research Micturitional disturbance in a patient with adrenomyeloneuropathy (AMN)
AMN can cause bladder problems due to nerve damage.
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research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research SUN-174 Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Resection of a pure androgen secreting adrenal adenoma in a postmenopausal woman: a case report
Removing an adrenal tumor can significantly reduce high androgen levels in postmenopausal women.
research Coexistence of a Basal Cell Carcinoma and Leiomyosarcoma
A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.
research Trichilemmoma.Features of keratin expression in CS-5 trichocyst system tumors.
Immunohistochemistry helps accurately identify and differentiate malignant trichilemmoma.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
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 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Subtle Trichilemmal Carcinoma of Neck Initially Misdiagnosed as Benign Cyst and Ultimately Treated with Mohs Micrographic Surgery
A neck lesion misdiagnosed as benign was later treated successfully with Mohs Micrographic Surgery.
research Steroidogenesis of the testis – new genes and pathways
New genes and pathways are important for testosterone production and male sexual development.
research Leydig cell hyperplasia as a cause of virilization in a postmenopausal woman: A case report
Leydig cell hyperplasia can cause virilization in postmenopausal women and is treatable with surgery.
research Trichilemmal Carcinoma of the Thigh
Trichilemmal carcinoma is rare, usually benign after removal, but needs close follow-up due to recurrence risks.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Solitary Basaloid Follicular Hamartoma: A Report of Two Cases.
Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.
research 571 Role of observation for excisionally biopsied moderately dysplastic nevi with positive histologic margins and risk of development of future melanoma
Watching, not removing, skin growths with moderate atypia and positive edges is okay; patients may get melanoma elsewhere, especially if they've had it before.
research Suppression of spermatogenesis with desogestrel and testosterone pellets is not enhanced by addition of finasteride.
research Diffuse neurofibroma of the scalp with alopecia areata as the initial presentation: a case report
A man with hair loss and a scalp lump was diagnosed with a diffuse neurofibroma but chose not to have surgery.
research Congenital cutaneous lymphadenoma
An 8-year-old girl had a rare, benign skin tumor on her forehead.
research Spontaneous Pathology of Endangered Geriatric Julia Creek Dunnarts (Sminthopsis douglasi, Archer 1979) with Emphasis in Reproductive Pathology
Older Julia Creek dunnarts often have reproductive and hormonal health issues.
research Trichoadenoma of vulva: A rare case with rare site of presentation
A rare non-cancerous tumor that grows like hair was found in an unusual spot, the vulva.
research Allopregnanolone promotes proliferation and differential gene expression in human glioblastoma cells
Allopregnanolone increases growth and changes gene activity in human brain cancer cells.
research Hyaluronate Accumulation and Decreased CD44 Expression in Perifollicular Solitary Cutaneous Myxoma
Reduced CD44 expression may cause abnormal hyaluronate buildup in cutaneous myxoma.
research Diabetes in a Bearded Woman
A woman's diabetes improved after removing ovarian tumors that caused high testosterone levels.
research Huge Proliferating Trichilemmal Tumors of the Scalp: Report of Six Cases
Complete removal of scalp tumors is crucial, but malignant cases may recur or metastasize, requiring a multidisciplinary approach and close follow-up.