research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
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research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full.
Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research A Practical Approach to the Diagnosis and Management of Hair Loss in Children and Adolescents
Early and personalized treatment for hair loss in young people is crucial to prevent permanent damage and should include psychological support.
research Differential Diagnosis of Hyperandrogenism in Women with Polycystic Ovary Syndrome
The conclusion is that accurately identifying the cause of high androgen levels in women with PCOS is crucial and requires specific tests.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Polycystic ovary syndrome and the differential diagnosis of hyperandrogenism
The document concludes that careful evaluation is needed to diagnose PCOS correctly due to similar symptoms in other conditions, and accurate testosterone level measurement is crucial.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research Helpful diagnostic markers of steroidogenesis for defining hyperandrogenemia in hirsute women
The study concluded that androstendione and DHEA are important for diagnosing high male hormone levels in women with excessive hair growth.
research The eye and the skin in endocrine metabolic diseases
Diabetes can lead to blindness and skin problems, and managing blood sugar and blood pressure is crucial to prevent these complications.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Testicular Steroidogenesis
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research The distribution of Preputial vessels in different severity of rat congenital hypospadias model: imaging study using micro-computerized tomography
The junction of the inner and outer prepuce with good blood flow is ideal for surgical flaps.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research American Academy of Veterinary Dermatology and American College of Veterinary Dermatology Annual Meeting, Norfolk, Virginia 4-8 April 2001
The meeting presented findings on effective treatments for various pet skin conditions and insights into the immune responses of dogs with atopic dermatitis.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research An unusual circulating steroid profile in a virilized postmenopausal woman
A 68-year-old woman developed male traits due to a tumor in her ovary, which was removed, returning her hormone levels to normal.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Approach to Investigation of Hyperandrogenism in a Postmenopausal Woman
Postmenopausal hyperandrogenism, a condition with symptoms like increased hair growth and acne, is usually caused by PCOS but can also be due to other factors. It's diagnosed by checking testosterone levels and treated either by removing the adrenal tumor or through antiandrogen therapy.
research A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue
A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
research Schmallenberg virus infection suspected in a calf born to an imported heifer
A calf in Scotland likely had Schmallenberg virus from its mother.
research Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles
HoxC genes are crucial for normal hair and nail development.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1 ‐deficient Jack Russell Terriers and response to topical ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research Voice changes in reproductive disorders, thyroid disorders and diabetes: a review
People with reproductive, thyroid disorders, and type 2 diabetes can experience voice changes, but more research is needed to understand this better.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.