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


METHODS
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.


CONCLUSIONS
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.
Benoit
Isabelle
I
Clinique d'Endocrinologie, Maladies Métaboliques et Nutrition, l'Institut du Thorax, Department of Radiology Department of Pathology, University Hospital, Nantes F-44000, France.
Drui
Delphine
D
Chaillous
Lucy
L
Dupas
Benoît
B
Mosnier
Jean-François
JF
Charbonnel
Bernard
B
Cariou
Bertrand
B
D049913:ACTH-Secreting Pituitary Adenoma / Q000097:blood / Q000473:pathology*; D000236:Adenoma / Q000097:blood / Q000473:pathology*; D000293:Adolescent; D000324:Adrenocorticotropic Hormone / Q000097:blood; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D005938:Glucocorticoids / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D006854:Hydrocortisone / Q000097:blood / Q000172:deficiency / Q000235:genetics; D008279:Magnetic Resonance Imaging; D010902:Pituitary Gland / Q000473:pathology
D005938:Glucocorticoids; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone