research Parathyroid adenoma with coeliac disease: primary or quaternary hyperparathyroidism?
A gluten-free diet and surgery fixed the girl's calcium levels and started puberty.
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960-990 / 1000+ resultsresearch Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer
Certain genetic markers can indicate a person's risk of developing prostate cancer.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Polycystic Ovary Syndrome
PCOS is a genetic disorder affecting women's reproductive health, with treatments focused on symptoms like insulin resistance and fertility.
research The pathophysiology of polycystic ovary syndrome
Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
research Pilomatricoma of the calf: a case report and review of literature
Surgeons should know about pilomatricoma for accurate diagnosis, even though it's rare.
research Metabolic syndrome and metabolic risk profile according to polycystic ovary syndrome phenotype
Women with severe types of PCOS are more likely to have metabolic syndrome, and belly fat is a key predictor of this risk.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Polycystic ovary syndrome and iron overload: biochemical link and underlying mechanisms with potential novel therapeutic avenues
Polycystic ovary syndrome and iron overload share similar symptoms and can be potentially treated with blood removal, diet changes, and probiotics.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype
Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Chronic Overlapping Pain Conditions and Nociplastic Pain
Nociplastic type pain, common in Chronic Overlapping Pain Conditions, is a complex, heritable trait linked to 24 unique genetic factors and 127 genes, with potential shared mechanisms in cognitive, personality, and metabolic traits.
research Haben Schwangerschaft und Elternschaft Einfluss auf den Verlauf des PCO-Syndroms? Basis-Daten der prospektiven LIPCOS-Studie (Lebensstil-Intervention beim Polyzystischen Ovar Syndrom (PCOS))
Pregnancy and parenthood may help regulate PCOS symptoms.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research Contemplation on Polycystic Ovarian Syndrome
PCOS is a common hormonal disorder in women, causing symptoms like acne and irregular periods, and is managed with medication and lifestyle changes.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Polycystic Ovary Syndrome and Cardiovascular Disease
PCOS increases the risk of heart disease and type 2 diabetes in women.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Primary idiopathic pseudopelade of brocq: Five case reports
Primary idiopathic pseudopelade of Brocq causes gradual, scarring hair loss with no effective treatment.
research Recognizing polycystic ovary syndrome in the primary care setting
Doctors should recognize and treat PCOS early in primary care to manage symptoms and lower risk of other health issues.
research Oral contraceptive pill (OCP) treatment alters the gene expression of intercellular adhesion molecule-1 (ICAM-1), tumor necrosis factor-α (TNF-α), monocyte chemoattractant protein-1 (MCP-1) and plasminogen activator inhibitor-1 (PAI-1) in polycystic ovary syndrome (PCOS) women compared to drug-naive PCOS women
Birth control pills change the activity of certain inflammation and blood clotting genes in women with PCOS.
research Redefining Polycystic Ovary Syndrome (PCOS) as Polyendocrine Metabolic Ovarian Syndrome (PMOS): Implications for Diagnosis, Pathophysiology and Clinical Management
PCOS should be redefined as PMOS to better address its complex metabolic issues and improve treatment.
research Presence of polycystic ovary syndrome is associated with longer anogenital distance in adult Mediterranean women
Women with polycystic ovary syndrome tend to have a longer distance between the clitoris and anus.
research Premature adrenarche, polycystic ovary syndrome and intrauterine growth retardation: does a relationship exist?
Low birthweight and rapid weight gain after birth may increase the risk of developing polycystic ovary syndrome.
research Overexpression of IL-18 in the Proliferative Phase Endometrium of Patients With Polycystic Ovary Syndrome
Women with PCOS, especially those overweight, have higher levels of IL-18 in their endometrium, which may affect fertility.
research Prevalence of polycystic ovary syndrome and its associated complications in Iranian women: A meta-analysis.
Polycystic Ovary Syndrome (PCOS) is not very common among Iranian women, but it's important to prevent it because of the risk of heart disease and infertility.