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.
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research Polycystic Ovary Syndrome: Early Detection in Adolescents
Early detection and treatment of PCOS in teenagers is important to manage symptoms and prevent severe issues.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Current Evaluation of Amenorrhea
Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
research Current Evaluation of Amenorrhea
The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Case 5: A Very Tall 7-Year-Old Boy with Medulloblastoma
A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Skin Aging
After menopause, women lose a lot of skin collagen, but estrogen replacement might improve skin health.
research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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 Clinical Review of Ejaculatory Dysfunction
The review suggests new ways to classify ejaculation problems and recommends different treatments based on the type of issue.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Philadelphia Dermatological Society
Dermatological conditions are complex and treatments often have mixed results.
research The Treatment of Acne
Early treatment of acne is important to prevent scarring and improve appearance, using medications that can have side effects.
research Commonly Encountered Symptoms and Their Management in Patients With Cirrhosis
Cirrhosis affects quality of life with various symptoms, requiring a holistic, multidisciplinary approach for management.
research Transcriptome Profiling of Whisker Follicles in Methamphetamine Self-Administered Rats
Methamphetamine affects gene expression in rat whisker follicles, with key genes linked to addiction.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research The Effect of Menopause on the Skin and Other Connective Tissues
Menopause significantly reduces skin collagen, leading to thinner, less elastic skin, and hormone replacement may help but requires careful consideration.
research The Role of Androgens in Hormone Replacement Therapy
Androgen therapy can help with symptoms like low libido in women, but more research is needed to understand its long-term safety and effects on health.
research Treatment of Female Sexual Dysfunction in Postmenopausal Women: What Is the Evidence?
Hormonal changes and psychological issues can cause sexual dysfunction in postmenopausal women. Behavioral therapy is recommended first, with hormone replacement helping some symptoms but not libido. Testosterone can improve libido, but its effects on overall sexual function are unclear. Emotional and relationship issues should be addressed before using medication, and the benefits and risks of testosterone supplementation should be considered.
research Endocrinology and Auxology of Siblings with Non-Classical Congenital Adrenal Hyperplasia
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Polycystic Ovary Syndrome: A Common But Often Unrecognized Condition
Polycystic Ovary Syndrome is common but often undiagnosed, and early treatment is important to prevent health problems.
research Acne and Systemic Disease
Hormones, especially androgens, play a key role in acne, which can be a symptom of systemic diseases like PCOS and may require targeted treatment.
research Profound Bradycardia After Addition of Diltiazem to a Beta Blocker
Adding diltiazem to a beta blocker can cause dangerously slow heart rates.
research Clinical Evaluation of Women Presenting with Low Libido and Determination of Whether Androgen Therapy Might Be Appropriate
Androgen therapy might help some women with low libido, but it has risks and should be used carefully.
research Endocrinopathies and Other Disorders Inducing a Polycystic Ovary Syndrome Phenotype
Some conditions mimic PCOS symptoms and need careful diagnosis to treat potentially serious health issues.
research Historical Archives: Dermatological Topics and Figures
The document reviews key historical figures and discoveries in dermatology.
research Longitudinal Clinical Course in Patients With 5α-Reductase Type 2 Deficiency Treated With Testosterone and Dihydrotestosterone During Infancy and Puberty
Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.