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Congenital adrenal hyperplasia (CAH) arises from genetic enzyme defects, often in CYP21A2, causing primary adrenal insufficiency. In this case report, a man in his late 20s with lifelong CAH faced challenges in adhering to medication. Suboptimal treatment led to the development of testicular adrenal rest tumours, diagnosed by ultrasound, and hypogonadism.
View Article and Find Full Text PDFIncidental Finding of Bilateral Ovarian Adrenal Rest Tumor in a Patient With Congenital Adrenal Hyperplasia: A Case Report and Brief Review.
Pediatr Dev Pathol
November 2021
Department of Pathology, Habib Bourguiba University Hospital, Sfax, Tunisia.
Ovarian adrenal rest tumors (OART) are tumors that develop in females with congenital adrenal hyperplasia (CAH). In contrast to their counterpart in testicles, they are exceptional and few cases have been reported in the literature. In this report, we present clinicopathological findings of a female patient with CAH due to 21-hydroxylase deficiency who was incidentally diagnosed with OART with a review of the literature.
View Article and Find Full Text PDFExome-based search for recurrent disease-causing alleles in Russian population.
Eur J Med Genet
July 2019
St. Petersburg Pediatric Medical University, 194100, St. Petersburg, Russia; N.N. Petrov Institute of Oncology, 197758, St. Petersburg, Russia; I.I. Mechnikov North-Western Medical University, 191015, St. Petersburg, Russia; St. Petersburg State University, 199034, St. Petersburg, Russia.
Exomes of 27 Russian subjects were analyzed for the presence of medically relevant alleles, such as protein-truncating variants (PTVs) in known recessive disease-associated genes and pathogenic missense mutations included in the ClinVar database. 36 variants (24 PTVs and 12 amino acid substitutions) were identified and then subjected to the analysis in 897 population controls. 9/36 mutations were novel, however only two of them (POLH c.
View Article and Find Full Text PDFDuring 2002-2017, the most common incident adrenal gland disorder among male and female service members was adrenal insufficiency and the least common was adrenomedullary hyperfunction. Adrenal insufficiency was diagnosed among 267 females (crude overall incidence rate: 8.2 cases per 100,000 person-years [p-yrs]) and 729 males (3.
View Article and Find Full Text PDFGiant Cavernous Hemangioma of the Adrenal Gland in an Elderly Patient.
Intern Med
May 2018
Department of Internal Medicine. Division of Diabetes, Metabolism and Endocrinology, Japan.
Cavernous hemangioma is a rare, non-functional, benign adrenal tumor. Adrenal cavernous hemangioma is often diagnosed after surgery with a histologic examination. A 70-year-old man complaining of appetite loss was admitted to our hospital.
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