Searchable abstracts of presentations at key conferences in endocrinology

ea0011p493 | Endocrine tumours and neoplasia | ECE2006

Carney’s complex with acromegaly as the leading clinical condition

Fatti LM , Bertola G , Balza G , Lavezzi E , Pecori Giraldi F , Cavagnini F

Carney’s complex was first identified as the association of primary adrenal nodular dysplasia, lentigines and cardiac and skin myxomas. Several other endocrine and non-endocrine disorders were subsequently added to the complex, including pituitary tumors and melanotic Schwannomas. We herewith describe a kindred with Carney’s complex featuring acromegaly as the common denominator.Patients & methods: A 42-year-old woman first presented to our...

ea0066oc4.7 | Oral Communications 4 | BSPED2019

Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway

Chatterjee Sumana , Bertola Debora , Agwu Chizo , Karantza Maria , Cottrell Emily , Shapiro Lucy , Maharaj Avinaash V , Williams Jack , Savage Martin O , Gaston-Massuet Carles , Metherell Louise A , Storr Helen L

Objectives: Noonan Syndrome (NS) is an autosomal dominant multi-system disorder characterised by short stature (SS), distinctive facial features and cardiovascular abnormalities. Mutations in multiple genes regulating the RAS-MAPK pathway have been identified in NS including 5 recently described novel LZTR1 variants. We identified 2 novel LZTR1 variants in patients with features of growth hormone insensitivity and NS. The molecular function of LZTR1 ...