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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research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Premature Greying of Hair (Premature Canities): A Concern for Parent and Child
Genetics, stress, and health issues can cause early hair greying, which affects self-esteem, and there's no cure, only hair dye.
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 Delleman Syndrome or Haberland Syndrome? Diagnostic Criteria and Clinical Features
The symptoms described align more with Haberland syndrome, not Delleman-Oorthuys syndrome.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research The Role of Hormonal Imbalances in Amenorrhea
Hormonal imbalances are a key cause of missed menstrual periods in women.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research The Laboratory in the Multidisciplinary Diagnosis of Differences or Disorders of Sex Development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Adult Onset Isolated Hypogonadotropic Hypogonadism: A Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research Specific Ectodermal Enhancers Control the Expression of Hoxc Genes in Developing Mammalian Integuments
The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
research Perspectives of Alopecia Behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype
The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
research Glossary
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical 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 Minoxidil
Minoxidil is effective for hair growth and safe for long-term use.
research Dermatological Drugs and Topical Agents
Certain skin drugs and topical agents, including some natural extracts and fragrances, can cause allergic reactions. Some hair dyes and extensions, as well as minoxidil, a hair growth treatment, can also cause allergies. Botulinum toxin A can effectively reduce sweat but may have temporary side effects.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Non-Motor Comorbidity of Myasthenia Gravis: Myasthenia Gravis as a Systemic Immunological Disorder Involving Non-Motor Systems
Myasthenia gravis can affect both motor and non-motor systems due to immune system issues.
research Role of FOXN1 in Xenopus Laevis Thymopoiesis
FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
research Comparison of Efficacy of Platelet-Rich Plasma Therapy With or Without Topical 5% Minoxidil in Male-Type Baldness: A Randomized, Double-Blind Placebo Control Trial
PRP combined with minoxidil is the most effective and safe treatment for male pattern baldness.
research Immune-Mediated Coombs Negative Intravascular Hemolysis in Systemic Lupus Erythematosus
A woman with lupus had blood cell destruction, treated successfully with medication.
research SUN-287: A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Effect of Platelet Counts and Activator in Platelet-Rich Plasma on the Treatment of Androgenetic Alopecia, Split-Head Comparison: A Randomised, Double-Blind Study
Higher platelet counts and activators in PRP improve hair density and thickness in treating hair loss.
research The Effect of Platelet-Rich Plasma in Hair Regrowth: A Randomized Placebo-Controlled Trial
Platelet-rich plasma injections significantly improved hair regrowth and thickness in patients with hair loss.
research The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target During Hair Follicle and Nail Differentiation
HOXC13 is essential for hair and nail development by regulating Foxn1.
research Alopecia and Associated Toxic Agents: A Systematic Review
Thallium, mercury, selenium, and colchicine strongly cause hair loss.
research Teratogenic Effect of Isotretinoin in Both Fertile Females and Males: A Review
Isotretinoin can cause serious birth defects and needs careful use, especially in pregnant women.