Case Study in 2008

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.

This article describes a patient with Cushing syndrome presumably attributable to an adrenocortical carcinoma arising from testicular adrenal rest cells. The authors discuss treatment options for adrenocorticotropic hormone-independent hypercortisolism and highlight the difficulties in determining the origin of ectopic cortisol production.

Pituitary apoplexy, caused by infarction or hemorrhage within the pituitary gland, usually presents with headache, visual disturbance and decreased consciousness. The coincidence of these symptoms with those of more common medical emergencies might delay the diagnosis, as in the patient described here. The authors discuss diagnostic and management approaches for this potentially life-threatening syndrome.

Since a 'type 2 phenotype' has become increasingly common in patients with type 1 diabetes, the etiology of diabetes can no longer be established exclusively on the basis of phenotypic presentation. This Case Study illustrates the difficulty of diagnosis in an obese adolescent with new onset diabetes, and discusses management and follow-up strategies.

Some patients with Turner syndrome have a karyotype showing mosaicism. This article describes the case of a boy with 45,X0/46,XY mosaicism, often referred to as mixed gonadal dysgenesis, who was evaluated for short stature. Different types of Turner syndrome mosaicism and their associated phenotypes, as well as the management of short stature in these patients, are discussed.

Struma ovarii is a rare tumor, characterized by the presence of thyroid tissue in an ovarian teratoma. In this article Yassa et al. describe a patient who presented to her gynecologist with a pelvic mass, which was found to be a malignant struma ovarii. The investigations and treatment options for this tumor are described.

Obesity can be a cause of secondary hypogonadism. This article describes a male patient with infertility in the setting of obesity, who was successfully treated with the aromatase inhibitor anastrozole. The authors illustrate the connections between adiposity, aromatase expression, testosterone and estradiol levels, and the suppression of gonadotropin release and spermatogenesis.

The patient described in this article had a history of hereditary primary hyperparathyroidism, which is usually treated surgically. When the patient developed a recurrent parathyroid adenoma she refused surgery and in this Case Study the authors describe, for the first time, the use of the calcimimetic cinacalcet in a patient with hereditary primary hyperparathyroidism.

Hirsutism is a common presenting complaint in women of reproductive age and can cause significant psychological distress and embarrassment. This article describes the case of a 20-year-old woman in whom hirsutism was caused by polycystic ovary syndrome, and illustrates the clinical assessment, investigations and management of a patient with hirsutism.

Contrary to the assumption that gonadotrope pituitary adenomas are non-functioning, these tumors can be functional and lead to the development of the ovarian hyperstimulation syndrome. This article describes a patient with a 15-year history of galactorrhea and multicystic ovaries caused by a gonadotrope-secreting pituitary adenoma.

There is a high frequency of germline mutations in patients with pheochromocytomas and paragangliomas. This article describes a patient with a pheochromocytoma and a novelSDHCmutation. The authors highlight the importance of genetic testing in patients with the pheochromocytoma–paraganglioma syndrome.

Patients with Turner's syndrome are often diagnosed late. The patient described in this article was diagnosed at the age of 15 years. The use of hormone-replacement therapy as well as growth-promoting therapy are discussed.

Primary hyperparathyroidism is hereditary in 10% of patients. This article describes a patient with familial isolated hyperparathyroidism (FIHP) caused by a novel MEN1 missense mutation. The genetics, differential diagnosis and management of hereditary hyperparathyroidism are illustrated.