research Approach to the Patient: Diagnostic Challenges in the Work Up for Polycystic Ovary Syndrome
Diagnosing PCOS is challenging due to its complex and varied symptoms.
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510-540 / 1000+ results research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
research Hepatic Adenoma in an Adolescent With Elevated Androgen Levels
A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
research Visual Vignette
The woman's symptoms and tests suggest her adrenal glands are producing too many male hormones.
research Faculty Opinions recommendation of Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
research Hirsutism
Hirsutism, excessive hair growth in women, often caused by high androgen levels and polycystic ovary syndrome, can be treated with medication and weight management.
research THE GENETICS OF CYP GENE VARIANTS IN ASSOCIATION WITH POLYCYSTIC OVARY SYNDROME: A NARRATIVE REVIEW
Genetic variants in CYP genes may worsen PCOS symptoms.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Body image, personality profiles and alexithymia in patients with polycystic ovary syndrome (PCOS)
Women with PCOS have more emotional and body image issues than healthy women.
research Clinical and Hormonal Evaluation of Androgen Excess
Most cases of high male hormone levels in women are due to polycystic ovary syndrome.
research Diagnosis of polycystic ovaries syndrome: establishment of reference values of nine hormones on Maglumi X- 8
Reference values for nine hormones were established to help diagnose PCOS.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Hormonal Therapies for Individuals with Intersex Conditions
research Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels
A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
research Sex-Chromosome-Related Dimorphism in Steroidogenic Enzymes and Androgen Receptor in Response to Testosterone Treatment: An In Vitro Study on Human Primary Skeletal Muscle Cells
Chromosomal differences affect how muscle cells respond to testosterone.
research Polycystic Ovarian Syndrome in Adolescents
PCOS in teens causes hormonal imbalances, irregular periods, and can lead to infertility and other health issues.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Efficacy of metformin therapy in adolescent girls with androgen excess: relation to sex hormone–binding globulin and androgen receptor polymorphisms
Metformin works better for adolescent girls with PCOS who have certain genetic variations.
research Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up
Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
research Hirsutism in the United Arab Emirates: a hospital study
Most women with hirsutism in the UAE have polycystic ovary syndrome (PCOS).
research The diagnosis of polycystic ovary syndrome in adolescents
Diagnosing PCOS in teenagers is challenging and should use strict criteria to avoid misdiagnosis and unnecessary worry.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research Pediatric androgenetic alopecia: a retrospective review of clinical characteristics, hormonal assays and metabolic syndrome risk factors in 23 patients
Androgenetic alopecia in teens is linked to obesity and other metabolic risks, needing early diagnosis and management.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Pattern of body fat distribution in patients of PCOS using DEXA-based indices
PCOS patients have more central body fat, which can be effectively measured using DEXA.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
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.