Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing's syndrome. In this case cortisol production can be regulated by both genetic factors and various molecular mechanisms. The presence of aberrant or overexpression of eutopic receptors on the membrane of adrenal cortex may lead to activation of cAMP/PKA signaling pathways and consequently, pathological stimulation of steroidogenesis. Since proving the effectiveness of unilateral adrenalectomy in BMAH by achievement of stable remission, preoperative clinical and laboratory tests (ligand-induced tests) are no longer of relevant. Nevertheless, in the absence of normalization of the level of cortisol in the postoperative period or its recurrence, subsequent specific targeted medical options can be offered only if expression/hyperexpression predominance of one or another receptor. Their detection becomes possible using more reliable diagnostic methods such as polymerase chain reaction (PCR) and immunohistochemical studies (IHC) than clinical laboratory tests. At the moment, PCR has gained a wider application. This article summarizes data on the use of immunohistochemical study in BMAH.

Download full-text PDF

Source
http://dx.doi.org/10.14341/probl12516DOI Listing

Publication Analysis

Top Keywords

bilateral macronodular
8
macronodular adrenal
8
clinical laboratory
8
laboratory tests
8
[immunohistochemical study
4
study expression/hyperexpression
4
expression/hyperexpression aberrant/eutopic
4
aberrant/eutopic receptors
4
receptors patients
4
patients bilateral
4

Similar Publications

Purpose: Primary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of Cushing's syndrome due to bilateral nodules, is a heterogeneous disease at the clinical, hormonal and morphological levels. ARMC5 inactivating pathogenic variants are causative of PBMAH and rare variants of PDE11A have been associated with PBMAH.

Methods: Leukocyte DNA of 354 PBMAH index cases was sequenced for ARMC5 and PDE11A genes by Next generation sequencing (NGS).

View Article and Find Full Text PDF

A 51-year-old female patient with diabetes mellitus and hypertension, exhibiting poor control of blood sugar and blood pressure, was unexpectedly found to have multiple large adrenal nodules, excessive cortisol secretion, and adrenocorticotropic hormone inhibition. Cortisol levels remained unresponsive to both low-dose and high-dose dexamethasone tests, leading to a diagnosis of primary bilateral macronodular adrenal hyperplasia. Concurrently, elevated blood calcium and parathyroid hormone levels, along with 99mTc-methoxyisobutyl isonitrile (99mTc-MIBI) imaging revealing increased 99mTc-MIBI uptake in the right inferior parathyroid gland, suggest the consideration of primary hyperparathyroidism.

View Article and Find Full Text PDF
Article Synopsis
  • Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare condition that causes Cushing syndrome (CS) and can be challenging to diagnose, making up less than 2% of CS cases.
  • The case involves a 52-year-old woman experiencing multiple symptoms including fever, fatigue, and bruising, leading to an eventual diagnosis of PBMAH after lab tests and an abdominal CT scan showed increased cortisol levels and adrenal masses.
  • Although the patient underwent surgery to remove one adrenal gland and her symptoms improved, she continues to rely on glucocorticoid therapy a year later, highlighting the need for more research on effective treatment options for PBMAH.
View Article and Find Full Text PDF

The molecular genetics of adrenal cushing.

Hormones (Athens)

December 2024

Genomic and Signaling of Endocrine Tumors team, INSERM U1016, CNRS UMR8104, Cochin Institute, Paris Cité University, Paris, 75005, France.

Article Synopsis
  • - Adrenal Cushing accounts for 20% of cases of hypercorticism, with unilateral cortisol-producing adenomas (benign tumors) being more common than malignant adrenocortical carcinoma (ACC) and bilateral adrenal diseases.
  • - Key signaling pathways involved in these tumors include protein kinase A and Wnt/β-catenin, with genetic predispositions identified through research on familial cases and pangenomic sequencing.
  • - ACC is often linked to TP53 mutations, particularly in children, and can be associated with various hereditary syndromes, while cortisol-producing adenomas show mutations primarily in PRKACA and CTNNB1.
View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the long-term effectiveness of unilateral adrenalectomy (U-Adx) as a treatment for primary bilateral macronodular adrenal hyperplasia (PBMAH), a type of Cushing's syndrome, which traditionally required bilateral adrenalectomy but posed significant risks.
  • Researchers evaluated 61 patients treated with U-Adx between 2004 and 2022, analyzing their postoperative biochemical outcomes and improving comorbidities such as hypertension and glucose metabolism.
  • Results showed that about 50% of patients achieved initial remission within six months; however, a significant percentage experienced persistent hypercortisolism or recurrence at the last follow-up, highlighting the need for further understanding of prognostic predictors for
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!