Endocrine Abstracts

Context: Mitotane due to its adrenolytic action is highly effective in long-term management of ACTH-dependent Cushing’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 ...

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...

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...

CNC is an autosomal dominant multiple neoplasia syndrome, responsible mainly for cardiac myxomas, pigmented skin lesions and endocrine tumors (acromegaly, thyroid and testicular neoplasms and primary pigmented nodular adrenocortical disease: PPNAD). The PRKAR1A gene was previously found to be mutated in about 41% of CNC kindreds. Most mutations lead to nonsens mediated mRNA decay and preclude expression of the mutant protein. 102 patients (64 with PPNAD and 38 with CNC)...

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...

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...

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...