research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
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research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research Medical Care for Children and Adolescents with Gender Dysphoria and Gender Inconsistency in Light of Current Recommendations: How to Implement the 'Primum Non Nocere' Principle?
The safety and effectiveness of gender-affirming treatments for children are uncertain, with potential long-term risks like infertility.
research Hypotrichosis and Hair Loss on the Occipital Scalp
A baby girl has a hair disorder called monilethrix, causing fragile hair that may improve over time.
research Pictorial Essay on Hair Loss Due to Head Bones Displacement
The essay suggests hair loss might be caused by changes in skull bones.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research Acrodermatitis Enteropathica – Diagnostic Challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
research Clinical Cases of Darier-White Follicular Dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research A Rare Cause of Irrevocable Childhood Alopecia Feigning Alopecia Universalis: Atrichia Congenita With Papular Lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome
Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
research Coexistence of Woolly Hair and Monilethrix: A Case Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
research Measurement of Serum Prolactin Level in Vitiligo Patients and Its Correlation with Prolactin Gene Polymorphism
Prolactin levels and gene polymorphism are not linked to vitiligo severity but are related to BMI.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research WNT10B (Wingless-Type MMTV Integration Site Family): Role in Biological Processes and Diseases
WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
research Phylloid Terminal Hair Nevus: A Unique Clinical Entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research Study of Skin Expression of MicroRNA-146a in Patients with Alopecia Areata
Higher levels of miR-203 may contribute to hair loss in alopecia areata.
research Eruptive Syringomas in Down’s Syndrome
People with Down's syndrome are more likely to have syringomas.
research Disorders of the Scalp and Hair
Different scalp and hair disorders are more common in certain ethnic groups, with the most common being androgenetic alopecia, which is treated with medications like minoxidil and finasteride.
research The First Visit: Consultation and Workup Before Sperm Banking
A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
research Alopecia Areata in a 45-Year-Old Female with Autoimmune Diseases
A 45-year-old woman with autoimmune diseases experienced patchy hair loss due to alopecia areata, which has no cure but can be treated, with varying success.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research A Homozygous Single T Deletion Found in the GGCX Gene with PXE-Like Phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Androgen Effects on the Skin
Androgens like testosterone affect skin health and can lead to conditions such as acne and hair loss, with various treatments available.
research Kennedy's Disease and Partial Androgen Insensitivity Syndrome: Report of 4 Cases and Literature Review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Why Are Men With Premature Alopecia at Higher Risk of Benign Prostatic Hyperplasia? And What About Prostate Cancer?
Men with early hair loss may have a higher risk of enlarged prostate and possibly prostate cancer due to shared hormonal factors.