research A Case of the Cons: How Contraception Confused Congenital Adrenal Hyperplasia for Conn
Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
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630-660 / 1000+ resultsresearch Hybrid Eccrine Gland and Hair Follicle Hamartoma
A rare skin growth in a baby was successfully removed without coming back.
research Clinical features and presentation of polycystic ovary syndrome
PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
research PCOS: update and diagnostic approach
The document concludes that more research is needed to fully understand the causes of PCOS.
research “Who and how to screen for endogenous hypercortisolism among young women presenting with clinical hyperandrogenism and/or menstrual abnormalities ”
Screen young women with menstrual issues, acne, or excess hair for high cortisol to avoid misdiagnosis.
research Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis
Systemic sclerosis skin shows varied gene patterns, suggesting potential for personalized treatment.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Ichthyosis with confetti: a rare diagnosis and treatment plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research 17-Hydroxyprogesterone Responses to Gonadotropin-Releasing Hormone Disclose Distinct Phenotypes of Functional Ovarian Hyperandrogenism and Polycystic Ovary Syndrome
The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
research Multidisciplinary screening and diagnosis of obesity related diseases: an Arabic Association for the Study of Diabetes and metabolism position statement (AASD)
BMI is a simple, cost-effective tool for screening obesity and related diseases.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
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 Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with dermatomyositis showed rare skin symptoms, was treated successfully, and her case suggests checking for cancer in similar patients.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Body Composition and Characterization of Skinfold Thicknesses from Polycystic Ovary Syndrome Phenotypes. A Preliminar Case-Control Study
Women with PCOS have higher body fat and skinfold thickness, especially in the H-O-POM phenotype.
research Polycystic ovary syndrome: Challenges in adolescence
Diagnosing and managing PCOS in teens is hard, but early diagnosis and lifestyle changes are key, and more research is needed for long-term health.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Characterization of Polycystic Ovary Syndrome Among Flo App Users Around the World
The Flo app showed that bloating, high cholesterol and glucose levels are common in women with Polycystic ovary syndrome (PCOS), and these symptoms increase with body mass index (BMI), suggesting a need to refine PCOS diagnosis criteria.
research Did You Ever See a Creeping Hair?
A young girl's foot lesion was actually a rare condition caused by a hair fragment under the skin, not a parasite.
research Hair disorders associated with autoimmune connective tissue diseases.
Autoimmune diseases like lupus, dermatomyositis, and scleroderma can cause hair loss and other hair problems, and treatments for these diseases might also affect hair.
research Miscellaneous Disorders
Trichorrhexis nodosa causes hair to break easily, often affecting young to middle-aged black women.
research Iatrogenic Cushing's Syndrome in a Patient With Salt-Wasting Congenital Adrenal Hyperplasia (SWCAH)
A patient with congenital adrenal hyperplasia improved after adjusting her medication to prevent Cushing's syndrome symptoms.
research Contemporaneous onset of systemic lupus erythematosus and severe eating disorder; neither the chicken nor the egg
Hormonal changes and social stress may link lupus and eating disorders in teens.
research 6 Current concepts of polycystic ovary syndrome
PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.