research Treatment-Resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
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research Coexistence of Psoriasis and Alopecia Areata with Trachyonychia in a Pediatric Patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Guadalupe Fur Seal Alopecia: A Metabolic Syndrome Associated to Climatic Anomalies?
Climate-related nutritional stress may cause hair loss in juvenile male Guadalupe fur seals.
research Parameters of Obesity in Polycystic Ovary Syndrome
Obesity is common in PCOS patients and early treatment is important for their heart and metabolic health.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Hair-Thread Tourniquet Syndrome in an Infant With Bony Erosion
A hair wrapped tightly around an infant's toe caused severe damage, requiring early removal and possibly surgery to prevent worse outcomes like amputation.
research Bone Mineral Density Is Unaltered in Women with Polycystic Ovary Syndrome
Women with PCOS have similar bone density to healthy women, but those who are obese have higher bone density at some body sites.
research Polymorphism of CAG and GGN Repeats of Androgen Receptor Gene in Women with Polycystic Ovary Syndrome
Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
research Effect of Metformin Using 2-Hour Postload Insulin for Measuring Insulin Resistance in Taiwanese Women with Polycystic Ovary Syndrome
Metformin improved insulin resistance and BMI in overweight Taiwanese women with PCOS, and a 2-hour insulin test may be a good screening tool.
research Complementary Therapy with Traditional Chinese Medicine for Polycystic Ovarian Syndrome
Traditional Chinese Medicine and acupuncture may improve Polycystic Ovarian Syndrome symptoms and reduce costs, but more research is needed.
research Cutaneous Manifestations of Obesity and the Metabolic Syndrome
Obesity is linked to various skin disorders, which can help with early diagnosis and prevention of long-term health issues.
research Cutaneous Xanthomas in Homozygous Familial Hypercholesterolemia: A 12-Year Follow-Up
Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
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 A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Graham Little-Piccardi-Lassueur Syndrome Associated with Androgen Insensitivity Syndrome (Testicular Feminization)
A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
research Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research 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 A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Kennedy's Disease and Partial Androgen Insensitivity Syndrome: Report of 4 Cases and Literature Review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research 20th Annual Symposium of the British Society of Pediatric Dermatology, 11-12 November 2005, Newcastle Upon Tyne, UK
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research Clinical, Microscopic, and Ultrastructural Findings in a Case of Short Anagen Syndrome
The study found that Short Anagen Syndrome results in short hair growth not due to hair fragility, and hair may grow longer after puberty.
research Polycystic Ovarian Syndrome: Correlation Between Acne and Polycystic Ovaries and Its Relation to Menstrual Irregularity
Acne severity in women with PCOS is significantly associated with their serum LH/FSH ratio.
research Paired Ear Creases of the Helix: A Possible Physical Sign
Ear creases might indicate heart disease risk, needing more research.
research The Role of Mutations on Gene AR in Androgenetic Alopecia Syndrome
Mutations in the AR gene cause hair thinning and loss.
research 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.