research Common Forms of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
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390-420 / 1000+ resultsresearch Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Laporan Kasus <i>Acrodermatitis Enteropathica </i>pada Anak 5 Tahun dengan Level Zink Serum Normal
Acrodermatitis enteropathica can occur even with normal zinc levels, and zinc supplements can improve symptoms.
research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases
PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research Anaphylactic Shock Due to Intravenous Amiodarone; Delusional Parasitosis Associated with Donepezil; Connubial Androgenetic Alopecia; Ciprofloxacin-Induced Torsade de Pointes; Postvaccination Miller Fisher Syndrome; Life-Threatening Anaphylactoid Shock Caused by Recombinant Tissue Plasminogen Activator; Thiazide-Induced Hyponatremia
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research The RATIOnal Role of Polyamines in Epidermal Differentiation
Adjusting polyamine levels could help treat skin disorders like psoriasis and skin cancer.
research Newly emerging type B insulin resistance (TBIR) during treatment with eculizumab for AQP4-IgG-positive neuromyelitis optica spectrum disorder (NMOSD): fatal outcome
A patient with a nerve disorder died from infection complications after developing insulin resistance from a treatment.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
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 34 A patient with insulin-dependent diabetes mellitus 1 year after being diagnosed with membranous glomerulonephritis
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
research [A case of "syndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)" treated with steroid pulse therapy].
Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
research Audiological abnormalities in patients with alopecia areata
People with alopecia areata may be more likely to have a certain type of hearing loss.
research Current evaluation of amenorrhea
The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research 1385 Characterizing the expression of metabolic markers in alopecia areata
The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research 69-Year-Old Man With Nasal Congestion and Pre-Syncope
A 69-year-old man with sinus infection and fainting spells was diagnosed with a rare kidney disease, treated with steroids and a specific drug, which improved his condition.
research SAT-435 When The Cure Becomes The Cause: Adrenal Insufficiency In Cushing’s Management
Careful dosing and monitoring are crucial to prevent adrenal insufficiency when using ketoconazole for Cushing's disease.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Current evaluation of amenorrhea
Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.