Searchable abstracts of presentations at key conferences in endocrinology

ea0063p1074 | Pituitary and Neuroendocrinology 3 | ECE2019

Local myofascitis: an unusual adverse reaction to lanreotide autogel injections

Hage Mirella , Marin Cristi , Bakopoulou Sophia , Marcellus Capucine De , Guyot Alexis , Gaillard Stephan , Raffin-Sanson Marie Laure , Cazabat Laure

Background: Somatostatin analogues are the mainstay medical treatment of acromegaly. Side effect of this treatment includes gastrointestinal disturbances, cholelithiasis, and local reactions at injection sites. Herein we report an unusual case of local myofascitis after one-year treatment with deep subcutaneous injections of lanreotide Autogel in a patient with acromegalo-gigantism.Clinical case: A 25-year-old man was found to have an invasive macroadeno...

ea0022oc4.4 | Adrenals | ECE2010

Combined anticortisolic therapy by metyrapone, ketoconazole and mitotane: an alternative to adrenalectomy in severe Cushing’s syndrome

Kamenicky Peter , Droumaguet Celine , Baudin Eric , Salenave Sylvie , Trabado Severine , Cazabat Laure , Chanson Philippe , Young Jacques

Context: Mitotane due to its adrenolytic action is highly effective in long-term management of ACTH-dependent CushingÂ’s syndrome (CS). However, the slow onset of its anticortisolic effect makes its use problematic in severe CS, when very rapid therapeutic response is required. Association with metyrapone and ketoconazole, rapidly acting steroidogenesis inhibitors, could warrant CS control while waiting for the full efficiency of mitotane and thus avoid urgently performed ...

ea0016oc4.1 | Bone and adrenal | ECE2008

Inactivation of the Carney complex (CNC) gene 1 (PKA regulatory subunit 1A, PRKAR1A) by interference RNA alters multiple signaling pathways and decreases apoptosis

Ragazzon Bruno , Cazabat Laure , Rizk-Rabin Marthe , Perlemoine Karine , Martinez Antoine , Bertherat Jerome

The cAMP signaling pathway plays an important role in cell proliferation and differentiation, and can be altered at multiple levels in endocrine tumors. Its central component is the protein kinase A (PKA). Inactivating mutations of PRKAR1A are observed in CNC (a dominant autosomal hereditary disease responsible for primary pigmented nodular adrenocortical disease, cardiac myxoma and lentiginosis). Most PRKAR1A mutations lead to mRNA unstability and protein degrad...

ea0016p656 | Signal transduction | ECE2008

Consequences of PRKAR1A (Carney complex gene) inactivation on cellular and subcellular PKA activity monitored by FRET-based reporters

Cazabat Laure , Ragazzon Bruno , Varin Audrey , Perlemoine Karine , Zhang Jin , Bertherat Jerome , Vandecasteele Gregoire

cAMP/PKA pathway activation is frequently involved in endocrine tumors with overactivity. The Carney complex (CNC) is an autosomal dominant multiple endocrine neoplasia syndrome which associates cardiac myxomas, spotty skin pigmentation and endocrine overactivity. Mutations in the PRKAR1A gene located at 17q22-24 and encoding for the R1A regulatory subunit of protein kinase A have been found in about 60% of CNC. These mutations are heterozygous germline mutations leading to ab...

ea0070aep163 | Bone and Calcium | ECE2020

Case report: Refractory hypercalcemia due to a pancreatic neuroendocrine tumor misdiagnosed as adenocarcinoma

Hage Mirella , Hescot Ségolène , Asnacios Amani , Bakopoulou Sophia , Cazabat Laure , Houillier Pascal , Jean Francois Emile , Raffin-Sanson Marie-Laure

Background: Hypercalcemia is a well-described paraneoplastic manifestation encountered in a variety of malignancies. However, it is rarely the initial feature of a neuroendocrine tumor.Herein we report a caseof metastatic pancreatic neuroendocrine tumor (NET)presenting with a refractory hypercalcemia and initially misdiagnosed as an adenocarcinoma of the pancreas.Objective: The aim of this case report is to illustratesome of thecom...

ea0070aep785 | Reproductive and Developmental Endocrinology | ECE2020

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome

Hage Mirella , Drui Delphine , Ecomard Marie-Adèle , Mercier Sandra , Guiochon-Mantel Anne , Belaisch-Allart Joelle , Cazabat Laure , De Mazancourt Philippe , Raffin-Sanson Marie-Laure

Context: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disordercaused by mutations in the androgen receptor (AR) gene resulting in variable target tissue resistance to androgen action. The underlying molecular defect causes a spectrum of androgen dysfunction ranging from gynecomastia and/or infertility in mild AIS (MAIS) to variable degrees of ambiguous or undermasculinized genitalia in partial AIS to complete testicular feminization in complete A...