research The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.
Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
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210-240 / 1000+ resultsresearch Phenotypic and Endotypic Determinants of Atopic Dermatitis Severity From the Atopic Dermatitis Research Network (ADRN) Registry
research Elevated Dehydroepiandrosterone Sulfate Levels as the Reproductive Phenotype in the Brothers of Women with Polycystic Ovary Syndrome
Brothers of women with PCOS tend to have higher levels of a hormone called DHEAS, indicating a possible genetic link.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research MicroRNA Species in Follicular Fluid Associating With Polycystic Ovary Syndrome and Related Intermediary Phenotypes
Certain microRNAs in the fluid around eggs are linked to Polycystic Ovary Syndrome and may help diagnose it.
research Variations in alanine aminotransferase levels within the normal range predict metabolic and androgenic phenotypes in women of reproductive age
Normal-range ALT levels can indicate metabolic and hormonal imbalances in young women.
research Traditional and Integrative Approaches to the Treatment of Alopecia
Alopecia treatment should use a modern, combined approach to effectively address hair loss.
research Topical niacinamide 4% and desonide 0.05% for treatment of axillary hyperpigmentation: a randomized, double-blind, placebo-controlled study
Desonide is more effective than niacinamide for reducing underarm darkening.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Cytokine profiling of alopecia areata phenotypic subsets
Higher levels of IL-1a and IL-1RA were found in severe alopecia areata cases.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research Androgen Levels Do Not Predict PCOS Phenotypes in Adolescents and Young Adults
Androgen levels do not determine the type of PCOS symptoms in young females.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research Clinical aspects of the metabolic syndrome
Losing weight and eating better are key to managing metabolic syndrome and its related conditions.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research A Simple Screening Approach for Assessing Community Prevalence and Phenotype of Polycystic Ovary Syndrome in a Semiurban Population in Sri Lanka
A simple screening method found that 6.3% of women in a semiurban area in Sri Lanka have polycystic ovary syndrome, with most showing menstrual irregularities.
research Clinical perspectives on the age-related increase of immunosuppressive activity
Aging and chronic inflammation weaken the immune system, increasing cancer and infection risks.
research Insulin resistance and obesity among infertile women with different polycystic ovary syndrome phenotypes
Women with PCOS are more likely to have insulin resistance and obesity, especially those with the most severe type I PCOS.
research 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Clinical use of 5α-reductase inhibitors
Finasteride effectively treats hair loss and enlarged prostate in men, with mild side effects.
research Clinical Research Progress on Plum-Blossom Needle Combined Therapy for Androgenic Alopecia
Plum-blossom needle therapy shows promise for treating hair loss but needs more research.
research CLINICAL PROFILE AND OUTCOMES OF PATIENTS WITH POLYCYSTIC OVARIAN SYNDROME
Individualized treatment improves symptoms and quality of life for women with PCOS.
research Clinical Findings, Response to Steroid Treatment, and Recurrence Rate in Alopecia Areata Patients with or without a Nonsynonymous Variant of Coiled-Coil Alpha-Helical Rod Protein 1
Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Clinical, histopathological and immunological characteristics of exfoliative cutaneous lupus erythematosus in 25 German short‐haired pointers
A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Clinical application of 5α-reductase inhibitors
5α-reductase inhibitors, like finasteride and dutasteride, effectively treat BPH, male baldness, and hirsutism, with potential for acne and prostate cancer prevention.
research Clinical characteristics of polycystic ovary syndrome: investigating differences in White and South Asian women
South Asian women with PCOS present with different symptoms compared to White women, influenced by ethnicity, obesity, and age.