research An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
Search
for
Sort by
Research
720-750 / 1000+ results research Physiopathology of polycystic ovary syndrome in endocrinology, metabolism and inflammation
PCOS involves hormonal imbalance, cysts, and ovulation issues, affecting health and increasing disease risks.
research Endocrine and metabolic characteristics in polycystic ovary syndrome.
PCOS affects multiple organs and requires combined treatment with lifestyle changes, metformin, and oral contraceptives.
research Implications of Non-compliance in the Management of Chronic Polycystic Ovarian Syndrome
Non-compliance with PCOS medication worsens symptoms and highlights the need for better patient support and education.
research Reconsidering the Polycystic Ovary Syndrome (PCOS)
PCOS should be reclassified into two types based on hormone levels and symptoms.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Oligomenorrhoea in Exercising Women
Irregular menstrual cycles in exercising women may be linked to energy deficiency or hormonal imbalances, requiring careful diagnosis for proper treatment.
research Hirsutism, Male Pattern Baldness, and Acne in a 60-Year-Old Woman
Ovarian hyperthecosis caused high testosterone and virilization symptoms in a 60-year-old woman, which improved after surgery.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
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 Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research 7745 Hirsutism in young girls, Beyond PCOS
Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
research Effect of ethnicity on the clinical presentations of women with polycystic ovary syndrome: a 20-year retrospective cohort study
Ethnicity affects how polycystic ovary syndrome shows up in women, with white women having higher metabolic risks but less diabetes, and South Asian women showing more androgenic symptoms and being younger at presentation.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
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 Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research A CASE REPORT ON POLYCYSTIC OVARY SYNDROME WITH METABOLIC COMPLICATIONS
Early recognition and comprehensive management of PCOS can prevent long-term health issues.
research Current Guidelines for Diagnosing PCOS
The guidelines suggest reconsidering PCOS criteria for better diagnosis and care.
research Case Report: Exceptional Association of Leydig Cell Ovarian Tumor and Primary Hyperparathyroidism in a Postmenopausal Patient
A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
research A MODERN VIEW OF THE POLYCYSTIC OVARIAN SYNDROME
The article concludes that better diagnosis and management of Polycystic Ovarian Syndrome are needed to improve women's health and prevent related diseases.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research A CASE REPORT ON POLYCYSTIC OVARY SYNDROME WITH METABOLIC COMPLICATIONS
Early recognition and comprehensive management of PCOS can prevent long-term health issues.
research Skin lesions in polycystic ovary syndrome
PCOS often causes skin problems due to hormonal and metabolic imbalances.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Metabolic dysfunction in obese Hispanic women with polycystic ovary syndrome
Obese Hispanic women with PCOS are at higher risk for metabolic problems than non-Hispanic white women.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.