research Triglycerides, independent of Ferriman Gallwey Score, is a main determinant of free testosterone index in PCOS
High triglyceride levels are a key factor affecting testosterone levels in women with PCOS.
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300-330 / 1000+ results research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
A hereditary condition causes hair loss and twisted hair in some family members.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research 211 TRIGLYCERIDEMIA IN CONDITION OF FOOD STRESS IN WOMEN WITH POLYCYSTIC OVARY SYNDROME AND ANDROGENIC ALOPECIA
Women with PCOS and androgenic alopecia have different triglyceride metabolism compared to those without hair loss.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Masquerading of trichotillomania in a family with monilethrix
It's important to consider genetic hair disorders when diagnosing hair loss.
research Prevalence of metabolic syndrome in the family members of women with polycystic ovary syndrome from North India
Family members of North Indian women with PCOS have a high rate of metabolic syndrome.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Association between androgenetic alopecia and hyperlipidemia: a comparative study
People with androgenetic alopecia may have higher cholesterol and triglycerides, suggesting a higher risk of heart disease.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research FOXN 1 Duplication and Congenital Hypertrichosis
FOXN1 duplication can cause excessive hair growth.
research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research Hydroa Vacciniforme with Mucosal Involvement and Recalcitrant Periodontitis and Multiple Virus Re-activators after Sun-exposure
Women with early onset androgenetic alopecia have worse lipid profiles.
research Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults
The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
research 130 Dermal IgA deposition targeted against Transglutaminase 3 in Dermatitis herpetiformis risk groups
Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Hipertricose generalizada exuberante em um lactente: relato de caso
An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
research Hyperandrogenism in a set of triplets with modification of clinical course by hyperthyroidism
Hyperthyroidism can hide signs of high androgen levels in females.