research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
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870-900 / 1000+ resultsresearch 169 Red Sky in Morning: A Case of Concurrent Hematospermia and Anorgasmia
Treating hematospermia can improve sexual function and reduce anxiety.
research SINDROMA CUSHING PADA KEHAMILAN
A pregnant woman with Cushing Syndrome got worse and sadly passed away.
research Constipation With AMA and ANA Positivity as an Atypical Manifestation of Celiac Disease: A Case Report
A strict gluten-free diet can improve liver issues in celiac disease.
research Hair Shaft Dysplasias
Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Modification of hair dysplasia curve by radioprotectors containg sulfur as a function of the x-ray dose.
Sulfur-containing radioprotectors can protect hair from X-ray damage if given before exposure but worsen damage if given after.
research Hypertrichosis lanuginosa acquisita associated with autoimmune hepatitis
HLA can be linked to autoimmune hepatitis.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research Vitamin D-dependent rickets type II. Defective induction of 25-hydroxyvitamin D3-24-hydroxylase by 1,25-dihydroxyvitamin D3 in cultured skin fibroblasts.
Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research Heptaminol-Induced Hair Depigmentation in a Hemodialysis Patient
Stopping heptaminol medication reversed hair color loss in a patient on dialysis.
research Association of Cyp11a Gene with Polycystic Ovarian Syndrome Patients in Lahore, Pakistan
The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.
research ADULT (acro–dermato–ungual–lacrimal–tooth) syndrome: A case report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Ovarian Hemangioma With Stromal Luteinization
The removed ovarian tumor was a rare type of blood vessel tumor that improved the patient's symptoms and hormone levels after surgery.
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 5α-Reductase and 11β-Hydroxysteroid Dehydrogenase Activity in Prepubertal Hispanic Girls with Premature Adrenarche
Enzyme activities do not cause early pubic hair in these girls.
research The human cysteine protease cathepsin V can compensate for murine cathepsin L in mouse epidermis and hair follicles
Human cathepsin V can replace mouse cathepsin L to maintain normal skin and hair in mice.
research The development of portal hypertension and liver failure on the background of long-term intake of vitamin A in a young woman. Case report
A young woman got liver damage from taking too much vitamin A for two years.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Treatment of hirsutism with cimetidine: a prospective randomized controlled trial
Cimetidine did not reduce hair growth in women with hirsutism.
research Combined Alopecia Areata and Acquired Hypertrichosis Lanuginosa in Celiac Disease- A Rarest Phenomenon
A rare combination of hair loss and excessive fine hair growth was found in celiac disease patients.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Insight into the pathogensis of polycystic ovarian syndrome
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
research Ovarian Hilus-Cell Hyperplasia and High Serum Testosterone in a Patient With Postmenopausal Virilization
A woman's male-like symptoms and high testosterone were due to ovarian hilus-cell hyperplasia, which improved after surgery.
research 322 Upregulation of SERPINB3/B4 and S100A7-9 in hidradenitis suppurativa/acne inversa
Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
research AORTOCAVAL PARAGANGLIOMA IN VON HIPPEL-LINDAU DISEASE
VHL disease can cause early paragangliomas, needing lifelong monitoring.
research Expression of 11β-hydroxysteroid dehydrogenase type 1 in visceral and subcutaneous adipose tissues of patients with polycystic ovary syndrome is associated with adiposity
Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.