research SUN-069 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.
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840-870 / 1000+ results research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Treatment of hirsutism with the pure antiandrogen flutamide
Flutamide effectively reduced excessive hair growth and improved related symptoms in hirsutism patients without significant side effects.
research Clinical relevance of testosterone and dihydrotestosterone metabolism in women
Testosterone and dihydrotestosterone play a role in women's health issues like excess hair and baldness, and treatments blocking these hormones may help.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research Approach to androgen excess in women: Clinical and biochemical insights
The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
research Hidradenitis Suppurativa and Comorbid Disorder Biomarkers, Druggable Genes, New Drugs and Drug Repurposing—A Molecular Meta-Analysis
The study found key factors in the cause of hidradenitis suppurativa, its link to other diseases, and identified existing drugs that could potentially treat it.
research 5α-Reductase Type 1 Deficiency or Inhibition Predisposes to Insulin Resistance, Hepatic Steatosis, and Liver Fibrosis in Rodents
Lack of 5α-Reductase type 1 can lead to insulin resistance and liver problems.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Mechanism of Vitamin D Receptor Action
Vitamin D receptor is essential for healthy bones and skin.
research Dehydroepiandrosterone Sulfate Level is Lower in Polycystic Ovary Syndrome Patients with Autoimmune Thyroid Disease
PCOS patients with autoimmune thyroid disease have lower DHEAS levels.
research Ovarian hyperthecosis coexisting with an incidental adrenal lesion: challenges in the diagnostic approach
Using GnRHa agonists helps diagnose and treat ovarian hyperthecosis when surgery isn't possible.
research SUN-439 Hypothalamic-Pituitary-Adrenal Axis Disruption from Unregulated Glucocorticoid Use: A Case Series
Unregulated glucocorticoid use can disrupt hormone balance and cause serious health issues.
research Edematous striae distensae
The girl's swelling and skin issues improved with fluid restriction and diuretics.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Treatme nt of vitamin-D and calcium to children with hair defluvium
Vitamin-D and calcium effectively treat hair loss in children.
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 Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease
Managing multiple autoimmune diseases in one patient is extremely challenging.
research Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
research Practical approaches to the use of markers of biochemical hyperandrogenism in women
Accurate diagnosis and treatment of hyperandrogenism in women require comprehensive evaluation of symptoms and hormone levels.
research Absence of vitamin D receptor (VDR)‐mediated PPARγ suppression causes alopecia in VDR‐null mice
Lack of vitamin D receptor causes hair loss in mice by allowing certain genes to overactivate.
research Unilateral nevoid hyperkeratosis of the nipple and areola in a Saudi female
Calcipotriol cream reduced skin thickening and itching in a rare nipple condition.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research Abstract 94: Hyaluronan Synthase 2 Knock Down in Epidermis Alter Wound Healing and Hair Follicle Development
Hyaluronan from Has2 is important for proper wound healing and hair follicle development.
research Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia)
A new system helps better diagnose and treat female androgenization conditions like PCOS.