research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
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480-510 / 1000+ resultsresearch Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening
Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
research BH03 Lipoedematous scalp occurring in two female siblings: further evidence of a genetic role?
Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
research A Case Report of Cushing’s Disease Presenting as Hair Loss
Hair loss led to the diagnosis of Cushing's disease in a patient, showing that hair loss can be a sign of hormonal disorders.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research SUN-117 A Rare Case of Virilization in a Postmenopausal Woman with Concurrent Hypercalcemia
A postmenopausal woman had rare symptoms due to a possible ovarian tumor, needing thorough evaluation.
research SAT-134 Postmenopausal Virilization: Rare Case of an Ovarian Tumor Not Easily Identified on Imaging
An ovarian tumor caused a woman's male-like symptoms, which improved after surgery.
research A study of androgenic signs and disorders in Greek female patients with acne
Almost 40% of Greek women with acne show signs of androgen-related disorders, with adult women more likely affected.
research Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency
Gastric bypass surgery improved a woman's hormonal disorder without the need for medication.
research The interaction of hydrocortisone and thyroxine during fetal adipose tissue differentiation: CCAAT enhancing binding protein expression and capillary cytodifferentiation.
Glucocorticoids and thyroid hormones together are essential for fetal fat development.
research Asymmetry of the Receding Hairline in Men With Early Androgenetic Alopecia
Receding hairlines in men are uneven, with the right side larger than the left.
research P-12 ACTH-INDEPENDENT CUSHING SYNDROME WITH INCONCLUSIVE ADRENAL CT SCAN RESULTS
Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
research Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus.
A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research “Osler’s phenomenon”: misdiagnosing Cushing’s syndrome
Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research ADRENAL ONCOCYTOMA IN CHILDREN – case report
A rare adrenal tumor in a 9-year-old girl was successfully treated with surgery.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair
The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
research Hyperandrogenism in a Postmenopausal Woman Secondary to Testosterone Secreting Ovarian Stromal Tumor with Acoustic Schwannoma
A 63-year-old woman's male-like symptoms were caused by a rare testosterone-producing ovarian tumor, treated by removing her ovaries and fallopian tubes.
research Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research Bilateral temporal alopecia in male androgenetic alopecia: An unusual new presentation
Atypical male hair loss may not respond to usual treatments.
research Diagnosis of hyperandrogenism: clinical criteria
The document concludes that hirsutism is the main sign for diagnosing hyperandrogenism, which requires a detailed patient history and physical exam.
research 5116 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
research Co-secretion of testosterone and cortisol by a functional adrenocortical oncocytoma
A woman's rare adrenal tumor caused high testosterone and cortisol levels, which normalized after the tumor was removed.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.
research Dental considerations in acrodermatitis enteropathica: A report of two cases
Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
research A Comparison of the Hormonal Profile of Early Androgenetic Alopecia in Men With the Phenotypic Equivalent of Polycystic Ovarian Syndrome in Women
Men with early hair loss have similar hormone levels to women with PCOS, possibly increasing risk of obesity and heart issues.