clinical application.
54 citations
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May 2015 in “Endocrinology” In this study, manipulation of the enzyme 5α-reductase type 2 in human hepatocytes altered lipogenesis, suggesting clinical implications for patients using 5α-reductase inhibitors by affecting glucocorticoid action on hepatic lipid metabolism.
15 citations
,
October 2012 in “Journal of child neurology” 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.
September 2021 in “European Neuropsychopharmacology” This study found that higher dihydrotestosterone (DHT) levels in the parietal region of the scalp may be linked to androgenetic alopecia's clinical presentation.