research Case 5: A Very Tall 7-year-old Boy with Medulloblastoma
A 7-year-old boy with a brain tumor developed early puberty, which was successfully treated with medication.
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870-900 / 1000+ results research Human Osteoblast-Like Cells Express Predominantly Steroid 5α-Reductase Type 1
Human bone cells mainly produce a type 1 enzyme that may help regulate bone health.
research Hyperprogesteronemia associated with Sertoli cell tumor and alopecia in a dog
Castration helped a dog with a tumor and hair loss by normalizing hormone levels and regrowing hair.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Pathogenesis of pili annulati
Pili annulati is caused by a protein metabolism disorder affecting hair structure.
research Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency
Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.
research [Dermatologic aspects of male hypogonadism].
Male hypogonadism affects skin and hair, causing thin skin, less hair, and skin reactions to treatment.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up
Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research Molecular mechanisms of Y chromosome loss and UTY gene activity
Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Nonclassic Congenital Adrenal Hyperplasia
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research Screening for 21-hydroxylase–deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study
Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.
research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research Abnormal inner root sheath of the hair follicle in the loose anagen hair syndrome: An ultrastructural study
Loose anagen hair syndrome is caused by structural abnormalities in the hair follicle's inner root sheath.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Delayed Puberty
Delayed puberty affects some teens, and early treatment with hormones can help improve their growth and social well-being.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research An unusual case of quadruple polyorchidism in a human cadaver mimicking bilateral lipoma
A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
research Osseous Metaplasia and Mature Bone Formation With Extramedullary Hematopoiesis in Trichilemmal Cyst
Ossification in trichilemmal cysts is more common than previously believed.