A 2-year-old boy with a relatively mild form of Proteus syndrome (PS) died suddenly during a previously uncomplicated postsurgical convalescence. Autopsy demonstrated massive acute pulmonary embolism, which has not been previously reported in PS. In addition, clinically occult mesodermal hamartomata, predominantly hemolymphangiomata, were found to be widespread in the pelvoabdominal ...

Ectopic production of adrenocorticotrophic hormone (ACTH) by malignant neoplasms is a well recognised cause of Cushing's syndrome but is extremely rare in ovarian carcinoma. A patient who underwent surgery for ovarian carcinoma followed by a course of chemotherapy is reported. The tumour was a bilateral moderately differentiated endometrioid adenocarcinoma and ...

We treated two patients with Schmidt's syndrome who showed some differences in the endocrinological findings in adrenal steroidogenesis. However, there had been no reports describing in detail which zone(s) is most usually destroyed in the adrenals in Schmidt's syndrome of which the pathogenesis is thought to be intimately related to ...

A case of a 6 year old boy with Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction is reported. Magnetic resonance imaging revealed abnormal findings of the pituitary gland and stalk. Good catch-up growth was obtained by treatment with growth hormone. These findings suggest that hypothalamic-pituitary ...

A patient was diagnosed with Cushing's syndrome during her first pregnancy. Bilateral simultaneous inferior petrosal sinus corticotropin sampling with corticotropin-releasing hormone stimulation was performed before transphenoidal pituitary adenomectomy, with successful localization of the pituitary adenoma. Her Cushing's syndrome was controlled postoperatively with resolution of hypertension. This case report demonstrates that ...

Bronchial carcinoids are uncommon pulmonary tumors, considered neuroendocrine in origin and all types may produce various hormones. We describe a young woman with a 2-year history of radiographically stable atypical bronchial carcinoid, ectopic ACTH production, and a markedly elevated calcitonin level. The Cushing's syndrome and diarrheal illness were due to ...

A 49-year-old man with classic manifestations of Cushing's syndrome had undetectable levels of ACTH, lack of suppression of hypercortisolism with dexamethasone in doses of 2, 8, or 16 mg per day, bilaterally enlarged adrenal glands on MRI, and bilateral adrenal uptake of iodocholesterol. Preoperative treatment with ketoconazole lowered blood pressure ...

We describe a patient with Cushing's syndrome and metastatic small cell lung cancer. The plasma ACTH concentrations were markedly elevated (91.6 pmol/L), and the AM cortisol did not suppress by > 50% overnight after administration of 8 mg dexamethasone, both consistent with the ectopic ACTH syndrome. Immunohistochemical studies of a ...

Polyglandular syndromes have been described for many years but only one case of panhypopituitarism with adrenal and thyroid insufficiencies has been documented. We present a 69-year-old woman with the initial diagnosis of idiopathic primary hypopituitarism. An associated primary adrenal disease was suspected on low plasma aldosterone and increased plasma renin ...

A technique for the extraperitoneal removal of the adrenal gland using laparoscopic instrumentation and insufflation is described. A case of Cushing's syndrome in a 42 year old female is presented with successful removal of her adrenal tumour using the laparoscopic method. This is the first report of laparoscopic adrenalectomy employing ...

The Carney syndrome, first described in 1977, is characterized by the association of three rare tumours of different origin: gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma. The authors describe a young woman in whom gastric leiomyosarcoma, retroperitoneal paraganglioma and pulmonary chondroma developed. Radiologists should be aware of the possible ...

A patient who presents with refractory hypertension may have a curable underlying cause, such as Conn's syndrome. Because hypertension may be the only presenting sign of this disorder, a high index of suspicion is required. Detection of elevated aldosterone levels after salt loading and of abnormally suppressed plasma renin activity ...

OBJECTIVE: ACTH is secreted by the pituitary following processing of larger molecular weight precursors, proopiomelanocortin and pro-ACTH. Ectopic ACTH syndrome refers to the secretion of ACTH by non-pituitary tumours, but the predominant circulating form of proopiomelanocortin-related peptides remains unclear. PATIENTS: Fifteen patients with ectopic ACTH syndrome were compared to 20 ...

Medical management of Nelson's syndrome by drugs such as bromocriptine, sodium and magnesium valproate has provided disappointing or, at least, controversial results. We report here on the results of long-term (2 yr) treatment with the somatostatin analogue octreotide (300 micrograms daily sc) in one patient affected by Nelson's syndrome occurring ...

We present a patient with a poorly differentiated squamous cell carcinoma of the left lower lobe, who developed Cushing's syndrome. Adrenocorticotrophic hormone (ACTH) and cortisol levels in the blood were extremely elevated, but immunostaining for ACTH and corticotrophin releasing factor (CRF) of the primary tumour and metastases was negative. The ...

A case of olfactory neuroblastoma in a 36-year-old woman who presented with florid Cushing's syndrome is reported. A nasal polyp, which proved to be an olfactory neuroblastoma, was resected. The procedure was followed by complete remission from the endocrinologic abnormalities. Postoperatively, the patient was well for 5 years until recurrence ...

Inferior petrosal sinus sampling (IPSS) is used to evaluate the pituitary-dependency of Cushing's disease, and to predict the laterality of a microadenoma prior to transsphenoidal operation. A serious complication occurred in a 14-year-old boy: he suffered brain stem ischaemia with abducens nerve palsy and hemiparesis (Raymond's syndrome). The case prompted ...

A case of fulminant Cushing's syndrome due to an ectopic ACTH secretion in a patient with bilateral ovarian sex-cord stromal tumour is reported. Surgical resection of the ovaries as well as the inhibitors of steroid synthesis and cytostatics caused only transient improvement because the widespread neoplastic dissemination progressed very quickly.

PURPOSE: Posterior subcapsular cataract is a well-known complication of longstanding glucocorticoid therapy (exogenous Cushing syndrome). The purpose of this study was to examine the effect of chronic endogenous hypercortisolism (endogenous Cushing syndrome) on the human lens. METHODS: Sixty consecutive patients (8 to 67 years of age, 46 females, 14 males) ...

OBJECTIVE: Results from studies on the effect of glucocorticosteroids on protein turnover in both rat and man have been conflicting. The aim of this study was to investigate the primary cause of muscle wasting in patients with Cushing's syndrome. DESIGN: Studies of whole body 1(-14)C-leucine turnover in patients with Cushing's ...

OBJECTIVE: The aim was to determine the target range into which mean daily serum cortisol should be lowered in patients on medical therapy for Cushing's syndrome, using isotopically estimated cortisol production rates as 'gold standard'. DESIGN: Patients with Cushing's syndrome on medical treatment were given 12 ng of tritiated cortisol ...

OBJECTIVE: To examine the potential association of central serous chorioretinopathy with endogenous hypercortisolism (Cushing's syndrome). DESIGN: Ophthalmologic survey of consecutively admitted patients with endogenous Cushing's syndrome. SETTING: An eye clinic of a research center (National Eye Institute, Bethesda, Md). PATIENTS: Sixty consecutive patients with confirmed endogenous Cushing's syndrome. MAIN OUTCOME ...

Bilateral adrenal nodularity in Conn's and Cushing's syndrome leads to a more complex differential diagnosis than the presence of a unilateral mass or bilateral hyperplasia. In Conn's syndrome, bilateral nodularity is not synonymous with hyperplasia, and adrenal venous sampling is required to detect those cases of surgically correctable aldosteronoma. In ...

The radiological features of 14 patients with Cushing's syndrome due to 'occult' ectopic ACTH syndrome have been reviewed. In 11 of the 14 patients (79%), the ACTH-producing tumour was located in the thorax. Bronchial carcinoid tumours (eight patients) were the single most common source of 'occult' ectopic ACTH production with ...

Cushing's syndrome as a result of the ectopic production of adrenocorticotrophic hormone by bronchial carcinoids is a rare phenomena. The clinical course of two patients is presented in depth, and a review of the literature is provided. A discussion of various forms of therapy and an algorithm for the evaluation ...

Paraendocrine syndromes are the remote effects of cancer that result from ectopic hormonal production. Recent investigations have concentrated in five areas that include the evaluation of diagnostic studies, the recognition of rare cases, the contribution of secondary hormones, the clinical distinctions of ectopic syndromes from endocrine disorders, and the efficacy ...

A case of Cushing's syndrome is described in a woman who self-treated psoriasis with a variety of potent topical glucocorticoids over 15 years. She was successfully weaned off corticosteroids and was treated with alternative anti-psoriatic drugs. The disappearance, nine months later, of most features of Cushing's syndrome, and the normal ...

The past ten years have been particularly exciting with regard to the elucidation of the pathophysiology of PCOS. It appears that PCOS is about to yield some of its mysteries and to have some of its discrete subsets defined, as Cushing syndrome did 50 years ago. However, future studies of ...

Klinefelter syndrome is associated with the development of breast and extragonadal germ cell tumors in some patients. Leydig cell tumor in association with Klinefelter syndrome is a rare entity. We report such a case to illustrate the usefulness of MR imaging in detecting a testicular neoplasm when clinical examination and ...

This paper describes the case of a female child who presented with severe thrombocytopenia and Cushing's syndrome. The underlying cause was found to be an adrenal cortical adenoma, removal of which was followed by complete recovery of both conditions. The pathogenesis of both presenting features in relation to the adrenal ...

A 17 year old male patient with Moebius syndrome with pituitary dwarfism and unilateral hypoplastic optic disc is presented. Although there have been several reports of an association of Moebius syndrome and pituitary dysfunction, growth hormone deficiency has not been reported previously. These associations may give some insight into the ...

The clinical features of Cushing's disease in childhood are usually abnormal fat distribution, moon face, growth failure and hirsutism. Laboratory studies include evidence of cortisol and ACTH hypersecretion. This report concerns a boy who presented only with arrested puberty and growth failure as physical evidence of Cushing's syndrome and showed ...

OBJECTIVE: In patients with Cushing's syndrome, decreased growth hormone (GH) secretion is observed though the basic mechanism is unknown. In states of chronic deficiency of hypothalamic growth hormone releasing hormone (GHRH) release, a blunted GH response to exogenous GHRH has been reported; such impairment can be partially normalized by repetitive ...

Twenty patients with the typical clinical presentation of Sheehan's syndrome were studied. All had a severe degree of hypopituitarism. The circulating mean basal levels of thyroid hormones, cortisol and prolactin were significantly lower (p < 0.05 to < 0.02) compared to those in 50 age matched controls. The provoked pituitary ...

We report a case of double male syndrome, a type of Klinefelter's syndrome with 48,XXYY chromosome, associated with acromegaloidism. Although the patient presented acromegalic appearance, he did not show hypersecretion of growth hormone (GH). GH provocation tests revealed a rather low GH responses or no responses. After testosterone therapy, the ...

A male patient is reported with benign intracranial hypertension, who presented with three periods of partial pituitary deficiency, corresponding to episodes of headaches and papilledema. No radiological signs of the empty sella syndrome were observed. Since benign intracranial hypertension has been implicated in the development of the empty sella syndrome, ...

Familial Cushing's syndrome is rare, and when it occurs, it is usually associated with primary micronodular dysplasia. We report two cases, a mother and daughter, who each presented with clinical features of Cushing's syndrome at age 38 yr and were found to have ACTH-independent macronodular adrenal hyperplasia. In each case, ...

When patients with the usually clinically silent primary empty sella syndrome become symptomatic through visual field defects or hormonal deficits the condition was frequently treated by a transsphenoidal intradural procedure with a risk of consecutive CSF leak or meningitis. We present 3 cases in which we performed a transsphenoidal extradural ...

A unilateral adrenal tumour was incidentally detected in a 39-year-old woman with no characteristic features of Cushing's syndrome. Basal levels of glucocorticoids were within normal limits. However, abnormal pattern of plasma cortisol and ACTH was observed. The dexamethasone suppression test and the metyrapone test showed also abnormal response. Adrenocortical scintigram ...

A 23-year-old male patient revealed hypercortisolism with stigmata of Cushing's syndrome, and post-operative pathological examination demonstrated primary adrenal nodular dysplasia. Because of the presence of cardiac myxomas and skin pigmentation, the diagnosis of Carney's complex was given. After the control of hypercortisolism by adrenalectomy, the patient experienced iridocyclitis and bilateral ...

We report a 54-year-old Chinese man with Cushing's syndrome from bilateral adrenal adenomata in whom surgery was contraindicated because of his intercurrent medical conditions. Instead, he was successfully treated with aminoglutethimide 0.75 gm/day (which reduced his 24-hour urinary free cortisol from 628 nmol/day to 177 nmol/day in 4 weeks), followed ...

The most common ectopic production of a pituitary hormone is the one of ACTH leading to Cushing's syndrome. Ectopic ACTH-hypersecretion is the cause of Cushing's syndrome in 10-15% of all cases. The ACTH-secreting tumours are often oat-cell carcinomas of the lung, less frequently pancreatic cancers, hypernephromas, or C-cell carcinomas of ...

Procedures were carried out in a 12-year-old girl to relate Ewing's sarcoma of the left tibia with Cushing's syndrome. Computed tomography revealed a normal pituitary and hypothalamus but bilateral adrenal hyperplasia without focal enlargement, thus readily excluding hypothalamic-pituitary-adrenal tumor. Negative results from a high-dose dexamethasone suppression test do not support ...

Treatment with Sandostatin is established in acromegaly, thyroid-stimulating hormone (TSH)-producing pituitary, and endocrine-active gastroenteropancreatic tumors. Potential indications include ectopic hormone syndromes, medullary thyroid carcinomas, pituitary resistance to thyroid hormones, tall stature children, diabetes mellitus and diabetic complications, polycystic ovary syndrome, and Graves' ophthalmopathy. Particularly in the ectopic growth hormone-releasing hormone ...

The empty sella syndrome has become a rather frequent finding in magnetic resonance imaging (MRI) scanning. The usual presentation of empty sella syndrome involves an incidental finding on a computed tomography scan or an MRI scan. It is unusual to find empty sella syndrome associated with hypopituitarism. The authors describe ...

OBJECTIVE: To report a case of thyroid storm that developed in a child with McCune-Albright syndrome after orthopedic surgery. The development of thyroid storm has not previously been described after surgery in a child. DESIGN: Descriptive case report. SETTING: Pediatric intensive care unit. PARTICIPANT: Patient with McCune-Albright syndrome who developed ...

A 24 year old woman with Gardner's syndrome developed a massive chest wall desmoid tumour, which required radical excision and prosthetic reconstruction. In view of the local aggressiveness of this tumour and the fact that it does not metastasize a policy of radical surgery when possible is recommended.

We evaluated the usefulness of the basal urinary 24-h excretion rates of free cortisol versus 17-hydroxycorticosteroids in the diagnosis of Cushing's syndrome. On an outpatient basis, both urinary free cortisol and 17-hydroxycorticosteroids levels were determined in 48 patients with Cushing's syndrome, as well as in 95 obese and 94 healthy ...

Three patients with Cushing syndrome due to ectopic production of corticotropin underwent total thymectomy on the basis of elevated concentrations of corticotropin in selective samples from thymic veins but in the absence of a radiographically detectible thymic mass. In one patient, radiologic examination demonstrated hyperplasia of neuroendocrine cells staining positively ...

The hypothesis that cortisol is the functioning mineralocorticoid in the syndrome of apparent mineralocorticoid excess was tested by suppressing its secretion with dexamethasone. The subjects were two siblings with the type 2 form of this syndrome in which the defect in the peripheral metabolism of cortisol lies predominantly in ring ...