research Current evaluation of amenorrhea
Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
Search
for
Sort by
Research
720-750 / 1000+ results research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research The Case Files
The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Overexpression of aldo-keto reductase 1C3 (AKR1C3) in LNCaP cells diverts androgen metabolism towards testosterone resulting in resistance to the 5α-reductase inhibitor finasteride
Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
research Amphetamine and N-Acetylamphetamine Incorporation into Hair: An Investigation of the Potential Role of Drug Basicity in Hair Color Bias*
Basic drugs like amphetamine are absorbed more in darker hair than lighter hair.
research Studies on lysosomes—XIII
Stilbamidine and hydroxystilbamidine inhibit enzyme release from lysosomes and have effects similar to cortisol and chloroquine.
research Niacin deficiency increases the sensitivity of rats to the short and long term effects of ethylnitrosourea treatment.
Niacin deficiency makes rats more sensitive to cancer-causing chemicals.
research Evaluation of Adipocyte Fatty acid Binding Protein (A-FABP) Serum Level in Male Androgenetic Alopecia Patients
Men with male pattern baldness have higher levels of A-FABP, which might help in early detection.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Image 2_Associations between ionomic profile and metabolic abnormalities in a murine model of sodium sulfide induced alopecia areata.tif
Linoleic acid and magnesium are key in alopecia areata progression, and tofacitinib can help by affecting their pathway.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Ashy dermatosis: Treatment with clofazimine
Clofazimine successfully treated a man's ashy dermatosis, clearing his skin lesions.
research A RARE CASE OF VITAMIN D DEPENDENT RICKETS TYPE-2A PRESENTED AS ALOPECIA TOTALIS
Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.
research Sulfur Containing Tyrosine Analogs Can Cause Selective Melanocytotoxicity Involving Tyrosinase-Mediated Apoptosis
research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
research Androgenetic Alopecia and Metabolic Syndrome: Is Alarin a Missing Link?
Higher alarin levels might link hair loss and metabolic syndrome.
research Methazolamide
A girl's hair loss from a pharmacy error improved after getting the right medicine.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Lithium: one drug, five complications
Lithium poisoning can cause severe health complications and requires careful monitoring.
research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
research Untargeted metabolomics analysis of plasma metabolic characteristics in patients with acne and insulin resistance
Patients with acne and insulin resistance have different blood metabolites compared to those with only acne, which could help in diagnosis and treatment.
research Pure linoleate deficiency in the rat: influence on growth, accumulation of n-6 polyunsaturates, and [1-14C]linoleate oxidation
Linoleate deficiency in rats reduces growth and n-6 polyunsaturate accumulation, causing mild symptoms.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Relapsing Hepatitis A: An Asymptomatic Recurrence of Elevated Liver Chemistries
Relapsing hepatitis A can cause prolonged abnormal liver tests even without symptoms.
research Untreated Congenital Adrenal Hyperplasia Presenting with Severe Androgenic Alopecia
Untreated Congenital Adrenal Hyperplasia can cause severe hair loss due to high androgen levels.