research Premature isolated adrenarche in a six-year-old girl
A six-year-old girl has early signs of puberty, needs no treatment, but requires regular check-ups for future health risks.
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390-420 / 1000+ resultsresearch Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report
Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Aromatase deficiency in a male patient - Case report and review of the literature.
A male with aromatase deficiency improved bone health with estradiol treatment.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research The Case Files
Early diagnosis, decontamination, and supportive care are crucial for managing acute radiation syndrome.
research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research Nonclassic Congenital Adrenal Hyperplasia
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Patchy presentation of central centrifugal cicatricial alopecia
CCCA can appear as patchy hair loss in younger men, not just the usual pattern.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Association between epidermal growth factor and epidermal growth factor receptor gene polymorphisms and susceptibility to alopecia areata in Korean population
Certain gene variations might increase the risk of a hair loss condition in Koreans.
research Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study
The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
research Early Onset of Central Centrifugal Cicatricial Alopecia (CCCA) in Pediatric Patients: An Underrecognized Diagnosis
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
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 Central centrifugal cicatricial alopecia: Past, present, and future
CCCA is a hair loss type affecting African women, possibly caused by grooming and chemicals, with various treatments and needing more research.
research Aggressive squamous cell carcinoma developing in a giant epidermal cyst of the abdomen
A woman died from cancer that spread from a long-standing cyst on her abdomen.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Clinical and epidemiological features of atopic type of alopecia areata
Atopic diseases worsen alopecia areata, leading to earlier onset and more severe forms.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research The role of functional variants in the aetiology of polycystic ovary syndrome
A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research BAF200 Is Required for Heart Morphogenesis and Coronary Artery Development
BAF200 is essential for proper heart and coronary artery formation.