research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
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research Iraqi Women with Hirsutism, Clinical and Biochemical Characteristics: Retrospective Study
Many Iraqi women with hirsutism also have hypothyroidism and acne.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research Topographical and developmental studies on target sites of 1,25 (OH2) vitamin D3 in skin
Vitamin D3 affects cell differentiation in specific skin areas.
research Clinical Case Seminar: Postmenopausal androgen excess-challenges in diagnostic work-up and management of ovarian thecosis
The conclusion is that removing both ovaries is the best treatment for excess male hormones in postmenopausal women, with medication as another option, and managing insulin resistance is important for diagnosis and treatment.
research Management Approaches to Congenital Adrenal Hyperplasia in Adolescents and Adults; Latest Therapeutic Developments
Glucocorticoid and mineralocorticoid therapy effectively manage Congenital Adrenal Hyperplasia symptoms but have limitations.
research Anabolic effect of dihydrotestosterone in testicular feminization syndrome
Dihydrotestosterone has a reduced effect on muscle-building in people with testicular feminization syndrome, especially after their gonads are removed.
research The prevalence of idiopathic hirsutism and polycystic ovary syndrome in the Tehran Lipid and Glucose Study
About 13% of women had idiopathic hirsutism and 8.5% had polycystic ovary syndrome in a group of Iranian women.
research Dental manifestations in Vitamin D dependent rickets Type II with Alopecia: a short pictorial case report
Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
research Steroid Cell Tumor Without Virilization
A rare ovarian tumor can occur without causing male-like symptoms.
research Bilateral Leydig Cell Hyperplasia: A Rare Cause of Postmenopausal Hirsutism
An unusual growth of Leydig cells in a woman's ovaries caused her excessive hair growth, which was treated successfully with surgery.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research 7 Regulation of androgen receptor and 5α-reductase in the skin of normal and hirsute women
The exact cause of increased 5α-reductase activity leading to hirsutism in women is still unknown.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
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 The impact of VDR expression and regulation in vivo
VDR regulation varies by tissue and is crucial for its biological functions.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Hydroa Vacciniforme with Mucosal Involvement and Recalcitrant Periodontitis and Multiple Virus Re-activators after Sun-exposure
Women with early onset androgenetic alopecia have worse lipid profiles.
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 Trichothiodystrophy
research Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report
Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
research Modulation of Vitamin D Receptor Activity by the Corepressor Hairless: Differential Effects of Hairless Isoforms
Different Hairless isoforms affect Vitamin D receptor activity in hair regulation, with one repressing and the other stimulating it.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
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.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Symptomatic zinc deficiency in a full-term breast-fed infant
Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
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 Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis
The vitamin D receptor is essential for normal hair growth, even without its usual binding.
research Spironolactone treatment of porphyria cutanea tarda-associated hirsutism
Spironolactone helped reduce excessive facial hair in a woman with porphyria cutanea tarda.