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.
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30-60 / 1000+ resultsresearch Hair Follicle-Related MicroRNA-34a Serum Expression and rs2666433A/G Variant in Patients with Alopecia: A Cross-Sectional Analysis
Higher miR-34a levels and the A variant of the MIR-34A gene are linked to increased risk and severity of alopecia areata.
research Early Onset Female Pattern Hair Loss: A Case-Control Study for Analyzing Clinical Features and Genetic Variants
Early onset female hair loss is linked to lower hair density, scalp issues, and certain genetic factors.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans
The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Birt–Hogg–Dubé Syndrome: A Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Comparison of the Effectiveness of Different Snare Types for Collecting and Retaining Hair from Eurasian Lynx (Lynx lynx)
Wire brush snares are best for collecting Eurasian Lynx hair for DNA analysis.
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 Androgen Receptor Gene Polymorphisms and Risk for Androgenetic Alopecia: A Meta-Analysis
G allele of AR Stul polymorphism linked to higher hair loss risk, especially in white people.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Salt-Losing Tubulopathy and Chronic Dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
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 Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Heterozygous 21-Hydroxylase Deficiency as a Cause of Hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research When Acne, Hirsutism, and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research A 9-Month-Old Infant with Severe Scalp Dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research An Adolescent Girl Presenting With Primary Amenorrhea: A Case Report of Complete Androgen Insensitivity Syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
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 Eruptive Vellus Hair Cysts: A Systematic Review
Eruptive vellus hair cysts are a cosmetic skin condition, more common in young adults, with few effective treatments.
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 Comprehensive Transcriptome Profiling Between Balding and Non-Balding Scalp of Female Pattern Hair Loss in Asian
SFRP2 and PTGDS may be key factors in female hair loss.
research The First Visit: Consultation and Workup Before Sperm Banking
A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
research A Study of the Androgen Receptor Gene Polymorphism and the Level of Expression of the Androgen Receptor in Androgenetic Alopecia Among Egyptians
The study suggests that a specific gene variation and higher gene activity are linked to increased baldness in Egyptian men.
research DNA Phenotyping: Current Application in Forensic Science
DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research WNT10A Gene Variants at the Root of Short Anagen Hair Syndrome
WNT10A gene mutations cause short anagen hair syndrome.
research Factors Associated With Early-Onset Androgenetic Alopecia: A Scoping Review
Early-onset baldness is linked to genetics, lifestyle, and can indicate higher risk for heart and metabolic diseases, and affects mental health.