research Pachyonychia congenita: Sporadic onset with mutation analysis
A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
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510-540 / 1000+ results research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Do Different Diagnostic Criteria Impact Polycystic Ovary Syndrome Diagnosis for Adolescents?
Different diagnostic criteria greatly affect PCOS diagnosis rates in teenagers.
research CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
research Finasteride/testosterone
research Serum androgen bioactivity is low in children with premature adrenarche
research Avaliação da estabilidade da Finasterida, estudos de compatibilidade fármaco-excipientes e controle de qualidade das formulações farmacêuticas sólidas do mercado
Finasteride is stable except in high pH, and lactose and magnesium stearate should be replaced in formulations.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Awareness about PCOS and the Likelihood of Its Symptoms in Adolescent Girls in a Semi-Urban Set-Up: A Cross Sectional Study
Only 22% of teenage girls in the study knew about PCOS, despite many having symptoms.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Finasteride
research P22-023-23 Pilot Study Protocol on Application of Non-Invasive Vitamin D Hair Test and Screening E-Tool for Indigenous Populations in the Great Northern Plains
research Normal Pubertal Development: Part II: Clinical Aspects of Puberty
Accurate assessment of puberty using Tanner staging is crucial for identifying normal and abnormal development.
research Elemental content of anagen hairs in a normal Caucasian population studies with proton induced X-ray emission (PIXE).
PIXE is an effective method to analyze hair's elemental composition.
research Androgen Levels Do Not Predict PCOS Phenotypes in Adolescents and Young Adults
Androgen levels do not determine the type of PCOS symptoms in young females.
research Acne, Hirsutism, and Alopecia in Adolescent Girls: Clinical Expressions of Androgen Excess
research Evaluation of the rodent Hershberger assay using three reference endocrine disrupters (androgen and antiandrogens)
The assay effectively detects hormonal activity of certain chemicals.
research Adolescent acne: association to sex, puberty, testosterone and dihydrotestosterone
Higher DHT levels are linked to more acne in adolescents, especially boys.
research A hedonic response to an assay made on octogenarians using cosmetics that promise to donate comfort, attractiveness and youth
Using cosmetics made elderly people feel more comfortable and attractive.
research Correlation between biochemical and clinical hyperandrogenism parameter in polycystic ovary syndrome in relation to age
The link between physical signs of high male hormones and hormone levels in women with PCOS changes with age.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Central Obesity and BMI Associated with Different Phenotypes of Polycystic Ovary Syndrome in Adolescent
Obesity and BMI don't differ among PCOS types, but teens should learn about long-term health risks.
research ANÁLISE MICROBIOLÓGICA DE MATÉRIAS-PRIMAS E FORMULAÇÕES DE UMA FARMÁCIA DE MANIPULAÇÃO NA CIDADE DE VENÂNCIO AIRES/RS
The compounding pharmacy in Venâncio Aires generally follows good practices, with only the Paracetamol sample showing significant microbial growth.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Study on Changes of 19 Steroids in Plasma From 9 Diagnosed Patients With P450 Oxidoreductase Deficiency
Certain hormone levels can help diagnose P450 oxidoreductase deficiency.
research Proton Affinitive Derivatization for Highly Sensitive Determination of Testosterone and Dihydrotestosterone in Saliva Samples by LC-ESI-MS/MS
Using 5-butylpicolinate esters improves the sensitivity and reliability of detecting testosterone and dihydrotestosterone in saliva.
research Clinical evolution of alopecia areata with a male androgenetic alopecia pattern to sisaipho.
A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
research Precocious Puberty: A Case Report
Early diagnosis and treatment with Leuprolide are key for children with precocious puberty.
research OR2AT4, an Ectopic Olfactory Receptor, Suppresses Oxidative Stress-Induced Senescence in Human Keratinocytes
OR2AT4 helps reduce aging and cell damage in human skin cells.