Edit concept Question Editor Create issue ticket

Cushing Syndrome due to Macronodular Adrenal Hyperplasia

Primary Macronodular Adrenal Hyperplasia


Presentation

  • 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]
  • Clinical case: A 70 years old female admitted due to femoral neck fracture in May 2014, presented central obesity, rubeosis and hypertension.[endocrine-abstracts.org]
Fatigue
  • 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]
  • These increased cortisol levels lead to weight gain in the face and upper body, fragile skin, bone loss, fatigue, and other health problems.[ghr.nlm.nih.gov]
  • Symptoms also include fatigue, weakness, depression, mood swings, increased thirst and urination, and lack of menstrual periods in women.[nadf.us]
  • […] other types of Cushing syndrome) Periods that become irregular or stop Men may have: Decreased or no desire for sex (low libido) Erection problems Other symptoms that may occur include: Mental changes, such as depression, anxiety, or changes in behavior Fatigue[medlineplus.gov]
  • Case 3 An 80-year-old Japanese woman was hospitalized because of unusual weight gain (about 10kg over about two years) and general fatigue. Upon admission, she was diagnosed as Cushing’s syndrome.[jmedicalcasereports.biomedcentral.com]
Cushingoid
  • 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]
  • 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]
  • 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]
Camping
  • Research suggests that the overactive G protein may increase levels of adenylate cyclase and result in the overproduction of another compound called cyclic AMP (cAMP).[ghr.nlm.nih.gov]
  • Most forms of BAH are linked to increased cAMP signaling. We report the case of an infant with MAS who had BAH.[hormones.gr]
  • BMAH の様々な形態において、cAMP/PKA パスウェイの活性の増大が見られる。cAMP/PKA シグナル伝達パスウェイの構成要素や、adenomatous polyposis coli gene (APC)、menin (MEN1) および fumarate hydratase (FH) を含む遺伝性家族性腫瘍症候群を引き起こす遺伝子が、BMAH の進展に関係することがある。[genome.jp]
  • Further molecular studies focused on cAMP/PKA pathway-related genes will therefore be useful to characterize the molecular defects involved in the patient’s disease.[academic.oup.com]
  • Slieker LJ, Sloop KW, Surface PL, Kriauciunas A, LaQuier F, Manetta J, Bue-Valleskey J, Stephens TW: Regulation of expression of ob mRNA and protein by glucocorticoids and cAMP. J Biol Chem 1996;271:5301–5304.[karger.com]
Inflammation
  • Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels.[ghr.nlm.nih.gov]
  • It mobilizes nutrients, modifies the body’s response to inflammation, stimulates the liver to raise the blood sugar, and it helps control the amount of water in the body.[nadf.us]
  • Histopathologic examination of the adrenal gland of a patient with idiopathic Addison's disease shows diffuse lymphocytic inflammation in the cortex, with selective destruction of the steroid-producing epithelial cells and sparing of the medulla.[glowm.com]
Fever
  • […] who but for the cognitive powers of the endocrinologist would have ultimately succumbed, undiagnosed; the virilized female with adrenal tumor and its attendant onslaught on the body and mind; the febrile patient with pheochromocytoma masquerading as fever[books.google.com]
Bilateral Proptosis
  • A 52-year-old Chinese woman with progressively worsening bilateral proptosis presented to our hospital. Subsequently she was diagnosed as having primary bilateral macronodular adrenal hyperplasia and underwent bilateral laparoscopic adrenalectomy.[ncbi.nlm.nih.gov]
Suggestibility
  • Familial clustering of PMAH has been described, suggesting an inherited genetic cause for this condition. The aim of the present study was to identify the gene responsible for familial PMAH.[ncbi.nlm.nih.gov]
  • Since ARMC5, a tumoral supressor gene, is expressed in many organs and recent findings suggest an association of BMAH and meningeoma, a watchful follow-up is required.[endocrine-abstracts.org]
  • They suggested that the second somatic mutation contributes to the formation of larger nodules and glucocorticoid excess.[medpagetoday.com]
  • Research suggests that the overactive G protein may increase levels of adenylate cyclase and result in the overproduction of another compound called cyclic AMP (cAMP).[ghr.nlm.nih.gov]
  • This suggested that ARMC5 plays a significant role in cell death.[2minutemedicine.com]
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. Images of these physical findings can be seen at .[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]

Workup

  • […] 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]
Candida
  • Livia MM, Tania LM, Solange G, Maria Candida BVF, Isabelle B, Andre L. Review Articles : ACTH-Independent Macronodular Adrenal Hyperplasia. Endocrinol Metab 2011; 26:1–11. Abdominal computed tomography (CT).[ekjm.org]
  • Immunosuppression resulting from corticosteroid excess is usually thought of as a cellular immune deficiency 11 that increases the risk of opportunistic infections ( Cryptococcus neoformans, Candida species, Norcardia species and other organisms).[aafp.org]
Adrenocortical Hyperplasia
  • Cushing's syndrome due to autonomous macronodular adrenal hyperplasia: long-term follow-up after unilateral adrenalectomy Abstract This report describes a case of Cushing's syndrome due to autonomous macronodular adrenocortical hyperplasia in which unilateral[pmj.bmj.com]
  • Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab. 2003 May;88(5):2147-51.[ghr.nlm.nih.gov]
  • Macronodular adrenocortical hyperplasia in long standing Cushing’s disease. J. Clin. Endocrinol. Metab. 58: 25–31, 1984. PubMed CrossRef Google Scholar 13.[link.springer.com]
  • hyperplasia (AIMAH) : rare cause of ACTH-independent Cushing syndrome 4 corticotropin-releasing hormone-secreting tumor: very rare hypothalamic tumors ectopic production The workup of Cushing syndrome requires measurement both of cortisol as well as[radiopaedia.org]
  • Smals AG, Pieters GF, van Haelst UJ, Kloppenborg PW: Macronodular adrenocortical hyperplasia in long-standing Cushing’s disease. J Clin Endocrinol Metab 1984;58:25–31.[karger.com]

Treatment

  • 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]
  • 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]
  • 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]

Prognosis

  • 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]

Etiology

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

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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

  • 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]
  • 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]
  • Our observations also suggest that these low doses may have prevented adrenal overgrowth.[edmcasereports.com]
  • The development of specific aberrant receptor and corticotropin-receptor antagonists could be an avenue of therapy for hypercortisolism, eliminate the need for bilateral adrenalectomy, and prevent disease progression in genetically affected family members[medpagetoday.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!