research Effects of dihydrotestosterone on osteoblast activity in curdlan-administered SKG mice and osteoprogenitor cells in patients with ankylosing spondylitis
DHT inhibition may increase spinal bone growth in ankylosing spondylitis.
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research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Oxidative Stress in Alopecia Areata and its Association with Disease Severity, Treatment and Autoimmunity
Corticosteroids may not effectively control oxidative stress in alopecia areata, possibly leading to relapses.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
research Screening Guidelines for Thyroid Function in Children With Alopecia Areata
Children with alopecia areata should only have thyroid screening if they have Down syndrome, a history of atopy, family history of thyroid disease, or signs of thyroid problems.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Vitamin D deficiency in patients with alopecia areata: A systematic review and meta-analysis
Alopecia areata patients often have low vitamin D levels.
research Mechanisms of Disease: selective inhibition of 11β-hydroxysteroid dehydrogenase type 1 as a novel treatment for the metabolic syndrome
Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
research Vitamin D‐dependent rickets Type II with alopecia: two case reports and review of the literature
Vitamin D-dependent rickets Type II causes bone problems and hair loss, and doesn't improve with Vitamin D treatment.
research ODP408 Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: a Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research Roles of Type 10 17beta-Hydroxysteroid Dehydrogenase in Intracrinology and Metabolism of Isoleucine and Fatty Acids
This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease
Managing multiple autoimmune diseases in one patient is extremely challenging.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Investigation of oxidative stress in patients with alopecia areata and its relationship with disease severity, duration, recurrence and pattern
Oxidative stress may play a role in causing alopecia areata.
research New Nonsteroidal Molecules as Blockers of the Steroidogenic Pathway
New nonsteroidal molecules can potentially increase dihydrotestosterone in neurons by blocking certain enzymes, without affecting prostate and seminal vesicle weight.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Hypervitaminosis A in a patient with alopecia receiving renal dialysis
Patients with renal disease should be cautious with vitamin A supplements due to risk of toxicity.
research Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia
Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Alopecia Universalis in an Elderly Chinese Man Induced by Sacubitril/Alisartan, a Novel Angiotensin Receptor-Neprilysin Inhibitor
An elderly Chinese man lost all his hair after taking a new heart medication.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Serum level of vitamin D in patients with alopecia areata
Alopecia areata patients have lower vitamin D levels than healthy individuals.
research Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.