In the second case, the patient with clinical Cushing's syndrome presented anomalous cortisol response to standing, whose potential medical treatment would be the use of beta-blockers. [ncbi.nlm.nih.gov]

Clinical description The disease presents a bimodal age distribution with a rare subset presenting in the first years of life, particularly associated to McCune-Albright syndrome (MAS; see this term). [orpha.net]

Still, repeated testing of blood cells did not show the presence of the causative GNAS mutation; on the other hand, the defect was present in both adrenal glands. [hormones.gr]

• Cushingoid

  Before surgery, the patient with cushingoid symptoms should have special management to control hypertension, edema, diabetes, and cardiovascular manifestations and to prevent infection. [checkorphan.org]

  A long term treatment with 320 mg/d propranolol allowed sustained normalization of cortisol secretion and progressive disappearance of Cushingoid features but after 8 months the patient complained of Raynaud's syndrome and fatigue. [ladaf.fr]

  Her face appeared Cushingoid with periorbital swelling and rubor. Her thyroid was palpable without nodularity. Her abdominal exam revealed visible superficial veins but no striae. [healio.com]

  The importance of recognizing this diagnosis, as a separate condition, is to identify the necessity for bilateral adrenalectomy to cure the cushingoid symptoms. [kjim.org]

  However, our patient presented constantly normal urine free cortisol and plasma ACTH during treatment, never developed a cushingoid appearance and showed a stable or an improved BMD. [edmcasereports.com]

• Plethora

  Easy bruising, facial plethora and proximal myopathy are the most sensitive features of Cushing’s syndrome. [clinicaladvisor.com]

  Any sign or symptom of cortisol excess can develop initially, but muscle weakness, bruising, hypertension, facial rounding and plethora eventually occur. [aafp.org]

  Facial fullness, moon facies, facial plethora. Proximal muscle wasting and weakness. Diabetes or impaired glucose tolerance. Gonadal dysfunction, reduced libido. Hypertension. Nephrolithiasis. [patient.info]

   Signs and Symptoms  Central obesity with Facial rounding with plethora Increased supraclavicular and dorsocervical fat Cutaneous wasting with ecchymoses Wide violaceous striae (>1 cm) Proximal myopathy Increased lanugo hair Superficial fungal infections [slideshare.net]

  Physical examination revealed persistent tachycardia with systolic murmur 3/6, pigmented lesions on head, trunk and extremities, with predilection on the left side, facial plethora and other signs of CS (Figure 1A). [hormones.gr]

• Abdominal Obesity

  Physical exam revealed satisfactory general state, abdominal obesity, normal muscle mass and strength, normal thyroid as well as normal 15-20 ml testicles. He showed no specific signs of Cushing's syndrome or those of any other hormonal dysfunction. [postertalks.com]

• Polydipsia

  Thirst, polydipsia, polyuria. Impaired immune function: increased infections, difficulty with wound healing. Child: growth restriction. Patients with an ACTH-producing pituitary tumour may develop headaches, visual problems and galactorrhoea. [patient.info]

• Thin Skin

  Skin infections Purple stretch marks (1/2 inch or 1 centimeter or more wide), called striae, on the skin of the abdomen, thighs, upper arms, and breasts Thin skin with easy bruising Muscle and bone changes include: Backache, which occurs with routine [medlineplus.gov]

  Protein catabolism (glucocorticoid excess) Muscle wasting, weakness (steroid myopathy); thinned skin, capillary fragility. [cushings-help.com]

  The inhibition of collagen synthesis in the skin produces thin skin which bruises easily and features red-purple striae on the abdomen. Hypertension is common. [histocutup.co.uk]

  • ‘Buffalo hump’ • High blood pressure • High blood sugar • Muscle weakness • Osteoporosis/Fractures • Infections • Blood clots • Visual field defects • Easy bruising • Thinning skin • Poor wound healing • Acne • Purple striae • Hirsutism • Female balding [slideshare.net]

• Myopathy

  […] features 6 : rounded face, sometimes described as 'moon-shaped' progressive centripetal obesity and weight gain prominent supraclavicular fat pad, sometimes known as a 'buffalo hump' purple skin striae easy skin bruising acanthosis nigricans proximal myopathy [radiopaedia.org]

  myopathy are the most sensitive features of Cushing’s syndrome. [clinicaladvisor.com]

  The muscle wasting is sufficiently frequent to produce a myopathy and weakness. The weakness particularly affects the proximal muscles and can present as difficulty in climbing stairs. [histocutup.co.uk]

  Protein catabolism (glucocorticoid excess) Muscle wasting, weakness (steroid myopathy); thinned skin, capillary fragility. [cushings-help.com]

   Signs and Symptoms  Central obesity with Facial rounding with plethora Increased supraclavicular and dorsocervical fat Cutaneous wasting with ecchymoses Wide violaceous striae (>1 cm) Proximal myopathy Increased lanugo hair Superficial fungal infections [slideshare.net]

• Proximal Muscle Weakness

  View/Print Table TABLE 1 Clinical Features of Cushing's Syndrome Sudden weight gain Central obesity Hypertension Facial plethora Proximal muscle weakness Glucose intolerance or diabetes mellitus Decreased libido or impotence Depression or psychosis Osteopenia [aafp.org]

  Classical Cushing Syndrome  Many of the classic symptoms of hypercortisolism, such as central obesity, moon faces, buffalo hump, proximal muscle weakness, easy bruisability, and abdominal striae, are non-specific.  Cushing syndrome also results in systemic [slideshare.net]

• Round Face

  Typically, patients have the following clinical features 6 : rounded face, sometimes described as 'moon-shaped' progressive centripetal obesity and weight gain prominent supraclavicular fat pad, sometimes known as a 'buffalo hump' purple skin striae easy [radiopaedia.org]

  face and abdomen with high blood pressure and high blood sugar. [nadf.us]

  Symptoms can include weight gain, obesity, a rounded face, thin purple streaks (purple striae) which occur on the skin, increased fat around the neck, and slender arms and legs. [rarediseases.org]

  Classic clinical features include central obesity and rounded face, 'buffalo hump' caused by fat deposit on the posterior neck, purple skin striae, and thinned extremities due to muscle atrophy. [path.upmc.edu]

  Clinical Features  90 – 100 %  Central obesity  Rounded face (“moon face”)  Facial plethora  Decreased libido  70 - 90 %  Purple striae  Menstrual disturbances  Hirsutism  Erectile dysfunction  Hypertension  50 - 70 %  Muscle weakness  Posterior [slideshare.net]

[…] ovarian tumors adrenocorticotropin (ACTH)-independent macronodular adrenocortical hyperplasia (AIMAH) : rare cause of ACTH-independent Cushing syndrome 4 corticotropin-releasing hormone-secreting tumor: very rare hypothalamic tumors ectopic production The workup [radiopaedia.org]

A low threshold for initiating a hypercortisolism workup should exist in these men with libido or erectile problems, low testosterone, and low gonadotropin levels.  Up to 50% of patients with Cushing syndrome exhibit urolithiasis; therefore stone formers [slideshare.net]

Unilateral macronodular adrenal hyperplasia; Adrenalectomy Introduction In its overt expression Cushing’s syndrome is usually easily recognized but more subtle forms can represent a significant challenge for physicians, frequently missed in the diagnostic workup [omicsonline.org]

• Dyslipidemia

  His blood pressure was adequately controlled with ACE inhibitors and diuretics and he had no diabetes or dyslipidemia. [postertalks.com]

  Symptom Prevalence in All CS patients Hypertension 58-85% Obesity 32-41% Diabetes mellitus 50-81% Major depression 31-50% Osteoporosis 31-50% Dyslipidemia 38-71% Source: Feelders et al. 2012 87 Treatment The therapeutic goal is to normalize tissue exposure [endocrinefacts.org]

   Cushing syndrome also results in systemic symptomatology, such as central obesity, dyslipidemia, insulin resistance, and hypertension, that is identical to the highly-prevalent metabolic syndrome  Relatively common occurrence of hypogonadal hypogonadism [slideshare.net]

• Cortisol Increased

  night salivary cortisol: increased or within normal range; consistently increased night UFC (10 to 11 p.m.); normal urinary metanephrines; Aldosterone / PRA: indicative of secondary aldosteronism; mild hyperprolactinemia; pronounced secondary hypogonadism [postertalks.com]

  […] lack of dexamethasone suppression. 154 Significantly, estrogen therapy may increase cortisol binding and hence elevate total plasma cortisol values, thereby falsely suggesting a lack of dexamethasone suppression. [glowm.com]

• Lymphopenia

  Hematologic manifestations include mild erythrocytosis, granulocytosis, lymphopenia, and eosinopenia. [glowm.com]

In conclusion, a 3-day propranolol test may identify patients with AIMAH who can benefit from a long term beta-blocker treatment. [ladaf.fr]

Management and treatment Treatment can be medical if aberrant adrenal receptors are identified and can be blocked (i.e. with propranolol, somatostatin or GnRH analogs). [orpha.net]

In the second case, the patient with clinical Cushing's syndrome presented anomalous cortisol response to standing, whose potential medical treatment would be the use of beta-blockers. [ncbi.nlm.nih.gov]

Additionally, a range of conditions that represent challenges for the diagnosis and treatment--such as renal failure, pediatric age, cyclic hypercortisolism, and pregnancy--are covered in detail. [books.google.com]

Surgical/radiation treatments for Cushing’s syndrome and Cushing’s disease. [endocrinefacts.org]

Prognosis Prognosis after treatment is good but quality of life may be affected due to the long-term effects of hypercortisolemia. Without treatment the disease is life-threatening as in the case of manifest hypercortisolism. [orpha.net]

Prognosis - Cushing's syndrome- familial Not supplied. Treatment - Cushing's syndrome- familial Treatment to restore hormone balance and reverse Cushing’s syndrome may necessitate radiation, drug therapy, or surgery. [checkorphan.org]

Treatment and prognosis Management depends on the specific etiology 6. [radiopaedia.org]

[…] children, tumors are usually pheochromocytoma, neuroblastoma, thymic or pancreatic endocrine neoplasm Associated with hypokalemic alkalosis, high urinary excretion of free cortisol, skin pigmentation, edema and severe diabetes mellitus Usually poor prognosis [pathologyoutlines.com]

The prognosis is guardedly favourable with surgery. The rare adrenocortical carcinomas have a five-year survival rate of 30% or less. [patient.info]

This etiological variant of ACTH-independent Cushing's syndrome leads to the use of specific pharmacologic therapies in some cases as alternatives to adrenalectomy. [ncbi.nlm.nih.gov]

Etiology The exact etiology is unknown but the adrenal overgrowth seen in AIMAH may be due to the expression of aberrant membrane receptors found in the adrenal cortex that regulate cortisol secretion and which are stimulated by gastric inhibitory polypeptide [orpha.net]

Treatment and prognosis Management depends on the specific etiology 6. [radiopaedia.org]

It also provides state-of-the-art information on various strategies to establish the diagnosis of Cushing’s syndrome and the differential diagnosis among its diverse etiologies, as well as therapeutic approaches. [books.google.com]

[…] granular to homogenous, due to accumulation of intermediate filaments Adrenal gland changes: exogenous cortisol causes low ACTH, which causes atrophy of fasciculata and reticularis, not glomerulosa, in residual or opposite adrenal gland Pathophysiology / etiology [pathologyoutlines.com]

We summarize the recent insights concerning its epidemiology, diagnosis, genetics, pathophysiology, and therapeutic options. [ncbi.nlm.nih.gov]

Summary Epidemiology Prevalence of endogenous CS is estimated at 1/26,000 and AIMAH represents less than 1% of the cases. [orpha.net]

Adenomas tend to present between the ages of 30 and 40 years and are more common in women whereas carcinomas have their peak incidence later and exhibit no gender predilection (however these epidemiological features are of no diagnostic use in an individual [histocutup.co.uk]

In patients with a benign adrenal adenoma, SMR=1.90. * Graversen et al. 2012 64 Spain, N=49, 1975-1992 Epidemiological study Overall, SMR=3.8. [endocrinefacts.org]

Epidemiology [ 1 ] Incidence of Cushing's syndrome is in the region of 10 to 15 people per million, with a higher incidence in people with diabetes, obesity, hypertension or osteoporosis. [ 4 ] In obese patients with type 2 diabetes, especially those [patient.info]

Cushing’s Syndrome: Pathophysiology, Diagnosis and Treatment reviews the difficulties in distinguishing Cushing’s syndrome from these and other common conditions, such as central obesity, menstrual irregularity and depression. [books.google.com]

We summarize the recent insights concerning its epidemiology, diagnosis, genetics, pathophysiology, and therapeutic options. [ncbi.nlm.nih.gov]

Finally, we propose possible pathophysiologic mechanisms to explain the development of gynecomastia in men with Cushing's disease. (C) Lippincott-Raven Publishers. [journals.lww.com]

Prevention - Cushing's syndrome- familial Not supplied. [checkorphan.org]

Knowing this means that researchers might be able to develop drugs that interrupt the receptors for these hormones and possibly even prevent the benign tissue from developing in the first place. [sciencedaily.com]

This gene provides instructions for making a protein that is thought to act as a tumor suppressor, which means that it helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. [ghr.nlm.nih.gov]

Our observations also suggest that these low doses may have prevented adrenal overgrowth. [edmcasereports.com]

Patients who are prescribed physiological replacement need to know that additional doses are required during acute illnesses/stress to prevent serious problems such as low blood sugar level or a drop in blood pressure. 53. [slideshare.net]