Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-229032
Abstract: A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures. He was incidentally found to have advanced Tanner staging on physical examination. Hormonal testing revealed… read more here.
Keywords: endocrine abnormalities; precocious puberty; case; cardiofaciocutaneous syndrome ... See more keywords
PES Syndrome Presenting as Severe Hyponatremia in an Asymptomatic Septuagenarian
Sign Up to like & getrecommendations! Published in 2021 at "Case Reports in Endocrinology"
DOI: 10.1155/2021/8891881
Abstract: Background Hyponatremia is commonly seen in hospitalized patients. In euvolemic individuals, syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common differential. However, before establishing a diagnosis of SIADH, it is imperative to evaluate for… read more here.
Keywords: endocrine abnormalities; severe hyponatremia; hyponatremia; presenting severe ... See more keywords