Clinical description Although the majority of cases are diagnosed in the 2nd and 3rd decades of life, a substantial proportion of patients present during early childhood (2-3 years). [orpha.net]

1 Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience. ( 30875328 ) 2019 2 Familial Forms of Cushing Syndrome in Primary Pigmented Nodular Adrenocortical Disease Presenting with Short Stature and Insidious Symptoms: A Clinical [malacards.org]

Her lung and heart auscultation were normal and she presented heart rate of 78 beats/min and arterial blood pressure of 130 x 80 mmHg. Her abdomen was painless, without any palpable masses, and presented purple stretch marks. [scielo.br]

Abstract Title Primary Pigmented Nodular Adrenocortical Disease: A Rare Condition of Cushing's Syndrome Presenter Name Sameer Prakash Presenter/Author(s) Information Sameer Prakash MS-2, University of North Texas Health Science Center at Fort Worth Follow [digitalcommons.hsc.unt.edu]

In adolescents and children with PPNAD, the disease frequently presents with periodic CS in which normal cortisol production is interrupted by days or weeks of hypercortisolism. [rarediseases.info.nih.gov]

Further workup was consistent with primary pigmented nodular adrenal disease (PPNAD) without evidence of Carney Complex. A bilateral adrenalectomy was performed and the patient maintained on oral adrenal hormone replacement therapy. [digitalcommons.hsc.unt.edu]

Management and treatment Bilateral adrenalectomy is the most common treatment for CS due to PPNAD followed by life-long cortisol and mineralocorticoid supplementation. Prognosis Without treatment, CS due to PPNAD can be life-threatening. [orpha.net]

Jiangyuan1,PAN Changyu1,DOU Jingtao1*(1Dept of Endocrinology,General Hospital of PLA,Beijing 100853,China;2Dept of Endocrinology,People's Hospital of Xuanhua County) Objective To investigate the clinical features,results of assisted examination and treatment [en.cnki.com.cn]

Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

The treatment of choice in CS due to PPNAD is bilateral adrenalectomy. [jmedicalcasereports.biomedcentral.com]

Determine the prognosis for carriers and affected individuals. Provide sufficient data for genetic counseling of families with PPNAD and/or Carney Complex. [clinicaltrials.gov]

Prognosis Without treatment, CS due to PPNAD can be life-threatening. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis Without treatment, CS due to PPNAD can be life-threatening. Last updated: 9/1/2012 [rarediseases.info.nih.gov]

MRI T1 lower signal intensity than surrounding atrophic adrenal tissue signal drop out demonstrated on out-of-phase imaging T2: lower signal intensity than surrounding atrophic adrenal tissue Treatment and prognosis The treatment of choice is bilateral [radiopaedia.org]

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

To further determine the etiology of Cushing’s syndrome and localize the source of excess glucocorticoids production, additional studies were performed. [digitalcommons.hsc.unt.edu]

Etiology More than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex (CNC; see this term). Although rare, familial cases of isolated PPNAD have also been reported. [orpha.net]

After this study, high dose dexamethasone suppression test was done to differentiate the etiology of Cushing’s syndrome. The levels of plasma cortisol were not suppressed and plasma ACTH level was very low. [kjim.org]

(See Pathophysiology and Etiology.) [emedicine.medscape.com]

Summary Epidemiology The prevalence of endogenous Cushing syndrome (CS; see this term) is estimated at 1/26,000. PPNAD is responsible for less than 2% of cases. PPNAD is more frequent in females, especially after puberty. [orpha.net]

Epidemiology The prevalence of endogenous Cushing syndrome (CS; see this term) is estimated at 1/26,000. PPNAD is responsible for less than 2% of cases. PPNAD is more frequent in females, especially after puberty. [rarediseases.info.nih.gov]

Diagnostic criteria have generally been derived from studies of adult patients despite significant differences in both the physiology of the hypothalamic-pituitary-adrenal axis and the epidemiology of Cushing syndrome in childhood. [pediatrics.aappublications.org]

(See Epidemiology and DDx.) While myxomas are usually sporadic, several familial, autosomal dominant conditions that combine lentiginosis and cardiac myxomas have been described. [emedicine.medscape.com]

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]

Molecular studies of the tumors of the patients will provide additional clues for the pathophysiologic mechanisms leading to PPNAD/Carney complex. [clinicaltrials.gov]

Groussin L, Cazabat L, Rene-Corail F, Jullian E, Bertherat J (2005) Adrenal pathophysiology: lessons from the Carney complex. Horm Res 64(3):132–139 PubMed CrossRef Google Scholar 5. [link.springer.com]

C.A. 2003 47 Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology [malacards.org]

Related Articles Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology [cushings-help.com]

(See Pathophysiology and Etiology.) [emedicine.medscape.com]

A paradoxical rise of urinary free cortisol (UFC) in response to dexamethasone is an early and specific laboratory marker of the disorder, allowing timely bilateral adrenalectomy which may not only prevent severe complications of hypercortisolism, but [jofem.org]

There is some evidence suggesting that statins can prevent osteonecrosis, but it is of note that our patient was never exposed to such treatment ( 19 ). [edmcasereports.com]

Women with Carney complex may be at a high risk for recurrent atrial myxomas that lead to multiple strokes. [22] Early identification of a female patient with Carney complex may facilitate stroke prevention. [emedicine.medscape.com]

Although ACTH levels tend to be higher in ectopic production, there is significant overlap that prevents use of ACTH alone to distinguish between the conditions (2). [path.upmc.edu]

The curative rate of PPNAD was about 30% by unilateral adrenalectomy, 60% by sub-total adrenalectomy, and nearly 100% by total adrenalectomy. 9 The Nelson syndrome could be prevented by routine dosage of adrenocor- ticosteroid replacement. 10 One case [124.205.33.103]