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

Vincenzo De Sanctis; Ashraf T Soliman; Shahina Daar; Salvatore Di Maio; Mohamed A Yassin; Duran Canatan; Joan-Lluis Vives Corrons; Heba Elsedfy; Antonios Kattamis; Christos Kattamis

doi:10.23750/abm.v90i1.8143

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

Authors

Vincenzo De Sanctis Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy
Ashraf T Soliman Department of Pediatrics, Division of Endocrinology, Hamad General Hospital Doha, Qatar and Department of Pediatrics, Division of Endocrinology, Alexandria University Children's Hospital, Alexandria, Egypt
Shahina Daar Department of Haematology, College of Medicine and Health Sciences, Sultan Qaboos University, Sultanate of Oman
Salvatore Di Maio Emeritus Director in Pediatrics, Children's Hospital "Santobono-Pausilipon", Naples, Italy
Mohamed A Yassin Hematology Section, National Center for Cancer Care and Research, Hamad Medical Corporation, (HMC), Doha, Qatar
Duran Canatan Director of Thalassemia Diagnosis Center of Mediterranean Blood Diseases Foundation Antalya, Turkey
Joan-Lluis Vives Corrons Red Blood Cell and Haematopoietic Disorders Unit. Institute for Leukaemia Research Josep Carreras (IJC) and University of Barcelona, Catalonia, Spain
Heba Elsedfy Department of Pediatrics, Ain Shams University, Cairo, Egypt
Antonios Kattamis First Department of Paediatrics, “Agia Sophia Children’s Hospital” National Kapodistrian University of Athens, Athens, Greece
Christos Kattamis

DOI: https://doi.org/10.23750/abm.v90i1.8143

Keywords:

transfusion-dependent β-thalassemia, hypogonadism, primary and secondary amenorrhea, hormone replacement therapy, stroke, thin endometrium, adverse events, ICET-A

Abstract

Background: Transfusion-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. Aim: The aim of this manuscript is to review the action and the associated adverse effects of HRT in hypogonadal TDT females. Design: Retrospective medical database records from a single centre, over a period of 38 years (January 1980 to June 2018), were reviewed. Study population: Forty-two cases of hypogonadism in TDT females followed in a pediatric and adolescent outpatient clinics, were in included in the study. Methods: Auxological, clinical, laboratory, hormonal and imaging investigations were reviewed, as well as all adverse events registered during HRT. Main results: In general, HRT was safe for most patients. There were few minor side effects and a couple of rare but serious adverse events. Conclusions: The 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. We hope this will contribute to a wider understanding, and potential improvement, of patient safety and quality of life.