research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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90-120 / 1000+ results research Alopecia and Associated Toxic Agents: A Systematic Review
Thallium, mercury, selenium, and colchicine strongly cause hair loss.
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 Dermatologic Changes in Experimental Model of Long COVID
Mice with a virus similar to COVID-19 had skin damage, but a special treatment helped repair it.
research Blank Spots in the Map of Human Skin: The Challenge for Xenotransplantation
Human skin xenografting could improve our understanding of skin development, renewal, and healing.
research Metastatic Embryonal Cell Carcinoma with High Testosterone and Absence of Secondary Sexual Characteristics
Treatment restored normal sexual characteristics and blood condition in a patient with testicular cancer.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Delayed Puberty: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Steroids And Steroid-Like Compounds
Athletes use steroids to enhance performance despite health risks and legal issues, and education on their dangers is needed.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Eyebrow Loss
Eyebrow loss has many causes and requires accurate diagnosis for proper treatment.
research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition
The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Steroidogenesis of the Testis: New Genes and Pathways
New genes and pathways are important for testosterone production and male sexual development.
research Addisonian Crisis in a Young Man with Atypical Anorexia Nervosa
A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
research Polycystic Ovary Syndrome: Features, Diagnostic Criteria, and Treatments
PCOS is a long-term condition that needs more research for better understanding and treatment.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Gonads
The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
research New York Academy of Medicine, Section of Dermatology and Syphilology
Diagnosing and treating skin conditions is challenging, especially when drug reactions mimic other diseases.
research Hidradenitis Suppurativa: A Practical Review of Possible Medical Treatments Based on Over 350 Hidradenitis Patients
Different treatments for Hidradenitis suppurativa range from antibiotics and hormonal therapies to surgery, depending on severity.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research A Comparison of Morphometric Features of Scalp Hair Among Different Regions of India
Scalp hair characteristics vary across different regions of India and can help identify a person's origin.
research Signaling and Gene Expression for Water-Tolerant Legume Nodulation
The tropical legume Sesbania rostrata can form nodules in waterlogged conditions using a different method that involves plant hormones and specific genes.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Whole-Genome SNP Genotyping Mapped a Novel Locus for Hereditary Hypotrichosis on Chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research A Papular Eruption on the Face: A Distinct Subtype of Lichen Planopilaris?
A rare skin condition affected only the facial hair of a 46-year-old man.