Effect of Busulfan and Treosulfan on Gonadal Function after Allogeneic Stem Cell Transplantation in Children and Adolescents with Nonmalignant Diseases Is Not Exposure-Dependent.

With an increasing number of young patients surviving into adulthood after hematopoietic stem cell transplantation (HSCT), gonadal dysfunction becomes an important late effect with significant impact on quality of life. In this retrospective study, we evaluated the exposure of busulfan (Bu) and treosulfan (Treo) in relation to gonadal function in pediatric patients who underwent HSCT for a nonmalignant disease between 1997 and 2018. In the Bu group, 56 patients could be evaluated, and gonadal dysfunction was found in 35 (63%). Lower Bu exposure (ie, cumulative area under the curve [AUC] <70 mg*h/L) was not associated with a reduced risk of gonadal dysfunction (odds ratio [OR], .92; 95% confidence interval [CI], .25 to 3.49; P = .90). In the Treo cohort, 32 patients were evaluable and gonadal insufficiency occurred in 9 patients (28%). Lower Treo exposure (AUC <1750 mg*h/L on day 1) was not associated with a reduced risk of gonadal dysfunction (OR, 1.6; 95% CI, .16 to 36.6; P = .71). Our data do not support the premise that reduced-intensity Bu-based conditioning reduces the risk for gonadal toxicity, and it is unlikely that therapeutic drug monitoring-based reduced treosulfan exposure will further limit the risk of gonadal dysfunction.

[Growth failure as a symptom of inflammatory bowel disease]. / Afbuigende lengtegroeicurve bij inflammatoire darmziekte.

BACKGROUND: Growth failure can be a unique manifestation of untreated intestinal inflammation in children with inflammatory bowel disease (IBD). It can, however, be difficult to diagnose IBD in the absence of symptoms or in the presence of aspecific gastrointestinal symptoms. A delay in diagnosis is a risk factor for lower adult height. CASE DESCRIPTION: A 15--year-old boy was referred to a paediatric endocrinologist for growth failure and delayed puberty. Additional investigations were performed and he was diagnosed with Crohn's disease. CONCLUSION: IBD needs to be considered in a child presenting with growth failure and delayed puberty. A detailed medical history of any gastrointestinal symptoms should be taken. One should perform additional investigations according to the guidelines in a patient who fulfils criteria of short stature.