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Results for “Cushing Syndrome”

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At least 19 recordsLinked to original sources
PubMed2024

Molecular characterization of archival adrenal tumor tissue from patients with ACTH-independent Cushing syndrome.

Cushing syndrome represents a multitude of signs and symptoms associated with long-term and excessive exposure to glucocorticoids. Solitary cortisol-producing adenomas (CPAs) account for most cases of ACTH-independent Cushing syndrome (CS). Technological advances in next-generation sequencing have significantly increased our understanding about the genetic landscape of CPAs. However, the conventional approach utilizes fresh/frozen tissue samples, which are not routinely available for most clinical adrenal adenoma specimens. This coupled with the fact that CS is relatively rare reduces the accessibility to CPAs for research. In order to circumvent this issue, our group recently developed a sequencing strategy that allowed the use of formalin-fixed paraffin-embedded (FFPE) CPA samples for mutation analysis. Our streamlined approach includes the visualization and genomic DNA (gDNA) capture of the cortisol-producing regions in the tumor using immunohistochemistry (IHC)-guided techniques followed by targeted and/or whole-exome sequencing analysis. This approach has the advantage of using both prospective and retrospective CPA cohorts since FFPE pathologic specimens are routinely banked. This review discusses this advanced approach using IHC-guided gDNA capture of pathologic tissue followed by NGS as a preferred method for mutational analysis of CPAs.

Humans↗
PubMed1975

Cortisol secretion in Nelson syndrome: Persistence after "total" adrenalectomy for Cushing syndrome.

In two patients who were severely pigmented (Nelson syndrome) following bilateral adrenalectomy for Cushing syndrome, symptoms of hyper-cortisolism developed while they were receiving only physiologic steroid replacement. Cortical assays proved that endogenous cortisol production had not been obliterated. Even after total adrenalectomy, steroid measurement should be performed to guard against adrenocortical excess.

17-Hydroxycorticosteroids↗
PubMed1977

Sudden onset of unilateral third nerve paresis in a patient with Cushing syndrome.

Extraocular muscle pareses in patients with Cushing syndrome are virtually always associated with a greatly enlarged pituitary tumor and with advancement on oculomotor nerves. The present report concerns a patient with a rapidly progressive adrenocorticotropic hormone (ACTH)-dependent hyperadrenocorticism and sudden onset of an unilateral third nerve paresis. The patient had no demonstrable pituitary tumor. After a total adrenalectomy and correction of hyperadrenocortisolism, his third nerve paresis subsided. Ocular paresis may occur in a patient with Cushing syndrome even in the absence of mechanical involvement of ocular nerves by a pituitary tumor.

17-Hydroxycorticosteroids↗
PubMedDate not supplied

[Gonadotropic function in female Cushing syndrome (author's transl)].

A study of 38 female Cushing syndromes showed decreased levels of FSH and LH, with normal LH-RH stimulation in most adrenal hyperplasia and benign adenoma, and absent stimulation in carcinoma. The levels were normalized by suppression of hypercorticism. This suggests a blunted gonadotropic function, in female Cushing syndrome, probably at the hypothalamic level. The predominant respective roles of hyperandrogeny in carcinoma and of hypercortisolism in adrenal hyperplasia and benign adenoma seem probable.

Adenoma↗
PubMed1975

Cushing syndrome, sexual precocity, and polyostotic fibrous dysplasia (Albright syndrome) in infancy.

The sexual precocity of polyostotic fibrous dysplasia is occasionally accompanied by other endocrine disorders, but in only two previous instances has Cushing syndrome been reported. The history of a 6-month-old girl is presented, in whom this syndrome was complicated by congenital Cushings syndrome. Although endocrinopathies of polyostotic fibrous dysplasia have usually been ascribed to a central (hypothalamic) origin, the findings in this patient suggest autonomous hyperfunction of the peripheral endocrine glands, with the Cushing syndrome caused by hyperplastic nodules in the adrenal glands and the precocity by luteinized follicular cysts of the ovary.

Adrenal Glands↗
PubMed1978

Spontaneous remission of Cushing syndrome after termination of pregnancy.

A 27-year-old women developed Cushing syndrome during pregnancy. The course of pregnancy was characterized by abnormally low urine and plasma estrogen levels despite the presence of a living fetus. The signs and symptoms of Cushing syndrome disappeared spontaneously within 2 months after delivery. Hormonal studies, however, suggested the presence of an adrenal tumor. An adrenocortical adenoma was found at surgery and removed.

Adenoma↗
PubMed1979

'Not Cushing's syndrome'.

Cushing's syndrome is characterized by protein wasting secondary to hypergluconeogenesis, which produces thin skin, poor muscle tone, osteoporosis and capillary fragility. These features distinguish patients with true Cushing's syndrome from those who have some of the clinical findings often associated with the syndrome, such as obesity, hypertension, striae and hirsutism. The dexamethasone suppression test helps identify patients with pseudo-Cushing's syndrome.

Adolescent↗
PubMed1979

The Cushing syndromes: changing views of diagnosis and treatment.

Cushing's syndrome is the common clinical presentation of three unique disorders that give rise to hypercortisolism. In most cases neoplasms underly each of these disorders. Clinical features are highly variable and not accounted for by cortisol alone; indeed, the multihormonal basis for much of the clinical syndrome remains uncertain. Demonstration of sustained, excessive cortisol production is essential and depends on a pattern of repeated measurements and several different procedures. Plasma adrenocorticotropin, although not helpful in establishing the diagnosis, has proved valuable in differentiating the three major entities that cause hypercortisolism. The renewed significance of pituitary microadenomas and their improved detection by sella tomography has accompanied recent, impressive advances in transsphenoidal microsurgery. This may become the preferred treatment for pituitary Cushing's syndrome in the adult, particularly where the appropriate equipment and skills are available; for children, external pituitary irradiation seems to offer safe and effective therapy.

Adolescent↗
PubMed1978

Familial Cushing's syndrome.

Cushing's syndrome has been demonstrated in four of seven siblings with clinical manifestations appearing around puberty in three of the four siblings. The only other associated findings in these cases were short stature and disturbed carbohydrate metabolism. Adenomatous hyperplasia of the adrenal glands was demonstrated in 3 of the patients, and a virilizing adrenal carcinoma in the fourth sibling. The pathogenesis of the adrenocortical disorders in these siblings is discussed.

Adolescent↗