research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
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research LBMON231 Virilization Secondary To Androgen Producing Ovarian Serous Cystadenoma
A woman's masculine features were caused by a rare ovarian tumor that produced male hormones.
research Polycystic Ovary Syndrome and Its Differential Diagnosis
The document concludes that correct diagnosis and management of PCOS are important, and more research is needed on its risks and treatments.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
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 Loose Anagen Hair Syndrome in an Indian Child with Trichoscopic Features
Loose anagen hair syndrome in children often resolves on its own.
research Metabolomic biomarkers in women with polycystic ovary syndrome: a pilot study
Certain metabolites are lower in women with PCOS and could be potential markers for the condition.
research Cavitating Osmotic Demyelination Syndrome Following Correction of Chronic Hyponatremia in Sheehan’s Syndrome: A Novel Case Report
Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
research Polycystic Ovary Syndrome: Features, Diagnostic Criteria and Treatments
PCOS is a long-term condition that needs more research for better understanding and treatment.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
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 Polycystic Ovary Syndrome: Clinical Presentation, Diagnostic Challenges, and Evolving Management Approaches
Early detection and comprehensive care improve long-term health in PCOS.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research POLYCYSTIC OVARY SYNDROME: DIVERSE CLINICAL PRESENTATIONS ACROSS ADOLESCENCE, REPRODUCTIVE AGE, AND MENOPAUSE
PCOS symptoms vary by age, affecting diagnosis and treatment.
research Association of severity of menstrual dysfunction with cardiometabolic risk markers among women with polycystic ovary syndrome
Severe menstrual issues in PCOS women signal higher risk for heart and metabolic problems.
research Unusual Cause of Chronic Diarrhea: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Clinical features and presentation of polycystic ovary syndrome
PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
research An unusual circulating steroid profile in a virilized postmenopausal woman
A 68-year-old woman developed male traits due to a tumor in her ovary, which was removed, returning her hormone levels to normal.
research Untargeted metabolomic approach to study the serum metabolites in women with polycystic ovary syndrome
Certain metabolites may help diagnose and predict polycystic ovary syndrome.
research Menstrual Cycle Alterations during Adolescence: Early Expression of Metabolic Syndrome and Polycystic Ovary Syndrome
Irregular menstrual cycles in teenagers are linked to a higher risk of polycystic ovary syndrome and metabolic syndrome.
research Ovarian Hemangioma With Stromal Luteinization
The removed ovarian tumor was a rare type of blood vessel tumor that improved the patient's symptoms and hormone levels after surgery.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.