Reviews & Analysis

This Case Study illustrates some of the potential pitfalls of diagnosis and demonstrates a combination of problems of follow-up biochemical screening in a patient operated for a large pheochromocytoma at increased risk of malignant disease. The difficulty in assessing the presence of disease after initial surgical resection and reaching a diagnosis of malignancy are highlighted.

Virilizing ovarian tumors are rare neoplasms that may affect both women of reproductive age and postmenopausal women. This Case Study describes a young woman with longstanding amenorrhea and virilization and highlights the challenges and pitfalls in the diagnosis and choice of proper treatment for this uncommon cause of female hyperandrogenism.

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.

Initial diagnosis of insulinoma requires demonstration of inappropriately elevated insulin levels and concurrent hypoglycemia in the absence of administration of exogenous insulin or sulphonylureas. This article presents the case of a patient with insulinoma, who presented with hypoglycemia without coinciding evident hyperinsulinemia according to current guidelines. The article details current diagnostic criteria and highlights the role of clinical judgment in the investigation and management of cases, which do not conform to an expected pattern.

Charcot arthropathy of the neuropathic foot and ankle is characterized by bone and joint destruction and deformities that may lead to ulcer, soft tissue infection, osteomyelitis and amputation. This article reviews the evaluation and treatment of this condition, highlighted by a clinical case of a man with type 2 diabetes mellitus who had Charcot collapse of the longitudinal arch, rocker bottom deformity and plantar ulcer.

This case illustrates some of the difficulties in treating anovulatory women with polycystic ovary syndrome, which is the most common cause of anovulatory infertility. Insulin resistance is a contributing factor to the pathogenesis of the syndrome. Assisted conception therapy is an effective treatment for women with polycystic ovary syndrome who are refractory to standard ovulation induction therapies or who have co-existing infertility factors. However, women with polycystic ovaries are particularly sensitive to stimulation with gonadotropins and have an increased risk of developing ovarian hyperstimulation syndrome.

This article presents the case of a child with pseudohypoparathyroidism type 1a and associated endocrinopathies, namely, growth hormone deficiency, hypothyroidism, parathyroid hormone resistance and insulin resistance. The article details the natural history and management of these endocrinopathies, including the controversy over growth-hormone therapy, and potential mechanisms for insulin resistance in pseudohypoparathyroidism type 1a.

Gastroparesis is a complication of diabetes mellitus that is associated with prolonged periods of suboptimal glycemic control. This article describes a patient who had diabetic gastroparesis that was unresponsive to conventional treatments. Her severe vomiting was successfully controlled by use of the antiemetic drug aprepitant for 4 months before a gastric electrical stimulation device was fitted.

Childhood obesity is a serious public health concern. This Case Study discusses the evaluation and treatment of a child with obesity. The article details how careful assessment can exclude genetic causes of obesity in most children and outlines how children without genetic causes of the condition can benefit from individualized lifestyle modification programs.

Generalized arterial calcification of infancy is a rare and often fatal genetic disorder, for which no formalized treatment approach exists. This article describes a case where treatment with nitrogen-containing bisphosphonates resulted in normalization of the arterial structure.

Cyclic Cushing syndrome is a rare disorder characterized by periodic fluctuations in adrenal cortisol secretion, with phases of hypercortisolism alternating with periods of normal or low cortisol production. This Case Study discusses diagnostic challenges and treatment options in a patient with cyclic Cushing syndrome due to an ectopic pituitary adenoma.

Emotional stress might affect thyroid function by causing immunological perturbations and also via neural pathways. This article demonstrates a case in which both the onset of Graves disease and later exacerbations of hyperthyroidism were triggered by stressful events, and discusses management strategies for patients with stress-related Graves disease.