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.
Search
for
Sort by
Research
510-540 / 1000+ results
research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
research Polycystic ovary syndrome and the differential diagnosis of hyperandrogenism
The document concludes that careful evaluation is needed to diagnose PCOS correctly due to similar symptoms in other conditions, and accurate testosterone level measurement is crucial.
research 215. Plasma testosterone and dihydrotestosterone in cryptorchid boys treated with HCG
research Post Menopausal Hyperandrogenism: A Case of a Steroid Cell Tumor of the Ovary
A woman's severe hormone imbalance after menopause led to finding a rare ovarian tumor, treated by surgery.
research Does a male polycystic ovarian syndrome equivalent exist?
Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
research 42003 Hormonal profile of androgenetic alopecia in adolescents and its association with metabolic dysfunction: single center retrospective study
Adolescents with hair loss show different hormone levels by sex and often have related metabolic issues.
research Polycystic Ovary Syndrome in Childhood: Diagnostic and Therapeutic Challenges
Diagnosing and treating PCOS in young people is difficult.
research SUN-069 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 Treatment of Nonclassic 11-Hydroxylase Deficiency with Ashwagandha Root
Ashwagandha root improved symptoms of nonclassic 11-hydroxylase deficiency in an elderly woman.
research Nail Matrix Pathology in Cronkhite–Canada Syndrome: The First Case Report
Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
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 SAT384 Is This A Case of Androgen-Secreting Endometrial Cancer in A Postmenopausal Woman?
The document concludes that doctors should thoroughly check postmenopausal women with sudden increased male traits for rare conditions like androgen-producing endometrial cancer.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research Central Centrifugal Cicatricial Alopecia (CCCA)
CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
research Diagnostic Challenges in Ovarian Hyperthecosis: Clinical Presentation with Subdiagnostic Testosterone Levels
Ovarian hyperthecosis can cause symptoms even with normal testosterone levels, and surgery can improve these symptoms.
research The Hair-An Syndrome: A Report of a Misdiagnosed Case with Unfortunate Outcome
A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research SUN-105 A Classic Case of Ovarian Hyperthecosis
Ovarian hyperthecosis can cause high testosterone and symptoms like hair loss, and surgery can help improve these symptoms.
research Challenges in diagnosing ovarian sertoli-leydig cell tumors: A Peruvian case series
Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Hyperandrogenism-insulin resistance-acanthosis nigricans syndrome with PCOS and Hashimoto's thyroiditis: case report
A patient with HAIR-AN syndrome, PCOS, and Hashimoto's thyroiditis improved with early diagnosis and treatment to prevent serious health problems.
research Generalised Glucocorticoid Resistance
Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
research A 36-Year-Old Woman With an Unexpected Cause of Hypokalemia
A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research Lack of concordance and linkage disequilibrium among brothers for androgenetic alopecia and CAG/GGC haplotypes of the androgen receptor gene in Mexican families
No clear link between specific gene and hair loss in Mexican brothers.