research Unusual Presentation of Rapunzel Syndrome in an 8-Year-Old Girl
Rapunzel syndrome can show vague symptoms and needs long-term psychiatric care to prevent recurrence.
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research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Polycystic ovary syndrome and impact on health
PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Zinc deficiency associated with hypothyroidism: An overlooked cause of severe alopecia
Zinc supplements may be needed to treat hair loss in hypothyroidism.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Toward a Diagnostic Score in Cushing's Syndrome
The document suggests creating a validated score to diagnose Cushing's Syndrome and considers plasma steroid profiling as a simpler diagnostic method.
research Non polycystic ovary syndrome–related endocrine disorders associated with hirsutism
Hirsutism can be caused by various conditions besides PCOS, and it's important to treat the underlying issue and manage symptoms with medication and cosmetic approaches.
research Ovarian SAHA syndrome is associated with a more insulin-resistant profile and represents an independent risk factor for glucose abnormalities in women with polycystic ovary syndrome: A prospective controlled study
Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Localized cutaneous necrosis associated with the antiphospholipid syndrome
A woman with lupus experienced skin death due to a blood clotting disorder after stopping a blood thinner, which healed with treatment.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research The Polycystic Ovary Syndrome - Challenges and Opportunities in Adolescent Medicine
Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
research ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research A Rare association of Mauriac syndrome and Van-Wyk Grumbach syndrome found in a young Saudi girl with poorly controlled type 1 Diabetes and Hypothyroidism: A Case Report and Brief literature review
A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.
research PATHOGENETIC FEATURES OF THE INFLUENCE OF A PAST CORONAVIRUS INFECTION IN WOMEN WITH POLYCYSTIC OVARIAN SYNDROME
Women with PCOS are more vulnerable to severe COVID-19 and related health issues.
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 Effect of Kuntai Capsule Combined with Nilestriol Tablets in the Treatment of Perimenopausal Syndrome and on Reproductive Hormones
Kuntai capsules combined with nilestriol tablets effectively reduce perimenopausal symptoms and improve hormone levels.
research Acne-Associated Syndromes
Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Insulin Resistance and Polycystic Ovary Syndrome
Insulin resistance is linked to PCOS and can lead to other health issues, but treatments like metformin can help manage symptoms.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.