While growth restriction and subsequent short stature are known manifestations of various types of glycogen storage disease (GSD), the use of growth hormone (GH) therapy is generally not recommended, and some consensus guidelines consider it contraindicated. This, for fear of increased size and number of liver adenomas, risk of pancreatitis and increased hyperlipidemia, among other possible adverse effects. Nevertheless, apart from anecdotal reports in the literature, data regarding the use of GH therapy in this patient population are scarce, and the controversy around this therapeutic modality can be questioned and deliberated.
We report herein our experience with three male patients with GSD type Ia and an additional male patient with GSD type IX, who showed significant short stature for which GH treatment was utilized. Various medical, familial and personal considerations leading to the decision to initiate treatment are discussed (among which, for instance, parental choice to initiate treatment due to severe short stature compromising potential matchmaking in religious communities), as are effects on growth and metabolic parameters, and overall tolerance and safety.
The cases described underscore the multi-faceted decision-making process of the families and clinicians with regard to the possibility of growth hormone therapy in glycogen storage disease, and raise the question of whether or not this management strategy should be considered, and under what clinical circumstances.
