Primary macronodular adrenal hyperplasia (PMAH) can be generated by a new <i>ARMC5</i> germline variant (c.52C>T (p.Gln18X))
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چکیده
منابع مشابه
Genetics of primary macronodular adrenal hyperplasia.
ACTH-independent macronodular adrenal hyperplasia is a rare cause of Cushing's syndrome (CS), accounting for <2% of all endogenous CS cases; however it is more frequently identified incidentally with sub-clinical cortisol secretion. Recently, cortisol secretion has been shown to be regulated by ectopic corticotropin, which is in turn produced by clusters of steroidogenic cells of the hyperplast...
متن کاملACTH-independent macronodular adrenal hyperplasia.
Adrenocorticotropic hormone- (ACTH-)independent macronodular adrenal hyperplasia (AIMAH) is an infrequent cause of Cushing's syndrome (CS). AIMAH presents as incidental radiological finding or with subclinical or overt CS, occasionally with secretion of mineralocorticoids or sex steroids. The pathophysiology of this entity is heterogeneous. The aberrant adrenal expression and function of one or...
متن کاملAdrenocorticotropic hormone independent macronodular adrenal hyperplasia.
1 of 2 DESCRIPTION Figure 1 is of a CT scan showing bilateral macronodular adrenal glands in a patient with adrenocorticotropic hormone-independent macronodular adrenal hyperplasia (AIMAH). AIMAH was fi rst described in 1964 1 . AIMAH is often discovered as a fortuitous radiological fi nding, as in our patient, or during investigation for endogenous hypercortisolism. AIMAH represents less than ...
متن کاملA Case of Adrenocorticotropin -Independent Macronodular Adrenal Hyperplasia (AIMAH)- A Case Report
The case-report is about a 47 year old woman with adrenocorticotropin-independent macronudular adrenal hyperplasia (AIMAH), with is a rare cause of endogenous Cushing’s syndrome. Urin free cortisol (UFC) and cortisol of 8AM were elevated along with the suppressed level of ACTH. Abdominal CT scan showed macronodules in both adrenals .The patient underwent left adrenalectomy and pathological dat...
متن کاملAdrenocorticotropin-Independnt Bilateral Adrenal Macronodular Hyperplasia (AIMAH) A Case Report
Background ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing's syndrome (CS), which is characterized by massive bilateral nodular enlargement of adrenal glands and hypercortisolism in the presence of suppressed ACTH levels. Case A 53 year-old woman with a 5-year history of hypertension was referred to our hospital for further evaluation of bilateral adrenal tu...
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ژورنال
عنوان ژورنال: Endocrine Journal
سال: 2020
ISSN: 0918-8959,1348-4540
DOI: 10.1507/endocrj.ej20-0163