Endocrine Abstracts

Introduction: Hepatocyte nuclear factor 1A MODY (HNF1A-MODY) is the most common form of Maturity-onset diabetes of the young (MODY) diagnosed in adults. It is caused by heterozygous mutations in the HNF1A gene and is associated with progressive β-cell failure and increasing hyperglycemia due to reduced insulin secretion. HNF1A-MODY is characterized by a large phenotypic variability. We herein report the case of a 40-year-old diabetic woman who was identified as h...

Introduction: Cushing’s disease is a rare condition observed in about 8–10% of patients with pituitary tumor. In the majority of cases, corticotroph adenomas are small, intrasellar and less than 10mm in diameter, while macroadenomas occur in 4–10% of the patients. An observation of two clinical cases is reported. The observationCase number 1: a female patient aged 31, hospitalized for suspected Cushing’s dis...

Background: Pituitary metastasis are rare, however, not well-documented. They are usually encountered in elderly patients with disseminated malignant disease. The most frequent are metastases of breast and lung cancer. We herein report a case of an old patient with pituitary metastasis of a mediastinal lymphoma.Case report: A 88-year-old man with a history of treated prostate cancer and primary hypothyroidism presented to our emergency department with he...

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (AI) with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, asplenism and pneumonitis are also observed but their incidence remains unknown and their mechanisms not well understood. APECED has been poorly reported in France alt...