research Skin Manifestations of Bardet-Biedl Syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
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research Elevated DHEAS and Acute Hair Loss in an Adult Male with Trichorhinophalangeal Syndrome Type 1: A Case of Male PCOS
A 21-year-old male with a rare genetic disorder experienced sudden hair loss and high DHEAS levels, likely due to a condition similar to PCOS, usually seen in women.
research Adult Onset Isolated Hypogonadotropic Hypogonadism: A Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
research Testosterone Secreting Ovarian Tumor: A Rare Cause of Erythrocytosis and Pulmonary Embolus
A rare ovarian tumor that produced testosterone caused a blood clot in the lungs and increased red blood cells in a woman.
research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research Endocrine Treatment of Transsexual Persons: An Endocrine Society Clinical Practice Guideline
The guideline recommends mental health involvement in diagnosing gender identity disorder and outlines hormone and surgical treatment protocols, emphasizing safety, informed consent, and long-term monitoring.
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 Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Severe Metabolic Disorders Coexisting With Werner Syndrome: A Case Report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research Androgen Therapy in Women: A Reappraisal: An Endocrine Society Clinical Practice Guideline
The guidelines advise against using testosterone and DHEA in women for most conditions due to safety and effectiveness concerns, but suggest considering testosterone for postmenopausal women with low sexual desire.
research A Rare Case of Acrodermatitis Enteropathica in a One-Year-Old Child
A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
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 Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research A 14-Year-Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Diabetes, Ovarian Tumor, Hyperparathyroidism, and Papillary Cancer: A Chance Association?
The woman's rare combination of diseases suggests an unknown factor may predispose individuals to multiple endocrine diseases.
research Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
The guideline suggests using specific criteria to diagnose PCOS, recommends various treatments for its symptoms, and advises screening for related health issues.
research Endocrine Evaluation of Hirsutism
Women with excessive male-pattern hair growth should get a full hormone check-up to find and treat any underlying issues, considering both medical and emotional aspects.
research Effects of 5-Alpha Reductase Inhibitors
5-alpha reductase inhibitors can cause sexual, neurologic, endocrine, and cardiovascular side effects, but these are rare and usually stop after ending treatment.
research Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Bipolar Disorders and Valproate: Pharmacokinetics, Pharmacodynamics, Therapeutic Effects, and Indications of Valproate: Review of Articles
Valproate is a mood stabilizer for bipolar disorder but has side effects and risks, especially during pregnancy.
research Safety and Efficacy of Transdermal Testosterone for Treatment of Hypoactive Sexual Desire Disorder
Transdermal testosterone can improve sexual desire in postmenopausal women but lacks long-term safety data and is not FDA-approved for this use.
research Papillon-Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
research 5α-Reductase Inhibitors: Progress and Therapeutic Potential
5α-reductase inhibitors help treat disorders caused by DHT and have potential for future therapies.
research Differential Diagnosis of Trichotillomania by Trichoscopy
Azathioprine may help with severe hair loss, a new topical treatment could counteract hair thinning, and trichoscopy can diagnose hair-pulling disorder effectively.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.