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This piece discusses the conditions of three children with disparate symptoms—suggesting silent aspiration, exogenous androgen exposure, and long QT syndrome—and emphasizes comprehensive assessment and history for correct diagnosis and management.

In this study, children with classical congenital adrenal hyperplasia were found to have increased epicardial fat thickness, which was associated with subclinical atherosclerosis markers and left ventricular dysfunction, especially in poorly controlled cases.

This case report describes a 43-year-old woman with achalasia, pangastritis, and hyperthyroidism, highlighting the rare association between achalasia and autoimmune conditions like hyperthyroidism.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

In this prospective observational study, researchers observed that hyperthyroidism significantly affects cardiac function, often resulting in reversible cardiac changes, with echocardiography playing a crucial role in diagnosis and monitoring.

This case report highlights the importance of trans-esophageal echocardiography in distinguishing Libman-Sacks endocarditis from infective endocarditis in systemic lupus erythematosus patients, guiding appropriate treatment for associated cerebrovascular disease.

This article discusses the symptoms, diagnostic methods, and complications associated with achalasia and reports no new clinical findings.

This study observed that 19% of patients with Graves' orbitopathy experienced induced diplopia after orbital decompression, with high patient satisfaction reported following both coronal and translid approaches.

This case report describes a 70-year-old woman whose cardiac arrest was linked to hyperthyroidism-induced pulmonary hypertension and right ventricular failure, with significant improvement following the treatment of her thyroid dysfunction.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This case report describes two boys with Danon disease, initially misdiagnosed due to increased transaminases, who exhibited cardiac issues and muscle pseudohypertrophy.

This case report highlights a rare instance of late dumping syndrome following fundoplication in an adult, diagnosed using an oral glucose tolerance test, illustrating its potential for reducing diagnostic delays.

This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.

This case report describes a 7-year-old girl initially misdiagnosed with SMA syndrome, but later found to have a gastric trichobezoar via EGD, highlighting the diagnostic challenges in children with nonspecific symptoms.

This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.

This case report describes a 35-year-old woman with a Rathke’s cleft cyst presenting with Cushing disease, highlighting the need to evaluate hormonal hypersecretion in atypical pituitary lesions.

This case report uncovered that hidden dexamethasone in a dietary supplement caused misleading Cushingoid symptoms and lab results, underscoring the risk of undisclosed ingredients in supplements.

This case report describes a 36-year-old female patient with panhypopituitarism, experiencing severe adrenal insufficiency and thyroid hormone deficiency, which led to electrolyte imbalance, QT interval prolongation, and ventricular tachycardia; treatment stabilized her condition, underscoring the importance of hormonal evaluation in arrhythmia assessment.

This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.

This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.

This case report describes an isolated DHEA-S secreting adrenocortical carcinoma in a 52-year-old woman who presented without typical hyperandrogenic symptoms.

In this study, testosterone was found to increase the risk of arrhythmias in a rat heart model, while finasteride reduced this arrhythmogenic effect.

In this case study, a 70-year-old male with lymphoid variant hypereosinophilic syndrome presented with rare isolated pulmonary involvement, which improved with prednisone treatment.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

This case report describes a middle-aged woman whose scalp condition, cutis verticis gyrata, was an early sign of systemic amyloidosis that went undiagnosed until after she experienced a stroke.

This clinical case report identifies xanthomatous hypophysitis in a male patient, highlighting the mismatch between clinical symptoms and MRI findings, which led to a pituitary biopsy and accurate diagnosis instead of unnecessary surgery.

This study reports two new cases of Gomez-Lopez-Hernandez syndrome and suggests that trigeminal anesthesia and/or partial scalp alopecia may be key criteria for diagnosis.

This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.

This report describes a unique anatomical case featuring a detailed formation of a periaortic venous ring in an organic sample.

This study suggests that male sex and androgenic steroid use increase the risk of atrial arrhythmias in individuals with arrhythmogenic right ventricular cardiomyopathy, especially those with desmosomal gene mutations.