Document detail
ID
doi:10.1007/s11154-024-09880-2...
Author
Rossi, Alessandro Simeoli, Chiara Pivonello, Rosario Salerno, Mariacarolina Rosano, Carmen Brunetti, Barbara Strisciuglio, Pietro Colao, Annamaria Parenti, Giancarlo Melis, Daniela Derks, Terry G.J.Langue
enEditor
Springer
Category
Medicine & Public Health
Year
2024
listing date
4/3/2024
Keywords
glycogen storage disease growth hormone thyroid bone mineral density cortisol gonads glycogen gsdAbstract
Hepatic glycogen storage diseases constitute a group of disorders due to defects in the enzymes and transporters involved in glycogen breakdown and synthesis in the liver.
Although hypoglycemia and hepatomegaly are the primary manifestations of (most of) hepatic GSDs, involvement of the endocrine system has been reported at multiple levels in individuals with hepatic GSDs.
While some endocrine abnormalities (e.g., hypothalamic‑pituitary axis dysfunction in GSD I) can be direct consequence of the genetic defect itself, others (e.g., osteopenia in GSD Ib, insulin-resistance in GSD I and GSD III) may be triggered by the (dietary/medical) treatment.
Being aware of the endocrine abnormalities occurring in hepatic GSDs is essential (1) to provide optimized medical care to this group of individuals and (2) to drive research aiming at understanding the disease pathophysiology.
In this review, a thorough description of the endocrine manifestations in individuals with hepatic GSDs is presented, including pathophysiological and clinical implications.
Rossi, Alessandro,Simeoli, Chiara,Pivonello, Rosario,Salerno, Mariacarolina,Rosano, Carmen,Brunetti, Barbara,Strisciuglio, Pietro,Colao, Annamaria,Parenti, Giancarlo,Melis, Daniela,Derks, Terry G.J., 2024, Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care, Springer
