research Pre‐polycystic ovary syndrome and polymenorrhoea as new facets of polycystic ovary syndrome (PCOS): Evidences from a single centre data set
Polymenorrhoea should be included in PCOS diagnostic criteria due to similar metabolic issues.
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research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Polycystic Ovary Syndrome Phenotypes and Infertility Treatment
Different PCOS types respond uniquely to infertility treatments, with some having lower pregnancy rates and higher risks of complications.
research Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Abstract 3889: Cyclin-dependent kinase 4 levels affect the number of hair follicle stem cells in mouse epidermis
CDK4 levels affect the number of hair follicle stem cells in mice.
research Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata
JAK inhibitors helped treat hair loss in two people with Down syndrome.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research Birth Outcomes of Infants Born to Mothers with Alopecia Areata: A Nationwide Population-based Study in Korea
Mothers with alopecia areata have a higher risk of adverse birth outcomes.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A certain gene variation can affect protein production and is linked to male pattern baldness.
research Hyperandrogenism in a postmenopausal woman: a rare case of ectopic adrenal cortical gland
A postmenopausal woman's excess male hormone symptoms were caused by a rare adrenal gland tissue in her ovary.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Skin regional specification and higher-order HoxC regulation
A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
research Decision letter: NuMA-microtubule interactions are critical for spindle orientation and the morphogenesis of diverse epidermal structures
NuMA-microtubule interactions are vital for proper skin structure formation and function.
research Acne Tarda and Male-Pattern Baldness Unmasking Primary Ovarian Insufficiency: A Case and Review
A woman with acne and baldness was found to have a rare ovarian condition but successfully had a child through fertility treatment.
research Drug-Induced Alopecia Areata From Upadacitinib
Upadacitinib may cause hair loss.
research 210 THE NEW APPROACH TO EARLY DIAGNOSIS OF ADENOMYOSIS
A new method can almost perfectly distinguish adenomyosis from similar conditions using blood tests.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Proliferation, DNA repair and apoptosis in androgenetic alopecia
Bald areas have lower cell growth, more DNA damage, and increased cell death.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research [Commentary] The Polyfollicular Anovulatory Androgenic Syndrome: A New Label for an Old Syndrome
Mohamed Kandil suggests renaming Polycystic Ovary Syndrome to "Polyfollicular Anovulatory Androgenic Syndrome" to better describe its symptoms, but concerns exist that it may not cover all related issues like obesity and depression.