Publications by authors named "Marie L Raffin Sanson"
Meningiomas are common intracranial tumors with a female predominance. Their etiology is still poorly documented. The role of sexual hormones has long been evoked, and data have been conflicting across studies.
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- Androgen receptor (AR) gene mutations lead to androgen insensitivity syndrome (AIS), which manifests in varying degrees from mild symptoms like gynaecomastia and infertility to complete feminization.
- This study identifies a new AR gene mutation (Ala699Thr) in two unrelated male patients with mild AIS and examines its functional impact through 3D modeling.
- Both patients had elevated testosterone and fertility issues; one successfully conceived twins through IVF, while the other had children naturally despite low sperm quality, highlighting the diverse presentations of MAIS and the importance of understanding AR mutations.
Background: Genetic aberrations in various components of cAMP signalling pathway predispose to endocrine tumours. Mutations in the phosphodiesterases (PDEs) are involved in the predisposition to adrenocortical neoplastic conditions.
Objective: To screen for genetic variations in PDE8B among patients with different types of adrenocortical tumours.
Inactivating germline mutations in phosphodiesterase 11A (PDE11A) have been implicated in adrenal tumor susceptibility. PDE11A is highly expressed in endocrine steroidogenic tissues, especially the testis, and mice with inactivated Pde11a exhibit male infertility, a known testicular germ cell tumor (TGCT) risk factor. We sequenced the PDE11A gene-coding region in 95 patients with TGCT from 64 unrelated kindreds.
View Article and Find Full Text PDFPurpose: We have reported previously nonsense inactivating mutations of the phosphodiesterase 11A (PDE11A) gene in patients with micronodular adrenocortical hyperplasia and Cushing syndrome. The aim of this study is to investigate the presence of somatic or germ-line PDE11A mutations in various types of adrenocortical tumors: ACTH-independent macronodular adrenocortical hyperplasia (AIMAH), adrenocortical adenoma (ACA), and adrenocortical cancer (ACC).
Experimental Design: PDE11A was sequenced in 117 adrenocortical tumors and 192 controls subjects; immunohistochemistry for PDE11A and tumor cyclic AMP levels were studied in a subgroup of adrenocortical tumors.