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Imaging showed markedly enlarged bilateral adrenal glands and mild Cushing syndrome features. Guideline-driven genetic testing followed initial management targeting comorbidities and hypercortisolism monitoring; aberrant receptor testing was negative. Progression to overt Cushing syndrome led to nor-cholesterol scintigraphy and right adrenalectomy. Hypogonadotropic hypogonadism and hyperprolactinemia revealed a pituitary microprolactinoma on MRI, representing a second PBMAH case linked to pituitary adenoma in ARMC5 context.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/primary-bilateral-macronodular-adrenal-hyperplasia-associated-with-armc5-variant-and-pituitary-microadenoma/443518/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/primary-bilateral-macronodular-adrenal-hyperplasia-associated-with-armc5-variant-and-pituitary-microadenoma/443518.png","ImageObject",300,407,{"name":92,"@type":93},"Aurelia","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-02","2026-09-29",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",11,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What condition does the case describe and how is it characterized clinically?","Question",{"text":113,"@type":114},"The case describes primary bilateral macronodular adrenal hyperplasia (PBMAH), with markedly enlarged bilateral adrenal glands and clinical features consistent with mild then overt Cushing syndrome.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"Which genetic finding was identified in this patient?",{"text":118,"@type":114},"Genetic testing identified a novel germline ARMC5 variant of uncertain significance: c.2525T > C (p.Phe842Ser).",{"name":120,"@type":111,"acceptedAnswer":121},"How was the pituitary lesion diagnosed and what did it lead to?",{"text":122,"@type":114},"Concurrent hypogonadotropic hypogonadism and hyperprolactinemia prompted pituitary imaging, which identified a pituitary microprolactinoma on magnetic resonance imaging (MRI).","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},443518,1791100864,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":29,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145,"preview_page_count":4},1099514068365,"https://ap-avatar.wpscdn.com/avatar/10000253d8d9f28188e?_k=1776742907772140068","Primary Bilateral Macronodular Adrenal Hyperplasia Associated With ARMC5 Variant and Pituitary Microadenoma  \nLucía O’Connor-Ramiro, 1 Pablo J. Fernández, 1 Julia Maroto,2 Ana Patiño-García,3,4 Javier Escalada,1,4,5 and Carolina M. Perdomo 1,4,5  \n1 Department of Endocrinology and Nutrition, Clínica Universidad de Navarra, Pamplona, Navarra 31008, Spain 2 Department of Biochemistry, Clínica Universidad de Navarra, Pamplona, Navarra 31008, Spain  \n3 Department of Pediatrics and Clinical Genetics Unit, Clínica Universidad de Navarra, Pamplona, Navarra 31008, Spain 4 IdiSNA (Instituto de Investigación en la Salud de Navarra), Pamplona, Navarra 31008, Spain  \n5Centro de Investigación Biomédica en Red-Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Pamplona, Navarra 31008, Spain  \nCorrespondence: Carolina M. Perdomo, MD, PhD, Department of Endocrinology and Nutrition, Clínica Universidad de Navarra, Av. de Pío XII, 36, Pamplona, Navarra 31008, Spain. Email: [cperdomo@unav.es](cperdomo@unav.es).  \nAbstract  \nWe report a case of primary bilateral macronodular adrenal hyperplasia (PBMAH) in a 63-year-old man with a novel germline armadillo repeatcontaining protein 5 (ARMC5) variant of uncertain significance (c.2525T > C; p. Phe842Ser) . Imaging and clinical findings revealed markedly enlarged bilateral adrenal glands and features of mild Cushing syndrome (CS) . Clinical suspicion and recommendations from guidelines prompted genetic testing. Initial management focused on controlling comorbidities and monitoring hypercortisolism. Aberrant receptor testing was negative. Progression to overt CS prompted a nor-cholesterol scintigraphy scan, revealing higher uptake in the right adrenal gland. Right adrenalectomy was performed. Concurrent findings of hypogonadotropic hypogonadism and hyperprolactinemia led to the diagnosis of a pituitary microprolactinoma on magnetic resonance imaging. To our knowledge, this is the second reported case of PBMAH associated with a pituitary adenoma in the context of an ARMC5 variant.  \nKey Words: ARMC5 gene, primary bilateral macronodular adrenal hyperplasia, pituitary microadenoma  \nAbbreviations: ACTH, adrenocorticotropin; APC, adenomatous polyposis coli; ARMC5, armadillo repeat containing 5; AVS, adrenal venous sampling; cAMP, cyclic adenosine monophosphate; CS, Cushing syndrome; FH, fumarate hydratase; FSH, follicle-stimulating hormone; GNAS, guanine nucleotide binding protein, α stimulating; GnRH, gonadotropin–releasing hormone; KDM1A, lysine demethylase 1A; LH, luteinizing hormone; MEN1, multiple endocrine neoplasia 1; MACS, mild autonomous cortisol secretion; MRI, magnetic resonance imaging; PBMAH, primary bilateral macronodular adrenal hyperplasia; PDE11A, phosphodiesterase 11A; PKA, protein kinase A; PRKACA, protein kinase cAMP-activated catalytic subunit α .  \nIntroduction  \nPrimary bilateral macronodular adrenal hyperplasia (PBMAH) is characterized by multiple nonpigmented macronodules (> 1 cm) [1] . Its morphological and clinical presentation is heterogeneous [2], and in some cases leads to cortisol overproduction and Cushing syndrome (CS) . It accounts for less than 2% of endogenous CS and approximately 10% to 15% of adrenal CS cases [3] . Patients commonly present with mild autonomous cortisol secretion (MACS), which may progress to CS over time. PBMAH may be sporadic or caused by genetic mutations that promote abnormal adrenal growth [1], thereby affecting hormone regulation pathways. Germline armadillo repeat-containing protein 5 (ARMC5) mutations are a frequent genetic defect [1], responsible formost familial cases [3] . Their prevalence may reach 55% in overt CS and approximately 11% in mild CS [1] .  \nCase Presentation  \nA 63-year-old White man with a history of ulcerative colitis, depression, coxarthrosis, and previously well-controlled hypertension (off medication) was referred to our endocrinology clinic in September 2023 for a second opinion after a P","cbCaiiPxg6LiVrOS","https://ap.wps.com/l/cbCaiiPxg6LiVrOS","pdf",3491285,"English","# Introduction\n# Case Presentation\n## Patient history and initial evaluation\n## Hormonal assessment over time\n# Diagnostics and management\n## Genetic testing and adrenal localization\n## Surgery and subsequent pituitary diagnosis","[{\"question\":\"What condition does the case describe and how is it characterized clinically?\",\"answer\":\"The case describes primary bilateral macronodular adrenal hyperplasia (PBMAH), with markedly enlarged bilateral adrenal glands and clinical features consistent with mild then overt Cushing syndrome.\"},{\"question\":\"Which genetic finding was identified in this patient?\",\"answer\":\"Genetic testing identified a novel germline ARMC5 variant of uncertain significance: c.2525T \\u003e C (p.Phe842Ser).\"},{\"question\":\"How was the pituitary lesion diagnosed and what did it lead to?\",\"answer\":\"Concurrent hypogonadotropic hypogonadism and hyperprolactinemia prompted pituitary imaging, which identified a pituitary microprolactinoma on magnetic resonance imaging (MRI).\"}]","Primary Bilateral Macronodular Adrenal Hyperplasia Associated With ARMC5 Variant and Pituitary Microadenoma | PDF",1790704302,15]