research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
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research Rat steroid 5α-reductase kinetic characteristics: Extreme pH-dependency of the type II isozyme in prostate and epididymis homogenates
The activity of a specific rat enzyme in the prostate and epididymis is highly dependent on the acidity level.
research Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
research Structural characterization and dissolution profile of mycophenolic acid cocrystals
The MPA-ISO cocrystal improved solubility and dissolution rate, while the others did not.
research Validated HPTLC method for the simultaneous determination of alfuzosin, terazosin, prazosin, doxazosin and finasteride in pharmaceutical formulations
Method can accurately measure five BPH drugs at once.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Hydroxysteroid Dehydrogenase (17β -HSD3, 17β-HSD5, and 3α-HSD3) Inhibitors:Extragonadal Regulation of Intracellular Sex Steroid Hormone Levels
Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
Classical PCOS types A and B are most common and linked to higher health risks.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review
The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
research Cinnamomi Cortex (Cinnamomum verum) Suppresses Testosterone-induced Benign Prostatic Hyperplasia by Regulating 5α-reductase
Cinnamomi cortex may help treat prostate enlargement by reducing related proteins.
research Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Metabolic Effect at Six and Twelve Months of Cyproterone Acetate (2 mg) Combined with Ethinyl Estradiol (35 μg) in 31 Patients
The medication combination did not affect glucose tolerance but increased some cholesterol levels due to its estrogen component.
research Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome
Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
research FORMULATION AND EVALUATION OF CONTROLLED RELEASE MATRIX TABLETS OF FINASTERIDE
The F9 formulation of Finasteride tablets, using Eudragit, successfully controlled drug release.
research Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Further errors in polymorph identification: furosemide and finasteride
Errors found in identifying furosemide and finasteride polymorphs due to incomplete data.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.