research Structure of human type II 5 alpha-reductase gene.
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
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960-990 / 1000+ results research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research PMON325 Rare Presentation of Precocious Puberty Secondary to LH-Secreting Adenoma
An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
research 875 Clinical, Histologic and Immunohistochemical Characterization of Mixed Epithelial and Stromal Tumor of the Seminal Vesicle: A Systematic Review and a Novel Case Report
MESTSV is a rare tumor that is mostly benign but needs long-term monitoring due to potential recurrence.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Case 1: Clitoromegaly, Oligomenorrhea, and Hirsutism in a 17-year-old Transgender Male
Parental support and gender-affirming care are crucial for the mental health of transgender adolescents.
research An unusual circulating steroid profile in a virilized postmenopausal woman
A 68-year-old woman developed male traits due to a tumor in her ovary, which was removed, returning her hormone levels to normal.
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 Strumal Carcinoid Tumor of the Ovary
A woman's ovarian tumor causing high testosterone was successfully removed, and her symptoms improved.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research Refractory dissecting cellulitis of the scalp treated with risankizumab: 2 case reports
Risankizumab may help manage symptoms of dissecting cellulitis of the scalp.
research Dermatitis Cruris Pustulosa et Atrophicans: Scarring Alopecia Beyond Scalp Hair
DCPA is a chronic skin condition affecting the legs, often misdiagnosed, and needs more research for better understanding and treatment.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Sexual difference, identification and object choice in individuals with sex differentiation disorders
Gender identity doesn't determine who people are attracted to or their sexual practices.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Ring-shaped Alopecia on the Scalp in a 3-month-old Infant
The infant's hair loss resolved naturally by 20 months without treatment.
research Telogen effluvium on the unilateral flank with testicular tumor in a dog
A dog's hair loss was caused by a hormone-secreting testicular tumor.
research (PNM-35) Recurrent priapism in a sickle cell disease patient treated with gonadotropin-releasing hormone (GnRH) agonists drugs: a case report
GnRH agonists can help manage recurrent priapism in sickle cell patients, but long-term safety is unclear.
research An Infant with Worsening Rash
The rash on the infant indicated a serious underlying condition.
research SAT-080 An Atypical Adenoma Presenting with Hyperandrogenism: A Rare Case Presentation on a Pituitary Germ Cell Tumor
A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
research Trichostasis spinulosa: An overlooked entity
Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
research Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency
Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research 2022-RA-705-ESGO Ovarian Leydig Cell Tumor: Cause of Virilization in a Postmenopausal Woman
A rare, non-cancerous ovarian tumor was successfully treated with surgery, improving the patient's symptoms.
research Patient reported androgen driven phenotypes do not associate with biochemical recurrence after radical prostatectomy
Androgen-driven traits don't predict prostate cancer recurrence.
research POSTMENOPAUSAL VIRILIZATION
Thorough evaluation is crucial for postmenopausal women with virilization to detect rare ovarian tumors.
research Rotterdam criteria–based diagnostic subtype is not a strong predictor of cutaneous phenotype in patients with polycystic ovary syndrome: A cross-sectional study
The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
research 797 The Development and Management of Neck Burn Scar Contracture Recurrence: A Single-Center Retrospective Cohort Study
Neck burn scar contracture recurrence is more likely with larger neck defects, and closer follow-up can help detect it sooner.
research Invasive cutaneous squamous cell carcinoma of scalp: A case report
A man with a rare scalp cancer was successfully treated, highlighting the need for early management to prevent spread and complications.