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research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Hepatic Adenoma in an Adolescent With Elevated Androgen Levels
A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
research Metabolic and reproductive characteristics of first-degree relatives of women with self-reported oligo-amenorrhoea and hirsutism
Relatives of women with PCOS symptoms are more likely to have similar health issues.
research Alopecia areata and relapsing polychondritis or mosaic autoimmunity? The first experience of co-trimoxazole treatment
Co-trimoxazole successfully treated a girl with multiple autoimmune symptoms.
research Characterization of metabolic changes in the phenotypes of women with polycystic ovary syndrome in a large Mediterranean population from Sicily
Women with PCOS in Sicily show different levels of metabolic problems depending on their PCOS type, with obesity and abnormal lipid profiles being common.
research Complicated Trichotillomania of a Trichobezoar about a Clinical Case
Trichotillomania can cause severe complications like hairballs in the stomach, needing surgery and psychiatric care.
research Update on Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) affects 6%-15% of women of reproductive age, causing symptoms like acne and hair loss, and increasing the risk of type 2 diabetes and heart disease; it's managed through diet, exercise, and medications like Metformin and hormonal contraceptives.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Polycystic Ovary Syndrome: A Complex Interplay of Hormones and Metabolism
PCOS involves hormonal and metabolic issues, increasing risks for diabetes and heart disease, and requires lifestyle changes and medication for management.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research A RARE CASE OF ISOLATED PULMONARY INVOLVEMENT IN LYMPHOID VARIANT HYPEREOSINOPHILIC SYNDROME
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
A new gene variant in a girl with Coffin-Lowry Syndrome may link the condition to early puberty.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail 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 Case 1: Clitoromegaly, Oligomenorrhea, and Hirsutism in a 17-year-old Transgender Male
Parental support and gender-affirming care are crucial for the mental health of transgender adolescents.
research Prolonged Drug-Induced Hypersensitivity Syndrome/DRESS With Alopecia Areata and Autoimmune Thyroiditis
A severe medication reaction required long treatment and led to hair loss and thyroid issues.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Prevalence of functional disorders of androgen excess in unselected premenopausal women: a study in blood donors
Many young women who donate blood have hormonal disorders like excess male hormones and PCOS.
research Morbihan disease and extrafacial lupus miliaris disseminatus faceie: a case report
A 30-year-old man with rare skin conditions improved with antibiotics and surgery, hinting at a link to rosacea.
research A Simple Screening Approach for Assessing Community Prevalence and Phenotype of Polycystic Ovary Syndrome in a Semiurban Population in Sri Lanka
A simple screening method found that 6.3% of women in a semiurban area in Sri Lanka have polycystic ovary syndrome, with most showing menstrual irregularities.
research Disorders of the skin appendages
The document concludes that proper recognition and treatment of skin appendage disorders are important for management.
research Association of biochemical hyperandrogenism with type 2 diabetes and obesity in Chinese women with polycystic ovary syndrome
High androgen levels in Chinese women with PCOS are linked to a higher risk of diabetes and obesity.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Body dysmorphic concerns, social adaptation, and motivation for psychotherapeutic support in dermatological outpatients
Some skin patients have body image issues linked to social difficulties but want psychological help.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Challenges in the Assessment and Diagnosis of Polycystic Ovary Syndrome
Diagnosing Polycystic Ovary Syndrome is hard due to varying symptoms, no set criteria, and the need for better tests and education.
research Unusual presentation with polymenorrhagia and markedly high 17-hydroxy progesterone levels in a lady with Non-Classic Congenital Adrenal Hyperplasia.
A woman with non-classic CAH had unusual heavy periods and high hormone levels, improved with treatment.
research ‘Hirsutism’: A Psychological Analysis
Women with excess body hair feel psychological distress influenced by societal beauty standards, but distress isn't directly linked to the amount of hair.