research An Update on Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
Search
for
Sort by
Research
810-840 / 1000+ results 
research Adult Polycystic Ovary Syndrome Begins in Childhood
Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries
Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.
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 Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Peripheral Blood Gene Expression in Alopecia Areata Reveals Molecular Pathways Distinguishing Heritability, Disease, and Severity
Blood tests can help understand the genetic differences in people with alopecia areata, including how severe it is and if it's inherited.
research Concurrent Follicular Dysplasia and Interface Dermatitis in Boxer Dogs
Boxer dogs may have a genetic skin condition that worsens seasonally and can be treated with certain medications.
research De Novo Assembly and Annotation of Asiatic Lion (Panthera Leo Persica) Genome
The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research The Relation Between Androgenetic Thin Hair Diagnosed by Trichoscope and Benign Prostatic Hyperplasia
Men with thinner hair from genetic hair loss may be more likely to have an enlarged prostate.
research A Case of Ayme-Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Prioritizing Susceptibility Genes for the Prognosis of Male-Pattern Baldness with Transcriptome-Wide Association Study
The research identified genes linked to male-pattern baldness and potential drug targets for treatment.
research Color Dilution Alopecia in a Yorkshire Terrier
The Yorkshire terrier has a genetic hair loss condition not improved by treatment.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Bamboo Hair Syndrome or Netherton Syndrome: A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research A Community-Oriented Survey on the Association Between Androgenetic Alopecia and Metabolic Syndrome in Chinese People
Severe hair loss in Chinese men is linked to high blood pressure, while in women, it's linked to larger waist size and cholesterol issues.
research Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases
research Maternal Nutrition at Conception Modulates DNA Methylation of Human Metastable Epialleles
A mother's diet at conception can cause lasting genetic changes in her child.
research Inherited Epidermolysis Bullosa: Clinical and Therapeutic Aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Ulcerative Colitis and Total Alopecia in a Mother and Her Son
A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research It's X-Related: Biological Bases of Increased COVID-19 Morbidity and Mortality in Men
Men have worse COVID-19 outcomes than women due to genetic and hormonal differences.
research Case Report: A Study of the Clinical Characteristics and Genetic Variants of Post-Finasteride Syndrome Patients
Finasteride may cause lasting sexual and mental health issues, and genetic screening could help prevent them.
research Polycystic Ovary Syndrome: Etiology, Pathogenesis, and Diagnosis
The document concludes that PCOS is a complex disorder caused by both genetic and environmental factors, affecting women's health in various ways, and requires personalized treatment.
research Developmental Origin of Polycystic Ovary Syndrome: A Hypothesis
The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.