research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
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research Evidence of the Moderating Role of Hair Cortisol and Hair Cortisone in the Relationship Between Work Stress and Depression Symptoms Among Chinese Fishermen
Hair cortisol and cortisone levels may affect how work stress influences depression in Chinese fishermen.
research Inconsolable Crying in Infants: Differential Diagnosis in the Pediatric Emergency Department
Most inconsolable crying in infants is not due to a serious cause, and a detailed check-up is typically enough to find the reason.
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: Diagnosis and Management of Congenital Idiopathic Hypogonadotropic Hypogonadism
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 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 Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
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 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 Dermatologic Manifestations of Endocrine Disorders
Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research References
research Philadelphia Dermatological Society
Dermatological conditions are complex and treatments often have mixed results.
research Diseases Of The Canine Prostate Gland
The main prostate diseases in dogs are benign growth, infections, and cancer, with various treatments ranging from drugs to surgery, but cancer treatments have limited success.
research Pharmacological Interventions for Treating Chronic Prostatitis/Chronic Pelvic Pain Syndrome
Some drugs may reduce prostatitis symptoms short-term with few side effects.
research Association Between Testicular Microlithiasis and Primary Malignancy of the Testis: Our Experience and Review of the Literature
Testicular microlithiasis may increase the risk of testicular cancer and patients with it should be closely monitored.
research 37-Year-Old Man With Fatigue and Erectile Dysfunction
The man's fatigue and erectile dysfunction were improved by treating his obesity-related low testosterone without needing testosterone replacement.
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 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 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 5-Alpha-Reductase Deficiency in a Saudi Girl
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
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
Hair follicles can be kept in RNAlater® at cool or room temperature for a week without harming RNA quality.