research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
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960-990 / 1000+ resultsresearch 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 Screening for Abnormal Glucose Metabolism in Adolescents with Polycystic Ovary Syndrome (PCOS)
Teens with PCOS have a higher risk of type 2 diabetes and need regular glucose checks.
research Uncombable hair syndrome: A case presentation
Uncombable hair syndrome causes dry, frizzy hair that can't be combed flat, seen in a young child.
research Do you know this syndrome? * Você conhece esta síndrome? *
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
research Gynecological and dermatological aspects of diagnostics of polycystic ovary syndrome from puberty to menopause
PCOS is common, affects fertility, and requires personalized treatment to manage symptoms and health risks.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Pediatric adrenocortical carcinoma complicated by uric acid nephrolithiasis: a unique case report
Thorough evaluations and conservative management can lead to positive outcomes in pediatric adrenocortical carcinoma.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Adamson′s Fringe, Horatio George Adamson, and Kligman′s experiments and observations on Tinea capitis
Tinea capitis affects only a specific hair area, not deeper parts.
research Androgenetic alopecia in children: report of 20 cases
AGA can occur in children with family history; early diagnosis and treatment important.
research A Rare Case of Adolescent Girl with Beard-PCOS with a Difference: “HAIR-AN Syndrome”
A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
research The polycystic ovary syndrome
Polycystic Ovary Syndrome (PCOS) is a complex disorder with both immediate and long-term health effects, including menstrual issues, infertility, and increased risk of diabetes and heart disease.
research Alopesia Androgenetik: Mengenali Manifestasi Klinis Hingga Tatalaksana
AAG causes hair loss in many people, with limited treatments like finasteride, minoxidil, light therapy, and hair transplants.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Localized Acquired Perforating Dermatosis on Scalp Presented With Acute and Diffuse Total Alopecia
Treatment improved scalp conditions and hair loss with no recurrence after 1 year.
research Comparison of hair manifestations in cardio‐facio‐cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth
The RAS pathway affects hair growth differently in CFCS and CS.
research An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome
Triple H syndrome exists and can vary in symptoms.
research A rational approach to the diagnosis of polycystic ovarian syndrome during adolescence
Diagnosing PCOS in teenagers should focus on signs of excess male hormones and not rely solely on ovarian ultrasound or irregular periods, and should be reassessed in adulthood.
research Polycystic Ovarian Syndrome in Adolescents
PCOS in teens causes hormonal imbalances, irregular periods, and can lead to infertility and other health issues.
research 5048 A Rare Cause of Hyperandrogenism in Postmenopausal Women: Ovarian Stromal Hyperplasia
Ovarian stromal hyperplasia can cause high testosterone in postmenopausal women and is treated by removing the ovaries.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Progressively intractable seizures, focal alopecia, and hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research SAT-213 Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research What may be the markers of the male equivalent of polycystic ovary syndrome?
Some men with early hair loss may have a condition similar to PCOS in women.