Case Study in 2010

Despite remarkable progress in the diagnosis and treatment of primary adrenal insufficiency, patients still suffer from delayed diagnosis, impaired well-being and the risk of life-threatening adrenal crisis. This Case Study highlights the need to evaluate individuals with chronic hyponatremia or unexplained weight loss and lack of energy for adrenal insufficiency.

Pituitary stalk thickening may occur as a result of diverse causes, including neoplastic, inflammatory and infectious diseases, and may lead to central diabetes insipidus, anterior hypopituitarism and local mass effect. This report discusses the case of a patient with pituitary stalk thickening associated with Langerhans cell histiocytosis, and highlights pertinent diagnostic and management issues.

This Case Study describes an 18-year-old Somali man who initially presented to medical care with behavioral problems and was later diagnosed as having Klinefelter syndrome. Presented from the perspective of the primary care provider, this case illustrates the challenges in the clinical diagnosis and issues associated with long-term management of this relatively under-recognized condition.

This Case Study describes an infant diagnosed as having focal congenital hyperinsulinism associated with septo-optic dysplasia, highlighting the importance of maintaining a high degree of suspicion in all infants who are investigated for chronic hypoglycemia. The authors report an as yet unidentified genetic etiology that may account for both focal congenital hyperinsulinism and septo-optic dysplasia.

Lymphocytic hypophysitis—an inflammatory condition of presumed autoimmune etiology—is characterized by an enlargement of the pituitary gland, resulting in its dysfunction. Although found generally in peripartum women, this Case Study of a 29-year-old man, who was referred to a neurosurgical clinic for evaluation of a suprasellar mass and diabetes insipidus, illustrates the need to consider this disorder in men.

The authors of this Case Study demonstrate the substantial impact of molecular genetic testing in the improvement of diagnostics and patient treatment on the basis of the case of a 17-year-old patient who was diagnosed as having type 1 diabetes mellitus in early infancy, but after reassessment was found to have neonatal diabetes mellitus owing to a Kir6.2 mutation.

This Case Study describes a patient diagnosed as having celiac disease as a result of examinations for secondary causes of bone loss. As osteoporosis in patients with celiac disease might result from a reduction of nutrient absorption in the small bowel, leading to calcium and/or vitamin D deficiency, the investigators highlight the need to evaluate secondary causes of osteoporosis in patients with persistent decline in BMD, particularly in postmenopausal women after treatment with hormone replacement therapy.

A thorough understanding of the diagnosis and treatment of familial paraganglioma syndromes is required for optimal therapy and management of patients with mutations of the succinate dehydrogenase complex. In this Case Study, Ayala-Ramirez and colleagues discuss current techniques for the localization of pheochromocytomas, paragangliomas and gastrointestinal stromal tumors and address the controversies of surgical removal of bilateral pheochromocytomas caused by a hereditary syndrome in a patient with Carney-Stratakis syndrome and paraganglioma syndrome type 1.

Advances in organ and tissue transplantation continue to improve the care of patients with multiple diseases. The authors present the case of a patient with hypopituitarism secondary to a suprasellar mass, in whom the first documented pituitary gland transplantation was performed. This case study illustrates Harvey Cushing's pioneering work in pituitary transplantation in the early 20th century and the essential relationship between laboratory research and clinical practice.