research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
Search
for
Sort by
Research
420-450 / 1000+ results
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research 169 Red Sky in Morning: A Case of Concurrent Hematospermia and Anorgasmia
Treating hematospermia can improve sexual function and reduce anxiety.
research Can we identify a post‐Serenoa syndrome (PSS)? A case series on sexual and psychiatric side effects of Serenoa repens
Serenoa repens may cause long-lasting sexual and psychiatric side effects.
research A study of androgenic signs and disorders in Greek female patients with acne
Almost 40% of Greek women with acne show signs of androgen-related disorders, with adult women more likely affected.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Endocrine Management of Adult Gender-Dysphoric/Gender-Incongruent Persons: A Clinical Practice Guideline from Endocrine Society of India
The guideline emphasizes a multidisciplinary approach and informed consent for gender-affirming hormone treatment, with regular follow-ups and individualized care.
research Rheumatoid arthritis and gouty arthritis in an adult patient with Down's syndrome
A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
research Renal Carcinoma Presenting with Adrenocortical Insufficiency Due to a Pituitary Metastasis
A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.
research Polycystic Ovary Syndrome (PCOS) Presenting with Delayed Menarche and Clitoromegaly
PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
research Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research Klinefelter syndrome and chronic leg ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
research Relation between Acne Vulgaris and Metabolic Syndrome in Males
Males with acne are more likely to have Metabolic Syndrome.
research GLOMERULAR MEMBRANOUS NEPHROPATHY AND WERNER SYNDROME: A CASE REPORT
A potential genetic link between Werner syndrome and kidney disease was suggested.
research HIDRADENITIS SUPPURATIVA IN THE PEDIATRIC POPULATION: A 4-YEAR COHORT IN A TERTIARY HOSPITAL
Early recognition and treatment of hidradenitis suppurativa in children are crucial to prevent complications.
research Androgenetic Alopecia
research 1407 ANDROGENETIC ALOPECIA, PROSTATE VOLUME AND URINARY SYMPTOMS. IS THERE A RELATIONSHIP? A CASE-CONTROL STUDY
Hair loss, prostate size, and urinary issues are related due to androgen effects.
research Acne severity and the Global Acne Grading System in polycystic ovary syndrome
Acne severity in women with PCOS is linked to younger age, lower body weight, and more body hair, but not to hormone levels.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research HAIR-AN Syndrome: A Systematic Review of Clinical, Metabolic, and Hormonal Features in Women of Reproductive Age
HAIR-AN syndrome mainly affects obese women and can be improved with early diagnosis and treatment using insulin-sensitizing agents.
research Diagnostic criteria for enduring sexual dysfunction after treatment with antidepressants, finasteride and isotretinoin
The document sets criteria for diagnosing long-term sexual dysfunctions caused by certain medications.
research A RARE ENCOUNTER
Surgical removal of an adrenal tumor resolved hormonal issues in a young woman.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research MON-336 Ovaries Reveal Their Inner Testes
A woman's severe male-like symptoms were caused by a rare, benign tumor in her ovary that produced male hormones.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Extensive scleredema adultorum with loss of eccrine glands
A rare case of scleredema in a diabetic woman showed loss of sweat glands, causing heat strokes, with treatment only slightly improving symptoms.
research Commentary 2
Genetic factors play a major role in acne.
research (135) Post-Finasteride Syndrome: A Case Presentation and Discussion
research MON-024 Steroid Cell Tumor, Not Otherwise Specified; A Rare Case of Hyperandrogenism
A rare ovarian tumor caused high male hormone levels, but surgery fixed it.