Long-term effects of hematopoietic stem cell transplantation on endocrine function in childhood and adolescence: a single tertiary care center study

Abstract

The purpose of this study is to evaluate long-term endocrine dysfunctions in pediatric hematopoietic stem cell transplantation (HSCT) survivors. This retrospective study analyzed 141 pediatric HSCT recipients (75 males, 66 females). Endocrine outcomes, including gonadal dysfunction, hypothyroidism, growth hormone deficiency, and adrenal insufficiency, were assessed through clinical evaluations and laboratory tests. Statistical analyses examined associations between conditioning regimens and endocrine complications. Endocrine dysfunction was diagnosed in 46.1% of patients, with a higher prevalence in females (72.7% vs. 22.7% in males). The most striking finding was gonadal dysfunction, which occurred exclusively in girls, and occurred in 72% of female patients, all of whom received myeloablative conditioning. Hypothyroidism was seen in approximately 20% of patients, while growth hormone deficiency and adrenal insufficiency occurred in 3% and 9% of patients respectively.

Conclusion: The study highlights the gender-specific vulnerabilities in endocrine outcomes following HSCT, emphasizes the critical importance of long-term endocrine surveillance and early interventions to mitigate the burden of these complications, and stresses the necessity of optimizing guidelines for endocrine care in this vulnerable population, ultimately enhancing quality of life and long-term outcomes for HSCT survivors.

What is known: • Hematopoietic stem cell transplantation (HSCT) is an important curative therapy for several debilitating and life-threatening conditions, but this is associated with many endocrine dysfunctions. • There is currently a lack of standardized screening guidelines based on timing, age, and gender for detecting endocrine disorders in children who survived HSCT.

What is new: • Endocrine dysfunction was diagnosed in 46.1% of patients, with a higher prevalence in females (72.7% vs. 22.7% in males); the gonadal dysfunction with no pubertal onset and absent secondary sexual characteristics occurred exclusively in girls. • Reduced intensity conditioning regimens can reduce the endocrine dysfunction, while standard screening protocols can improve early diagnosis and management.

Keywords: Adrenal insufficiency; Delayed puberty; Endocrine disease; Gonadal disorder; Growth hormone deficiency; Hematopoietic stem cell transplantation; Hypothyroidism.