Endocrine Abstracts

Initial presentation and work-up: A 42-year-old man was referred to the endocrinologist because of an incidentaloma of the right adrenal with a maximum diameter of 4.2 cm on echography of the abdomen. Echography was performed because the patient presented with icterus. An abdominal CT scan confirmed a right adrenal mass with a maximum diameter of 5.1 cm. The intensity of the adrenal adenoma amounted 39 Hounsfield units. The patient did not have a significant medical history, e...

A 43-year old woman was referred to the endocrinologist due to resistant arterial hypertension with a history of bilateral adrenal hypertrophy. The first medical contact with the patient dates back to 2012 when she was admitted to the urology department. A CT scan of the abdomen revealed a bilateral adrenal mass, hypodens lesions in the liver and a small left kidney. Further imaging with MRI showed similar findings. The liver lesions were described as hemangiomas. Because of h...

Purpose: Deficiency of the adrenocortical axis is, except for glucocorticoid-induced adrenal deficiency, most commonly associated with failure of multiple pituitary axes and is less common isolated. Isolated adrenocorticotropic hormone deficiency (IAD) has been first described by Steinberg et al. in 1954. Acquired idiopathic IAD is defined by a secondary adrenal insufficiency with otherwise normal pituitary function, absence of structural pituitary defects, no...

Introduction: Cushing disease (CD) is a rare pathology and associated with serious complications and an increased mortality (standardized mortality ratio 2.8) (1). The mortality risk is twice as high (standardized mortality ratio 5.7) if CD is biochemically not well controlled. Transsphenoidal tumor resection is the first line treatment. However, the need for second line treatment is high, as 5-50% of patients in remission after surgery relapse and consist of ...

Background: Childhood growth hormone deficiency (GHD) is a clinically heterogeneous condition and may have a genetic basis. Association with abnormalities of eyes, ears, palate and other parts of the forebrain or familial occurrence of GHD suggest a genetic cause (1). The occurrence of childhood GHD in association with gingival fibromatosis led to the identification of two autosomal dominant KCNQ1 missense variants (Arg116Leu and Pro369Leu). KCNQ1 gene encodes...