research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
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900-930 / 1000+ resultsresearch Morphology of the testis and the epididymis in rats with dihydrotestosterone (DHT) deficiency.
DHT deficiency in rats reduces sperm content and affects testis structure over time.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research An Unusual but Important Cause of Hyperandrogenism in Women
A woman's high testosterone levels were caused by a rare ovarian tumor, not the initially diagnosed condition.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research The Hair-An Syndrome: A Report of a Misdiagnosed Case with Unfortunate Outcome
A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
research Hyperandrogenism in a set of triplets with modification of clinical course by hyperthyroidism
Hyperthyroidism can hide signs of high androgen levels in females.
research A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia
Most women with hirsutism or androgenic alopecia had polycystic ovaries, especially if they had irregular periods.
research Clinical Case Notes. Lipoid proteinosis: a rare disorder with pathognomonic lid lesions
A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
research Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population
The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
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 Melanocyte and gonad activity as potential severity modifying factors in C3H/HeJ mouse alopecia areata
Gonadal hormones significantly affect the severity of alopecia areata in mice.
research [Hyperprolactinemia and hypophyseal hypothyroidism as cofactors in hirsutism and androgen-induced alopecia in women].
Hormonal imbalances, including high prolactin and thyroid issues, contribute to hair growth problems in women.
research Testosterone metabolism in the skin. A review of its function in androgenetic alopecia, acne vulgaris, and idiopathic hirsutism including recent studies with antiandrogens
Testosterone affects hair loss, acne, and excessive hair growth, and antiandrogens can help treat these conditions.
research Is 3α, 17β-androstanediol-glucuronide a diagnostic marker in women with androgenic manifestations?
3α, 17β-androstanediol-glucuronide is not a useful marker for androgen excess but may help monitor certain treatments.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPH mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research The enzyme and inhibitors of 4-ene-3-oxosteroid 5α-oxidoreductase
Inhibitors of the enzyme 5 alpha-reductase could potentially treat disorders like prostate cancer and baldness.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Hair Amino Acids: Normal Values and Results in Metabolic Errors
Hair amino acid levels can indicate metabolic disorders.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Alopecia in a 19-Month-Old Boy
A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
research Sexual Function and Depressive Symptoms in Young Women With Nonclassic Congenital Adrenal Hyperplasia
Young women with nonclassic congenital adrenal hyperplasia may experience worse sexual function and mild depression compared to healthy women.
research New onset of alopecia in a young woman with end-stage renal disease
A young woman with kidney failure had hair loss due to a common hormonal disorder, which improved with hormone therapy.
research Sex Steroids, Precursors, and Metabolite Deficiencies in Men With Isolated Hypogonadotropic Hypogonadism and Panhypopituitarism: A GCMS-Based Comparative Study
Men with isolated hypogonadotropic hypogonadism have partial steroid deficiencies, while those with panhypopituitarism have severe deficiencies.
research Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia)
A new system helps better diagnose and treat female androgenization conditions like PCOS.