Introduction: Gonadal insufficiency is a common long-term endocrinological complication of BMT and is mainly associated with the chemotherapy protocol. In the literature, gonadal insufficiency after BMT varies between 66% -80% in girls and 35-60% in boys
Aim: to investigate the frequency and the factors affecting gonadal insufficiency in cases with BMT due to non-malignant indications in children or adolescence.
Methods: Between 39 BMT patients were included in the study. Patients were classified according to diagnosis, treatment protocols, age during chemotherapy and their effect on gonadal insufficiency were investigated. Gonadal insufficiency was defined as inappropriately high gonadotropin levels for the pubertal stage. Those who had gonadal insufficiency before BMT or had any other treatment that could cause gonadal insufficiency and those with chromosomal abnormalities were excluded from the study.
Results: Of the 39 patients, 20 were female (51.3%) and 19 (49.3%) were male. The median age at admission was 10.73 years (2.82-18.75) and the age of BMT was 8.16 years (0.57-17.01). In terms of diagnosis, 11 (28.2%) had thalassemia major, 9 (23.1%) Fanconi aplastic anemia, 6 (15.4%) aplastic anemia, 3 (7.7%) severe combined immunodeficiency, 3 (7.7%) chronic granulomatous disease, 2 (5.1%) hyper IgM syndrome, 2 (5.1%) hyper IgE syndrome, 1 (2.6%) metachromatic leukodystrophy, 1 (2.6%) Wiskott Aldrich syndrome 1 (2.6%) Diamond Blackfan anemia.
Hypergonadotropic hypogonadism (HH) after BMT was detected in 13 (33%) of the patients. Med age of the patients with and without gonadal insufficiency was 11.23 years (5.56-16.11) and 6.88 years (0.57-17.01) respectively (P = 0.031). 12 (92 %) of these patients were prepubertal whereas 1 of them was at Tanner stage2.
Patients with gonadal insufficiency received at least two out of Fludarabine, Cyclophosphamide or Busulfan regimens. Although 4 (80%) of 5 patients who received Fludarabine-Busulfan-Cyclophosphamide BMT regimen had gonadal insufficiency, none of the 5 patients receiving cyclophosphamide had gonadal insufficiency.Conclusion:In the indications of BMT, non-malignant causes are increasing for years and treatment protocols are changing. Gonadal insufficiency was found to be lower in this study compared to the literature. BMT in prepubertal phase, advanced age and the presence of at least two of Fludarabine, Cyclophosphamide or Busulfan regimens in pre-BMT period are risk factors.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology