research Primary Amenorrhoea
Early investigation and a team approach are crucial for managing primary amenorrhea effectively.
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research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Dermatologic manifestations of endocrine disorders
Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
research References
research PHILADELPHIA DERMATOLOGICAL SOCIETY
Dermatological conditions are complex and treatments often have mixed results.
research Pharmacological interventions for treating chronic prostatitis/chronic pelvic pain syndrome
Some drugs may reduce prostatitis symptoms short-term with few side effects.
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 The Role of Hormonal Imbalances in Amenorrhea
Hormonal imbalances are a key cause of missed menstrual periods in women.
research Long-COVID symptoms after multisystem inflammatory syndrome in children during different pandemic waves
Long-COVID symptoms in children after MIS-C are similar across different COVID-19 variants, with older age being a key factor.
research Dermatoses of pregnancy
Pregnancy can cause various skin changes and diseases, with PUPPP being the most common skin condition specific to pregnancy.
research Evaluation of short-term hair follicle storage conditions for maintenance of RNA integrity
Horse hair follicles can be stored at cool or room temperature for a week without losing RNA quality.
research Evaluation of short-term hair follicle storage conditions for maintenance of RNA integrity
Hair follicles can be kept in RNAlater® at cool or room temperature for a week without harming RNA quality.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Instructions for geriatric patients
The document provides detailed care instructions for elderly patients.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Normal Pubertal Development: Part II: Clinical Aspects of Puberty
Accurate assessment of puberty using Tanner staging is crucial for identifying normal and abnormal development.
research Diagnostic value of high‐frequency ultrasound (HFUS) in evaluation of subcutaneous lesions
High-frequency ultrasound improves diagnosis accuracy for most subcutaneous lesions.
research Vulvar Discomfort in a 10-year-old Girl
A 10-year-old girl had genital pain from a small, red, crusty mass on her labia.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Beta-trace protein in chronic inflammatory demyelinating polyradiculoneuropathy and Guillain-Barré syndrome – clinical utilization and a new insight into pathophysiological mechanisms
Beta-trace protein may help diagnose and predict treatment response in certain nerve disorders.
research Mendelian randomization studies of testosterone exposure: A systematic review
Testosterone's health effects are complex and not definitively understood.