The experience of a tertiary unit on the clinical phenotype and management of hypogonadism in female adolescents and young adults with transfusion dependent thalassemia.

Abstract

BACKGROUND\nTransfusion-dependent β-thalassemia (TDT) is associated with several complications necessitating a multidisciplinary approach for diagnosis, treatment and follow-up. Hypogonadism in female TDT patients is one of the most common endocrine complications, requiring hormone replacement therapy (HRT) throughout reproductive life. Little is known about the balance of benefits versus risks of treatment with sex steroids.\n\n\nAIM\nThe aim of this manuscript is to review the action and the associated adverse effects of HRT in hypogonadal TDT females.\n\n\nDESIGN\nRetrospective medical database records from a single centre, over a period of 38 years (January 1980 to June 2018), were reviewed.\n\n\nSTUDY POPULATION\nForty-two cases of hypogonadism in TDT females followed in a pediatric and adolescent outpatient clinics, were in included in the study.\n\n\nMETHODS\nAuxological, clinical, laboratory, hormonal and imaging investigations were reviewed, as well as all adverse events registered during HRT.\n\n\nMAIN RESULTS\nIn general, HRT was safe for most patients. There were few minor side effects and a couple of rare but serious adverse events.\n\n\nCONCLUSIONS\nThe study provides a representative clinical profile of long-term effects of HRT in hypogonadal adolescents and young adult TDT women. Our results highlight also the need for further research in other areas for which HRT may have a role.\xa0 We hope this will contribute to a wider understanding, and potential improvement, of patient safety and quality of life.