research [A case report of Cushing's syndrome due to an adrenal carcinoma].
A woman's Cushing's syndrome caused by adrenal cancer improved after surgery.
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research PA15 Becker naevus syndrome associated with a mosaic pathogenic variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Hair Tourniquet Syndrome of the Toe: Report of 2 New Cases
Two babies needed surgery to remove hair tightly wrapped around their toes to prevent serious injury.
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 Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization)
A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
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 Clinical case of a patient with progressive supranuclear palsy – from symptom to diagnosis
Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Estudio clínico-patológico sobre el cáncer de próstata incidental en pacientes intervenidos bajo el supuesto diagnóstico de HBP sintomática
Incidental prostate cancer was found in 4.89% of patients undergoing surgery for benign prostatic hyperplasia.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research 9243 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
A rare ovarian tumor caused high testosterone in a postmenopausal woman, resolved by surgery.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Case Report: Exceptional Association of Leydig Cell Ovarian Tumor and Primary Hyperparathyroidism in a Postmenopausal Patient
A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
research [Cushing syndrome during pregnancy. New diagnostic methods used in 3 cases of adrenal cortex carcinoma].
Early detection of Cushing's syndrome during pregnancy is crucial to prevent severe complications.
research 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
research フィナステリド中止後もリビドー消失が持続しPost finasteride syndromeが疑われた1例
research フィナステリド中止後もリビドー消失が持続しPost finasteride syndromeが疑われた1例
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Post-Exposure Syndromes as State-Space Trapping: A set-theoretic perspective on PSSD and the post-exposure family.
Post-exposure syndromes are persistent conditions caused by past exposures, needing unique interventions.
research Post-Exposure Syndromes as State-Space Trapping: A set-theoretic perspective on PSSD and the post-exposure family.
Post-Exposure Syndromes are persistent conditions caused by past exposures, needing unique interventions.
research PMON319 A Pure Androgen Secreting Adrenal - Cortical Tumor in a 13 Year Old Female
A 13-year-old girl's masculine symptoms improved after surgery for a rare adrenal tumor that produced male hormones.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
research Penile Thread Tourniquet Syndrome: A Case Report and Review of Age-Related Variability
Awareness of Penile Thread Tourniquet Syndrome is crucial for preventing severe complications in children.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research Case Report: Postmenopausal hyperandrogenism misled by adrenal incidentaloma: a rare case of androgen-secreting ovarian adult granulosa cell tumor and clinical implications
Thorough evaluation and surgery are crucial for managing rare ovarian tumors in postmenopausal women with high androgen levels.