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.
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30-60 / 1000+ results research A 9-Month-Old Infant with Severe Scalp Dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Novel Presentation of a Heterozygous INSR Mutation and Markedly Elevated Testosterone Levels in a Pediatric Patient: A Case Report
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
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 Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Azathioprine-Induced Agranulocytosis and Severe Alopecia After Kidney Transplantation Associated With a NUDT15 Polymorphism: A Case Report
A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
research Drug Eruptions in Dermatology
Skin reactions to drugs are common and can be deadly, usually requiring stopping the drug and may be better prevented with genetic testing in the future.
research The Case: Bilateral Kidney Tumors and Lung Cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Clinical Snippets: Discoveries in Dermatology and Related Fields
Topical Imiquimod may fight vascular tumors by affecting blood vessels or the immune system, low iron might be linked to some hair loss, removing the top skin layer helps vitamin C get in, genetic testing helps diagnose skin conditions, and too much iron could worsen skin inflammation.
research Management of the Female With Non-Classical Congenital Adrenal Hyperplasia: A Patient-Oriented Approach
The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research NIPAL4 Deletion Identified in an American Bully with Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Late Presentation of Myotonic Dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research An Unusual Presentation of X-Linked Adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research A Newborn With Hair Loss
The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Two Females With Hair Loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Nonclassic Congenital Adrenal Hyperplasia: Pathophysiology, Genetics, and Management
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Case Report: NUDT15 Polymorphism and Severe Azathioprine-Induced Myelosuppression in a Young Chinese Female with Systemic Lupus Erythematosus: A Case Analysis and Literature Review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.