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Identification of CENPM as a key gene driving adrenocortical carcinoma metastasis via physical interaction with immune checkpoint ligand FGL1.
Clin Transl Med
January 2025
Department of Physiology, School of Basic Medicine, Shandong Second Medical University, Weifang, China.
Background: Distant metastasis occurs in the majority of adrenocortical carcinoma (ACC), leading to an extremely poor prognosis. However, the key genes driving ACC metastasis remain unclear.
Methods: Weighted gene co-expression network analysis (WGCNA) and functional enrichment analysis were conducted to identify ACC metastasis-related genes.
Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.
BMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
View Article and Find Full Text PDFInfant With Beckwith-Wiedemann Requiring Transplant for Hepatic Mesenchymal Hamartoma.
Pediatr Transplant
February 2025
Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
Background: Liver transplantation for unresectable, benign hepatic lesions is rare. Hepatic mesenchymal hamartomas (HMH) are benign, cystic tumors that arise mostly in pediatric populations and can cause compressive symptoms. HMH is rarely associated with placental mesenchymal dysplasia (PMD) and Beckwith-Wiedemann syndrome (BWS).
View Article and Find Full Text PDFConcurrent Adrenal Adenoma, Unilateral Adrenal Hyperplasia, and Bilateral Renal Artery Stenosis in a 61-Year-Old Man.
Am J Mens Health
December 2024
Department of Radiology, Faculté de Médecine de Sousse, Université de Sousse, Hôpital Farhat Hached, Sousse, Tunisie.
We report a case of a very rare association of adrenal adenoma, unilateral adrenal hyperplasia, and bilateral renal artery stenosis. A 61-year-old man with a remarkable history of two severe strokes was admitted to the Nephrology department with hypertension associated with severe hypokalemia and metabolic alkalosis. Doppler of renal arteries was not conclusive, so contrast-enhanced scanning was done revealing a left adrenal adenoma, right adrenal hyperplasia, and bilateral moderate renal artery stenosis.
View Article and Find Full Text PDFAntenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns.
J Clin Res Pediatr Endocrinol
December 2024
Department of Pediatric Endocrinology, Marmara University, School of Medicine, Istanbul, Turkiye.
Signs of virilization, such as clitoromegaly, labio-scrotal fusion, and urogenital sinus may be observed in females with 21-hydroxylase deficiency (21-OHD) and other rare virilizing forms of congenital adrenal hyperplasia (CAH). This makes sex determination difficult, and multiple reconstructive surgeries in the postnatal period may be required. As 21-OHD is an autosomal recessive disease, the chance of any child being affected is one in four and so only one in eight will be an affected female.
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