research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
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research ACOG Practice Bulletin No. 108: Polycystic Ovary Syndrome
The bulletin provides guidelines for diagnosing and managing PCOS, suggesting weight loss, hormonal contraceptives, and diabetes screening, with clomiphene for infertility and various treatments for excess hair.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Congenital Adrenal Hyperplasia: A Detailed Review of 21-Hydroxylase Deficiency
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Genome-Wide Association Study in Japanese Females Identifies Fifteen Novel Skin-Related Trait Associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome: A Pilot Study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Testosterone Replacement in 49,XXXXY Syndrome: Andrological, Metabolic, and Neurological Aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Toward a Diagnostic Score in Cushing's Syndrome
The document suggests creating a validated score to diagnose Cushing's Syndrome and considers plasma steroid profiling as a simpler diagnostic method.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation in a Golden Retriever–Poodle Cross-Bred Dog and the Effect of Topical Therapy
Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
research Folliculitis Decalvans With Frontal Fibrosing Alopecia in a Dark Phototype: Presentation of Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum
Folliculitis Decalvans and Frontal Fibrosing Alopecia can coexist in people with darker skin, showing features of both conditions.
research Machine Learning Approach for Predicting Systemic Lupus Erythematosus in Oman-Based Cohort
The machine learning model accurately predicts Systemic Lupus Erythematosus in Omani patients.
research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Androgen- and Estrogen-Secreting Adrenal Cancers
Rare adrenal cancers that secrete androgens or estrogens have a poor prognosis and are treated primarily with surgery.
research Polycystic Ovary Syndrome and Oxidative Stress: From Bench to Bedside
Oxidative stress worsens PCOS by damaging cells and disrupting metabolism, suggesting antioxidant treatments might help.
research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research The Prolactin Receptor as a Therapeutic Target in Human Diseases: Exploring New Potential Indications
Blocking the prolactin receptor might help treat various diseases, but more research is needed.
research Role of Oxidative Stress in Polycystic Ovary Syndrome
Oxidative stress is a key factor in the development of Polycystic Ovary Syndrome, and weight management can improve symptoms.
research Significance of Iron Status in Hair Loss in Women
Iron deficiency might contribute to hair loss in women.
research Polycystic Ovarian Syndrome: A Comprehensive Review of Symptoms, Diagnosis, and Management
PCOS is a complex disorder managed by treating symptoms and requires a team of specialists.
research The Therapeutic Potential of CRTH2/DP2 Beyond Allergy and Asthma
CRTH2 antagonists might be useful for treating many conditions because they play a role in immune and inflammation responses.
research Presence of Polycystic Ovary Syndrome Is Associated with Longer Anogenital Distance in Adult Mediterranean Women
Women with polycystic ovary syndrome tend to have a longer distance between the clitoris and anus.
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 Pediatric Bipolar Disorder: Evidence-Based Psychopharmacological Treatments
Combining mood stabilizers with antipsychotics is more effective for treating children with bipolar disorder than using mood stabilizers alone.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Ovarian Morphology Is Associated With Insulin Resistance In Women With Polycystic Ovary Syndrome: A Cross-Sectional Study
Larger ovarian size is linked to higher insulin resistance in women with PCOS.