research Fundamental Concepts and Novel Aspects of Polycystic Ovarian Syndrome: Expert Consensus Resolutions
PCOS affects health and quality of life, with effective treatments available and a need for more research on alternative therapies.
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180-210 / 1000+ resultsresearch Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Hyperandrogenismus, adrenale Dysfunktion und Hirsutismus
Excessive male hormones in women cause symptoms like unwanted hair growth, and treatment requires careful medical evaluation.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Polycystic ovary syndrome: a common reproductive syndrome with long-term metabolic consequences
Polycystic ovary syndrome increases the risk of diabetes, heart disease, and endometrial cancer, and requires early treatment to manage these risks.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17 : Report of 58 additional patients from Qatar and literature review
Woodhouse-Sakati syndrome shows varied symptoms, including hair loss and diabetes, and is common in Qatar due to a specific genetic variant.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Prevalence and Metabolic Characterization of Polycystic Ovary Syndrome in a Cohort of Patients Diagnosed with Spina Bifida: Study Protocol
PCOS may be linked to spina bifida in young females.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research The Use of 2D: 4D Digit Ratio as a Predictor of Androgenetic Alopecia: A Review
Finger length ratios might help predict common hair loss.
research Landing Eyes on Unnoticed Disorder: A Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is a common but often undiagnosed disorder in women that can cause irregular periods, infertility, and other symptoms, and can be managed with lifestyle changes, medication, and sometimes surgery.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Postpartum depression: Prevention and multimodal therapy
Early screening and a mix of treatments help manage postpartum depression.
research The Association Between Polycystic Ovary Syndrome and Its Dermatological Manifestations
Women with PCOS are more likely to have skin problems like excessive hair, acne, and hair loss.
research Thallium - poisoner’s poison: An overview and review of current knowledge on the toxicological effects and mechanisms
Thallium is highly toxic, causing severe health issues, and Prussian blue is the best antidote.
research Immunological and Metabolic Causes of Infertility in Polycystic Ovary Syndrome
PCOS causes infertility mainly due to hormonal imbalances, insulin resistance, and chronic inflammation.
research Biochemical examination of fetal skin biopsy specimens obtained by fetoscopy: Use of the method for analysis of keratins and filaggrin
Fetal skin biopsy can help diagnose protein-related disorders before birth.
research Deciphering the Role of Androgen in the Dermatologic Manifestations of Polycystic Ovary Syndrome Patients: A State-of-the-Art Review
High androgen levels cause skin issues in PCOS, affecting quality of life.
research Relationship between Serum 25-Hydroxyvitamin D Levels and Hormonal Status in Infertile Women: A Retrospective Study
Low vitamin D levels may affect ovulation and progesterone in infertile women.
research A Comprehensive Review of Management of Patients with Infertility having Polycystic Ovarian Syndrome
PCOS-related infertility is managed with lifestyle changes and medications.
research Polycystic ovary syndrome: A review for dermatologists
Dermatologists play a key role in treating skin symptoms of PCOS like dark patches, excess hair, acne, and hair loss.
research Screening for gestational diabetes: usefulness of clinical risk factors
Older age, higher BMI, and family history of diabetes increase the risk of gestational diabetes in pregnant women.
research Subject Index
research Psoriasis y alopecia areata con traquioniquia concurrente en una paciente pediátrica con síndrome de Turner
A girl with Turner syndrome had psoriasis, alopecia areata, and trachyonychia.
research How real is senescent alopecia? A histopathologic approach
Aging alone rarely causes significant hair loss; hormones are a bigger factor.
research Hormonal Parameters in Androgenetic Hair Loss in the Male
Men with male pattern hair loss have different levels of certain hormones compared to men without hair loss.