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Master Thesis

Étude de la 17 hydroxyprogestérone circulante chez les patients atteints d'hyperplasie macronodulaire des surrénales

Abstract : Bilateral macronodular adrenal hyperplasia (BMAH) is a very heterogeneous pathology. This disease results in an increased volume of the adrenal glands in which nodules can sometimes be individualized. Several pathological mechanisms such as the overactivation of the cAMP / PKA signaling pathway, presence of illegitimate G protein-coupled receptors or paracrine ACTH secretion by adrenal nodules have been demonstrated. Germline and somatic mutations of the ARMC5 gene have proven to be an element that can contribute to the development of adrenal hypertrophy and nodules’ formation. Biologically, an ACTH-dependent Cushing's syndrome may occur and is most often subclinical. Furthermore, other adrenal steroid increases including 17 OH progesterone (17OHP) have been demonstrated in the evaluation of hospital patients.
Our retrospective study aimed to analyze in a significant series of patients with BMAH, the prevalence of 17OHP’s abnormalities as well as try to characterize determinants (morphological or genetic) that can induce them.
From January 2008 to August 2019, 52 patients with BMAH from Bicêtre and Rouen University Hospitals were included. They were thereafter compared to 31 control subjects. Cortisol after 1-mg overnight dexamethasone suppression test was disrupted in 71% of cases. 17OHP was significantly higher after Synacthen test in BMAH than in controls (p <0.0001). This elevation was positively correlated with adrenal size (ρ = 0.29, p = 0.04). This parameter was corrected after unilateral adrenalectomy (p <0.005). Genetically, more heterozygous mutations of CYP21A2 gene were found. This increase was not correlated with significant hormonal differences. Due to a small number of patients, we could not characterize the ARMC5 mutated patients.
This study demonstrates that there is an increase in 17OHP’s secretion after Synacthen test related to the tumor mass in BMAH. This anomaly is therefore no longer exclusively found in congenital adrenal hyperplasias. In addition, we should confirm our results for heterozygous CYP21A2 mutations in a larger cohort. Additional immunohistochemical analyzes could be performed to verify the presence of the mutation in the hyperplastic adrenal glands in order to explore a possible role in the pathophysiology of this disease.
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Master Thesis
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Submitted on : Wednesday, May 27, 2020 - 9:41:45 AM
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Julien Riancho. Étude de la 17 hydroxyprogestérone circulante chez les patients atteints d'hyperplasie macronodulaire des surrénales. Médecine humaine et pathologie. 2019. ⟨dumas-02632011⟩



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