research Novel Presentation of a Heterozygous INSR Mutation and Markedly Elevated Testosterone Levels in a Pediatric Patient: A Case Report
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
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research Nonclassic Adrenal Hyperplasia: Clinical Features, Diagnosis, and Treatment
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Vitamin A Toxicity: When One a Day Doesn't Keep the Doctor Away
Vitamin A toxicity can cause severe health issues and may require a liver transplant if other treatments fail.
research Frontal Fibrosing Alopecia: A Case Series of 65 Patients Seen in a Single Italian Centre
The study concluded that severity of Frontal fibrosing alopecia is not linked to how long someone has it, can start before menopause, and eyebrow loss may be an early sign.
research Two Clinically Unusual Cases of Folliculotropic Mycosis Fungoides: One with and the Other without Syringotropism
Some cases of folliculotropic mycosis fungoides may progress slowly and not need aggressive treatment.
research Werner's Syndrome: Incidental Finding During Pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research A Pure Androgen-Secreting Adrenal Cortical Tumor in a 13-Year-Old Female
A 13-year-old girl's masculine symptoms improved after surgery for a rare adrenal tumor that produced male hormones.
research The JAK/STAT Signaling Pathway: From Bench to Clinic
The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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 Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Pathophysiology, Diagnosis, and Treatment
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research Intense Pulsed Light: From the Past to the Future
Future clinical uses of Intense Pulsed Light (IPL) are likely to grow and become more effective with new advancements and combined treatments.
research Pediatric Androgenetic Alopecia: A Retrospective Review of Clinical Characteristics, Hormonal Assays, and Metabolic Syndrome Risk Factors in 23 Patients
Androgenetic alopecia in teens is linked to obesity and other metabolic risks, needing early diagnosis and management.
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.
research Frontal Fibrosing Alopecia: A Decade of Insights
The document says doctors should identify and treat Frontal fibrosing alopecia medically before considering surgery, as treatments often don't work well.
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 New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
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 Premature Adrenarche: Early Maturation of Adrenal Glands in Children
Early adrenal gland maturation in young children can be normal, but other serious conditions should be ruled out first.
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 A Case of Scarring Alopecia
The woman was diagnosed with lichen planopilaris and can be treated with corticosteroids.
research Management of Acne
Acne treatment varies, with topical and systemic therapies effective, and more research needed on treatment order and long-term effects.
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 Diagnostic and Therapeutic Assessment of Frontal Fibrosing Alopecia
The document concludes that there are no reliable treatments for frontal fibrosing alopecia, with only temporary benefits from current options.
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 Thyroid Autoimmunity in Patients with Skin Disorders
People with alopecia areata often have thyroid autoimmunity.
research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research End of Activity of Any Type of Active Welding by Low-Level Laser Therapy (LLLT) Specialized Method
Low-level laser therapy is a safe, painless method that effectively treats acne and improves skin without post-treatment care.
research Computer-Based Screening of Selected Phytoconstituents from Cyperus Rotundus Linn. Against 5 Alpha Reductase Enzyme
Phytoconstituents from Cyperus Rotundus may help treat hirsutism by interacting with the 5 α reductase enzyme.
research Acne Protection: Measures and Miseries
Acne can be managed with various treatments and requires psychological support due to its emotional impact.