research Temporal triangular alopecia
Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
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research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research The pediatric origins of polycystic ovary syndrome
Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
research Hazards of Topical Mitotic Blocking Agents
Topical mitotic blocking agents like colchicine can be dangerous and potentially fatal, and hair loss from rapid weight loss is due to low protein, not the speed of weight loss.
research Testosterone- and Cortisol-Secreting Adrenocortical Oncocytoma: An Unusual Cause of Hirsutism
A woman's excessive hair growth was caused by a rare benign tumor in her adrenal gland, which was successfully removed.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.
Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
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 ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
research Hyperandrogenemia in an ethnically heterogeneous cohort of Midwestern United States diabetic gestations
Exposure to fatty acids significantly increased androgen levels in female dogs, suggesting a link to conditions like insulin resistance and PCOS.
research Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
PCOS is likely inherited in families, increasing risk for first-degree relatives.
research 33244 Increased risk of hyperkalemia in older women taking spironolactone for female pattern hair loss
Older women taking spironolactone for hair loss may need yearly potassium checks due to a higher risk of hyperkalemia.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research SUN-115 Leydig Cell Tumor: A Rare Cause of Hyperandrogenism
Leydig cell tumors in the ovary can cause high testosterone and male traits in postmenopausal women but are treatable with surgery.
research Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research Loose anagen syndrome in one identical twin girl.
A 2-year-old girl had a hair disorder not shared by her identical twin.
research Androgen- and Estrogen-Secreting Adrenal Cancers
Rare adrenal cancers that secrete androgens or estrogens have a poor prognosis and are treated primarily with surgery.
research Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
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 33813 Retrospective study of the prevalence of hyperkalemia in women taking spironolactone for acne, hair loss, and hirsutism
Dermatologists should monitor potassium levels in women taking spironolactone for acne, hair loss, and hirsutism.
research AN ATTEMPT TO ASSESS THE MAGNITUDE OF ENDOGENOUS ANDROGEN PRODUCTION IN A CASE OF THE ADRENOGENITAL SYNDROME*
A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
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 KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Ovarian and Adrenal Venous Catheterization for Hyperandrogenism
Venous catheterization may help diagnose the cause of female hyperandrogenism when imaging is unclear.
research Adenoma of the Parathyroid Gland in Children
Parathyroid adenoma can cause hyperparathyroidism and hair loss in children.