research Aromatase Deficiency in a Male Patient: Case Report and Literature Review
A male with aromatase deficiency improved bone health with estradiol treatment.
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research The Metabolic Syndrome-Associated Small G Protein ARL15 Plays a Role in Adipocyte Differentiation and Adiponectin Secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Regulatory T Cells: The Many Faces of Foxp3
Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research Steroidogenesis of the Testis: New Genes and Pathways
New genes and pathways are important for testosterone production and male sexual development.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Lamins in Development, Tissue Maintenance, and Stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research 46,XY DSD Due to Impaired Androgen Production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research How to Diagnose a Lipodystrophy Syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) Syndrome: A Case Report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Co-Occurrence of Monilethrix and Type 1 Diabetes Mellitus
The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research Premature Aging Syndromes: From Patients to Mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Role of FOXN1 in Xenopus Laevis Thymopoiesis
FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Expression of Foxi3 Is Regulated by Ectodysplasin in Skin Appendage Placodes
Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
research A Case of Red Lunulae After Hematopoietic Stem Cell Transplantation
Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Desferrioxamine Treatment of Aceruloplasminemia: Long-Term Follow-Up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Pathological Findings in a Case of Stiff Person Syndrome with Anti-GAD Antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.