Autor(es):
Čechová, Anna ; Honzík, Tomáš ; Edmondson, Andrew C. ; Ficicioglu, Can ; Serrano, Mercedes ; Barone, Rita ; De Lonlay, Pascale ; Schiff, Manuel ; Witters, Peter ; Lam, Christina ; Patterson, Marc ; Janssen, Mirian C.H. ; Correia, Joana ; Quelhas, D ; Sykut-Cegielska, Jolanta ; Plotkin, Horacio ; Morava, Eva ; Sarafoglou, Kyriakie
Data: 2021
Identificador Persistente: http://hdl.handle.net/10400.16/2877
Origem: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
Assunto(s): ACTH; CDG; Cortisol; Glycosylation; Inborn errors of metabolism; PMM2-CDG; Phosphomannomutase 2-CDG
Descrição
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 (ClinicalTrials.gov 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.
