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A corticotroph pituitary adenoma as the initial presentation of familial glucocorticoid deficiency

¹ Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, l'Institut du Thorax² , Department of Radiology³ Department of Pathology, University Hospital, Nantes F-44000, France

(Correspondence should be addressed to B Cariou who is now at Clinique d'Endocrinologie, CHU Hôtel-Dieu, 44093 Nantes Cedex 1, France; Email: bertrand.cariou{at}univ-nantes.fr)

Abstract

Context: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive ACTH-resistance syndrome characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Here, we report the case of a young woman with a corticotroph pituitary adenoma as the initial presentation of FGD.

Case report: A 15-year-old girl was referred to our institution for a 16 mm pituitary adenoma associated with glucocorticoid deficiency. Clinical and biological features were evocative of FGD. DNA sequencing did not identify mutations in either the melanocortin 2 receptor (MC2R) or the MC2R accessory protein genes, indicating type 3 FGD. Despite adequate glucocorticoid replacement, plasma ACTH levels remained increased and pituitary magnetic resonance imaging (MRI) showed a progression of the tumour size resulting in optic chiasm compression with intra-tumoural haemorrhaging. When the patient was 26 years old, it was decided that she would undergo transsphenoidal surgery. The histomorphological analysis identified a well-individualized pituitary adenoma immunoreactive for ACTH. The proband's sister also exhibited type 3 FGD associated with pituitary hyperplasia upon MRI.

Conclusion: This case highlights the relationship between FGD and hyperplasia of ACTH-producing cells, potentially leading to histologically proven pituitary corticotroph adenomas. This observation raises the question of the pituitary MRI's significance in the follow-up of FGD.