Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Anna Čechová, Tomáš Honzík, Andrew C. Edmondson, Can Ficicioglu, Mercedes Serrano, Rita Barone, Pascale De Lonlay, Manuel Schiff, Peter Witters, Christina Lam, Marc Patterson, Mirian C.H. Janssen, Joana Correia, Dulce Quelhas, Jolanta Sykut-Cegielska, Horacio Plotkin, Eva Morava, Kyriakie Sarafoglou

Research output: Contribution to journalArticlepeer-review


PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production. Cortisol and ACTH concentrations were simultaneously measured between 7:44 am to 1 pm in forty-three subjects (20 female, median age 12.8 years, range 0.1 to 48.6 years) participating in an ongoing international, multi-center Natural History study for PMM2-CDG ( Identifier: NCT03173300). Of the 43 subjects, 11 (25.6%) had cortisol below 5 μg/dl and low to normal ACTH levels, suggestive of secondary adrenal insufficiency. Two of the 11 subjects have confirmed central adrenal insufficiency and are on hydrocortisone replacement and/or stress dosing during illness; 3 had normal and 1 had subnormal cortisol response to ACTH low-dose stimulation test but has not yet been started on therapy; the remaining 5 have upcoming stimulation testing planned. Our findings suggest that patients with PMM2-CDG may be at risk for adrenal insufficiency. Monitoring of morning cortisol and ACTH levels should be part of the standard care in patients with PMM2-CDG.

Original languageEnglish (US)
Pages (from-to)397-399
Number of pages3
JournalMolecular genetics and metabolism
Issue number4
StatePublished - Aug 2021


  • ACTH
  • CDG
  • Cortisol
  • Glycosylation
  • Inborn errors of metabolism
  • PMM2-CDG
  • Phosphomannomutase 2-CDG

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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