research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
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research SUN-LB2 Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome a Report From Saudi Arabia
Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
research Gonadal Function Abnormalities in Sickle Cell Anemia
Sickle cell anemia causes hormone issues and delayed puberty due to testicular failure.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Clinical and Hormonal Evaluation of Androgen Excess
Most cases of high male hormone levels in women are due to polycystic ovary syndrome.
research Multiple Myeloma–Associated Amyloidosis Presenting With Acrolocalized Acquired Cutis Laxa
A man with rare skin changes on his fingers was diagnosed with multiple myeloma-linked amyloidosis.
research A rare clinical image of hypertrichosis (Werewolf syndrome)
Hypertrichosis causes excessive hair growth and needs psychological support due to its impact on self-esteem.
research Mania in Hyperandrogenism, Insulin Resistance, and Nigricans Acanthosis Syndrome
Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
research Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research (26) Acne due to congenital adrenal hyperplasia
Hormonal imbalances in congenital adrenal hyperplasia cause acne.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research MON-024 Steroid Cell Tumor, Not Otherwise Specified; A Rare Case of Hyperandrogenism
A rare ovarian tumor caused high male hormone levels, but surgery fixed it.
research Secondary Cutis Verticis Gyrata Induced by Long-Term Use of High-Dose Topical Minoxidil
Long-term use of high-dose topical minoxidil can cause thickened, ridged scalp.
research Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia
Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
research A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs"
A 4-year-old girl has a rare hair condition causing fragile, short hair.
research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Idiopathic unilateral facial hirsutism
A woman had unusual hair growth on one side of her chin without a known cause.
research Postmenopausal hyperandrogenism due to an ovarian sex cord-stromal tumour causing elevated dehydroepiandrosterone sulphate: a case report
An ovarian tumor can cause high male hormones in postmenopausal women.
research Localized Acquired Alopecia over the Mental Area of Chin
A 12-year-old boy has a rare, harmless hair loss on his chin with no need for treatment.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
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 CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research SAT-LB2 Elevated Testosterone Secondary to Leydig Cell Hyperplasia in Bilateral Ovaries
A woman's high testosterone and related symptoms were caused by overactive cells in her ovaries.
research Two diagnoses become one? Rare case report of anorexia nervosa and Cushing’s syndrome
A woman with anorexia and Cushing's syndrome improved after tumor removal, highlighting the need to consider hormonal issues in psychiatric conditions.