research Polycystic Ovary Syndrome and Cardiovascular Disease
PCOS increases the risk of heart disease and type 2 diabetes in women.
Search
for
Sort by
Research
660-690 / 1000+ results 
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research KERION MICROSPORICUM WITH HEMATOGENOUS AND ECTOGENOUS MICROSPORIDS
A rare scalp infection in a child developed into a kerion with additional skin symptoms.
research Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization)
A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Identification and characterization of Birt–Hogg–Dubé associated renal carcinoma
Somatic BHD mutations are rare in Japanese renal tumors.
research A Case of Basal Cell Carcinoma Arising in Congenital Triangular Alopecia
A woman with a rare hair loss condition developed skin cancer in the bald area.
research A rare clinical image of hypertrichosis (Werewolf syndrome)
Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.
research 712 Using scanning electron microscopy to elucidate the role of hair shaft malformation in the pathogenesis of Central Centrifugal Cicatricial Alopecia
Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Co-secretion of testosterone and cortisol by a functional adrenocortical oncocytoma
A woman's rare adrenal tumor caused high testosterone and cortisol levels, which normalized after the tumor was removed.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research A Case of the Cons: How Contraception Confused Congenital Adrenal Hyperplasia for Conn
Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Latent polyglandular autoimmune syndrome type 2 case diagnosed during a shock manifestation
A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research Central centrifugal cicatricial alopecia
CCCA causes progressive hair loss in Black women, starting from a central scalp patch.
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 Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.