research 46,XY DSD Due to Impaired Androgen Production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
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research Human Type 3 5α-Reductase Is Expressed in Peripheral Tissues at Higher Levels Than Types 1 and 2 and Its Activity Is Potently Inhibited by Finasteride and Dutasteride
Type 3 5α-reductase is more common and finasteride and dutasteride strongly inhibit it.
research Hoxc-Dependent Mesenchymal Niche Heterogeneity Drives Regional Hair Follicle Regeneration
Hoxc genes control hair growth through Wnt signaling.
research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Keratin Function and Regulation in Tissue Homeostasis and Pathogenesis
Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: A Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Autosomal Recessive Hypotrichosis Simplex With Woolly Hair: A Report of a New Family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
research Mouse Models for the Study of Human Hair Loss
Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
research Finasteride Inhibits 5α-Reductase Activity in Human Dermal Fibroblasts: Prediction of Its Therapeutic Application in Androgen-Related Skin Diseases
Finasteride helps treat skin issues like acne and baldness by blocking testosterone conversion.
research A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Clinical Biochemistry of Dihydrotestosterone
Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
research Genetics and Other Factors in the Etiology of Female Pattern Hair Loss
Female pattern hair loss has unclear causes, possibly involving genetics, hormones, and environment, and needs better treatments.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research A Rare Case of Acrodermatitis Enteropathica in a One-Year-Old Child
A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
research Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Adult Patients with Aphallia: Were They Fertile?
The document does not determine if adults with aphallia are fertile.
research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research A Polygenic Mouse Model of Psoriasiform Skin Disease in CD18-Deficient Mice
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research Diagnosis and Management of Infertility Due to Anovulation
The conclusion is that lifestyle changes and weight loss are first-line treatments for infertility due to anovulation, with various medications and assisted reproductive technologies as additional options.
research Recent Advances in the Genetics of Alopecia Areata
New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
research Eph Receptors and Ephrins: Therapeutic Opportunities
Eph receptors and ephrins may be promising targets for treating diseases, but more understanding is needed for effective and safe therapies.
research Cloning of Wrinkle-Free, a Previously Uncharacterized Mouse Mutation, Reveals Crucial Roles for Fatty Acid Transport Protein 4 in Skin and Hair Development
Fatty acid transport protein 4 is essential for skin and hair development.
research Perspectives of Kennedy's Disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Peroxisome Proliferator-Activated Receptors (PPARs) and PPAR Agonists: The Future in Dermatology Therapeutics?
PPAR agonists show promise for skin conditions but need more research before being a main treatment.
research Scalp Hair Characteristics in the Newborn Infant
Assessing newborn scalp hair can reveal important health information.
research Synaptic Processes and Immune-Related Pathways Implicated in Tourette Syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research A Study on the Efficacy of Oral Zinc Therapy for the Treatment of Acrodermatitis Enteropathica
Oral zinc therapy is effective for treating acrodermatitis enteropathica.