research Association of polycystic ovary syndrome and Graves′ disease: Is autoimmunity the link between the two diseases
The document suggests that there might be an autoimmune link between polycystic ovary syndrome and Graves' disease.
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research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Loose Anagen Syndrome: A Retrospective Chart Review of 37 Cases
Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Gloriosa superba poisoning mimicking an acute infection- a case report
Gloriosa superba poisoning can mimic severe tropical infections and cause rapid hair loss.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research MON-024 Steroid Cell Tumor, Not Otherwise Specified; A Rare Case of Hyperandrogenism
A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
research Gene expression of FOXA1 and CCL2 in different phenotypes of infertile women with polycystic ovarian syndrome
FOXA1 and CCL2 genes are more active in women with PCOS, varying by phenotype.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research Characteristics of phenotypes (clinical variants) of polycystic ovary syndrome in women of reproductive age
Most women with polycystic ovary syndrome (PCOS) have menstrual issues, infertility, acne, and excessive body hair, with the most common type being the non-androgenic phenotype.
research Short anagen syndrome in a girl with curly dark hair and consanguineous parents
A 3-year-old girl has short anagen syndrome, causing her hair to stay short.
research SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research Multiple congenital smooth muscle hamartoma: A case report
Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.
research The Frequency of Various Phenotypes of Polycystic Ovarian Syndrome in Adolescents, Based on Rotterdam Criteria
The most common PCOS type in adolescents is hyperandrogenic with polycystic ovaries.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research 20th Annual Symposium of the British Society of Paediatric Dermatology, 11-12 November 2005, Newcastle upon Tyne, U.K.
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
Precocious puberty can signal familial adenomatous polyposis.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research Sheehan Syndrome Leading to Acute Systolic and Diastolic Heart Failure: A Case Report
Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
research Viral-Associated Trichodysplasia of Immunosuppression
A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.
research Prevalence of Body Dysmorphia in Polycystic Ovary Syndrome ( PCOS) Patients
Body dysmorphia is common in women with PCOS, affecting their quality of life.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.