research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
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research CaBP1 and 2 Enable Sustained CaV1.3 Calcium Currents and Synaptic Transmission in Inner Hair Cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research Gene-Knockout Mice With Abnormal Epidermal and Hair Follicular Development
Knocking out certain genes in mice helps understand skin and hair growth problems.
research Can AMH Levels Distinguish LOCAH from PCOS Among Hirsute Women?
AMH levels can't reliably tell the difference between LOCAH and all types of PCOS in women with excessive hair growth.
research Trichoscopy in Genetic Hair Shaft Abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research The Role of Mimicking Growth Factors to Control Anagen Phase: Evaluation In Vitro and In Vivo
Mimicking growth factors in a topical solution can prolong hair growth phase and reduce hair loss without side effects.
research Acquired Acrodermatitis Enteropathica in a 28-Year-Old Male with Type 1 Diabetes
A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.
research A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia Among Women Presenting with Hyperandrogenic Symptoms and Signs
About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
research Diagnosis of Polycystic Ovary Syndrome
The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.
research Navaratnas in Dermatology
Gemstones are used to help describe and remember skin conditions.
research Genetics of Alopecia
Different genes are linked to various types of hair loss.
research Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment
The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
research Mast Cell Hyperplasia in the Skin of Dsg4-Deficient Hypotrichosis Mice, Long-Living Mutants of Lupus-Prone Mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
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 Endocrinology and Auxology of Siblings with Non-Classical Congenital Adrenal Hyperplasia
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Curcumin Derivatives Inhibit Testicular 17β-Hydroxysteroid Dehydrogenase 3
Curcumin and its derivatives can block an enzyme important for making testosterone, with one derivative being particularly strong.
research A Rare Case of Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Inhibition of Steroid 5 Alpha-Reductase with Finasteride: Sleep-Related Erections, Potency, and Libido in Healthy Men
Finasteride doesn't affect erections much, but may decrease libido in men.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Cerebellar Hypoplasia, Hypergonadotrophic Hypogonadism, Retinitis Pigmentosa, Alopecia, Microcephaly, Psychomotor Retardation, and Short Stature: D-CHRAMPS Syndrome
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia
Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Ichthyosis Linearis Circumflexa in a Child: Response to Narrowband UVB Therapy
Narrowband UVB therapy significantly improved a child's rare skin condition.