research Female Pattern Hair Loss in a Patient with 17?-hydroxylase Deficiency
Low androgen levels can still cause female pattern hair loss.
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research PSAT217 Estrogen Deficiency as a Cause of Decreased 1- alpha - hydroxylase Activity
Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.
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 Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
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.
research Hyperandrogenic eumenorrheic NON-PCOS women versus women with PCOS after the GnRH-agonist stimulation test preceded by suppression of adrenal steroidogenesis with dexamethasone
PCOS women have more severe metabolic issues and higher androgen levels than hyperandrogenic women without PCOS.
research 8368 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 Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research Bleeding tendency with corkscrew hair
Low vitamin C caused bleeding and corkscrew hair, resolved with vitamin C treatment.
research Ornithine decarboxylase activity in relation to DNA synthesis in mouse interfollicular epidermis and hair follicles
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Cutaneous hydroxystereoid dehydrogenases and rat-hair-cycle
Certain enzymes react strongly with some hormones in rat skin during hair growth, mainly in sebaceous glands and hair sheaths.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
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 Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Case report: Pseudoporphyria in a 56-year-old man as a result of finasteride intake
Finasteride may cause pseudoporphyria, a blistering skin condition.
research A novel regio-specific cyclosporin hydroxylase gene revealed through the genome mining of Pseudonocardia autotrophica
Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Inhibition of the development of metastatic squamous cell carcinoma in protein kinase C epsilon transgenic mice by alpha-difluoromethylornithine accompanied by marked hair follicle degeneration and hair loss.
Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Induction of ornithine decarboxylase in specific subpopulations of murine epidermal cells following multiple exposures to 12-O-tetradecanoylphorbol-13-acetate, mezerein and ethyl phenylpropriolate
TPA strongly increases ODC activity in certain skin cells, potentially aiding tumor growth.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.