research Case 18-2018: A 45-Year-Old Woman with Hypertension, Fatigue, and Altered Mental Status
A woman with Cushing's syndrome improved after surgery to remove a tumor causing the condition.
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570-600 / 1000+ results research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Helpful diagnostic markers of steroidogenesis for defining hyperandrogenemia in hirsute women
The study concluded that androstendione and DHEA are important for diagnosing high male hormone levels in women with excessive hair growth.
research Atrichia congenita with papular lesions: A rare cause of pediatric alopecia
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Severe Hyperandrogenemia and Insulin Resistance in a 12-Year-Old Girl
A 12-year-old girl with very high testosterone and insulin resistance improved with birth control pills, suggesting PCOS can cause high testosterone without tumors.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Congenital insensitivity to pain with anhidrosis and progressing acro-osteolysis: a case report with 7-year follow-up
Early intervention and protective measures are crucial for managing CIPA due to the lack of pain and standard treatment.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Adult polycystic ovary syndrome begins in childhood
Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
research Ovarian Leydig cell hyperplasia as a rare cause of hair loss in a postmenopausal female patient: a case report and diagnostic approach toward postmenopausal hyperandrogenism
An 84-year-old woman's hair loss was due to a rare condition called Leydig cell hyperplasia, which was treated with surgery.
research 012 A Case Report of Central Centrifugal Cicatricial Alopecia in Two Generations
CCCA can affect both genders and all ages, and it has a genetic component.
research 5048 A Rare Cause of Hyperandrogenism in Postmenopausal Women: Ovarian Stromal Hyperplasia
Ovarian stromal hyperplasia can cause high testosterone in postmenopausal women and is treated by removing the ovaries.
research Nevus Sebaceus With Novel HRAS Sequence Variant Mutation Misdiagnosed as Alopecia Areata
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Expanding the therapeutic versatility of clacosterone
Clascoterone cream could be used for other skin conditions affected by hormones.
research ACP Broadsheet 131: March 1992. Hirsute women: should they be investigated?
Most women with excess hair growth need only a clinical evaluation and minimal tests unless they show signs of virilism.
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 1375 Cutaneous adnexal cysts revisited: A novel classification based on morphological and molecular features
The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.
research American Association of Clinical Endocrinologists Medical Guidelines for Clinical Practice for the Diagnosis and Treatment of Hyperandrogenic Disorders
The guidelines help doctors diagnose and treat hormone-related disorders in women.
research Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
research Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research 6516 A Curious Case of Cushing Syndrome
A single steroid injection can cause serious side effects like Cushing Syndrome.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research CONGENITAL ATRICHIA.*
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research A Primary Adrenal Non-Hodgkin's Lymphoma Presenting as an Incidental Adrenal Mass
A woman's small, unnoticed adrenal mass turned out to be a rare non-Hodgkin's lymphoma, treated successfully with surgery and therapy.
research Isosexual Precocious Pseudopuberty Secondary to a Testosterone-Secreting Leydig Cell Testicular Tumour: True Isosexual Development Early After Surgery*
A boy's early puberty caused by a testicular tumor returned to normal after surgery.
research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
research 863 Central centrifugal cicatricial alopecia gene expression analysis revealed cholesterol, fatty acid, and mast cell pathways
Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
research Clinical and Trichoscopic Characteristics in a Case of Congenital Triangular Alopecia
Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.