research An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D
The child's body didn't respond well to vitamin D, causing hair loss and rickets.
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research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research SUN-115 Leydig Cell Tumor: A Rare Cause of Hyperandrogenism
Leydig cell tumors in the ovary can cause high testosterone and male traits in postmenopausal women but are treatable with surgery.
research Selective Pituitary Resistance to Thyroid Hormone: Clinical Hyperthyroidism with High TSH on Levothyroxine Administration in I-131 Ablated “Graves Disease”
The woman was misdiagnosed with Graves Disease, leading to incorrect treatment, while she actually had Pituitary Resistance to Thyroid Hormone.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research 1748 IS ANDROGENETIC ALOPECIA ASSOCIATED WITH BENIGN PROSTATIC HYPERPLASIA? ANALYSIS OF 907 PATIENTS
Hair loss is linked to higher prostate-specific antigen levels and urinary symptoms, likely due to age.
research Investigation Bisphenol A and Phthalate Levels in Idiopathic Hyperandrogenemia
Higher BPA levels may be linked to idiopathic hyperandrogenemia in women.
research Anabolic-Androgenic Steroids and Cardiometabolic Derangements
Long-term anabolic steroid use can lead to heart and metabolic health issues.
research Clinical Findings, Response to Steroid Treatment, and Recurrence Rate in Alopecia Areata Patients with or without a Nonsynonymous Variant of Coiled-Coil Alpha-Helical Rod Protein 1
Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
research Establishment of type II 5α-reductase over-expressing cell line as an inhibitor screening model
A reliable model for screening type II 5α-reductase inhibitors was created and validated.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research Atypical Cushing's Syndrome in Dogs: Arguments For and Against
The cause of atypical Cushing's syndrome in dogs, possibly linked to sex hormones, is not yet proven.
research Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
Precocious puberty can signal familial adenomatous polyposis.
research A patient with Cronkhite-Canada syndrome whose entire digestive tracts was examined endoscopically
Prednisolone improved symptoms in a woman with Cronkhite-Canada syndrome, but regular screenings are needed due to cancer risk.
research Update on Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) affects 6%-15% of women of reproductive age, causing symptoms like acne and hair loss, and increasing the risk of type 2 diabetes and heart disease; it's managed through diet, exercise, and medications like Metformin and hormonal contraceptives.
research Urinary steroids in men with male-pattern alopecia
Men with male-pattern baldness have higher levels of certain testosterone metabolites and may have more active androgen metabolism.
research Testosterone, 17 Ks, 17 beta E2 FSH-LH variations and hirsutism modifications during spironolactone therapy.
Spironolactone treatment reduced hair growth and androgen levels in hirsute women, but the overall effectiveness was just adequate.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Unravelling the link between insulin resistance and androgen excess
AKR1C3 could be a treatment target for metabolic issues in PCOS.
research A RARE CASE OF ISOLATED PULMONARY INVOLVEMENT IN LYMPHOID VARIANT HYPEREOSINOPHILIC SYNDROME
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Spironolactone Therapy for Hirsutism in a Hyperandrogenic Woman
Spironolactone may help reduce excessive hair growth in women with high male hormone levels.
research Incomplete Sjögren-Larsson Syndrome in Two Japanese Siblings?
research Activation of mitochondrial aldehyde dehydrogenase 2 promotes hair growth in human hair follicles
Activating ALDH2 can boost hair growth.
research Simultaneous Alopecia Areata in Identical Twins: First Case Reported in Saudi Arabia
Environmental factors can trigger alopecia areata in identical twins.