Vincenzo De Sanctis1, Ashraf T. Soliman2, Heba Elsedfy3, Alice Albu4, Soad Al Jaouni5, Salvatore Anastasi6, Maria Grazia Bisconte7, Duran Canatan8, Soteroula Christou9, Shahina Daar10, Salvatore Di Maio11, Mohamed El Kholy3, Doaa Khater12, Mohamed Elshinawy13 ,Yurdanur Kilinc14, Roberto Mattei15, Hala H. Mosli16, Alessandra Quota17, Maria Grazia Roberti18, Praveen Sobti19, Saif AL Yaarubi20, Saveria Canpisi21 and Christos Kattamis22
1 Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.
2 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.
3 Department of Pediatrics, Ain Shams University, Cairo, Egypt.
4 Endocrinology and Diabetes Department of Elias Hospital, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
5 Head Division of Pediatric Hematology Oncology, Deputy Chair of Hematology & Head Section of Hematology Research Lab, King Fahd Medical Research Center Department of Hematology Faculty of Medicine, King Abdulaziz University Jeddah, Kingdom of Saudi Arabia.
6 Thalassemia Unit, Maternal and Child Department, Garibaldi Hospital, Catania, Italy.
7 Thalassemia Unit, Cosenza, Italy.
8 Director of Thalassemia Diagnosis Center of Mediterranean Blood Diseases Foundation Antalya, Turkey.
9 Thalassemia Unit, Nicosia, Cyprus.
10 Department of Haematology, College of Medicine and Health Sciences, Sultan Qaboos University, Sultanate of Oman & Visiting Scholar, Stellenbosch Institute for Advanced Study (STIAS), Wallenberg Research Centre at Stellenbosch University, Stellenbosch 7600, South Africa.
11 Emeritus Director in Pediatrics, Children's Hospital "Santobono-Pausilipon", Naples, Italy.
12 Department of Pediatrics, Endocrinology Unit, Alexandria University Children's Hospital, Egypt and Child Health Department, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman.
13 Department of Pediatrics, Hematology Unit, Faculty of Medicine, University of Alexandria, Egypt and Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.
14 Çukurova University, Medical Faculty, Department of Pediatric Hematology, Adana, Turkey.
15 Pediatric Unit, Adria, Italy.
16 Internal Medicine, Endocrinology and Metabolism, Department of Medicine King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
17 Thalassemia Unit, Gela, Italy.
18 Immunohematology and Blood Bank Unit, OORR Foggia, Italy.
19 Pediatric Hemato-Oncology Unit , Christian Medical College and Hospital, Ludhiana Punjab, India.
20 Head of Pediatric Endocrine Unit, Department of Child Health, Sultan Qaboos University Hospital, Al-Khoud, Sultanate of Oman.
21 Thalassemia Unit, Umberto 1° Hospital, Siracusa, Italy
22 First Department of Paediatrics, University of Athens, Athens, Greece.
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Background: Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists.
The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder. Also to be aware of the side effects, contraindications and monitoring of sex steroid therapy. In this paper, practical ICET-A recommendations for the management of hypogonadism in adult females with TM are addressed.
Methods: In March 2015, the Coordinator of the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) conducted a two-step survey to assess the attitudes and practices of doctors in the ICET-A network taking care of adult female TM patients with hypogonadism. They were clinically characterized by the absence of pubertal development or discontinuation or regression of the maturation of secondary sex characteristics, and biochemically by persistent low FSH, LH and estradiol levels. Recently a supplementary survey on adult female hypogonadism in TM was undertaken within the ICET-A network.
Results: The completed questionnaires were returned by 16 of 27 specialists (59.2%) following 590 female TM patients over the age of 18 years; 315 patients (53.3%) had hypogonadism, and only 245 (74.6%) were on hormone replacement therapy (HRT). Contraceptive oral pills (COC) were the first treatment choice in 11 centers (68.7%). A wide range of COCs was used with different progestin contents. In general, the patients’ compliance to treatment was reported as good in 81.2% of centers. The frequency of required tests for follow-up HRT, in addition to the regular check-up for thalassemia, was variable in the participating centers.
Conclusions: Doctors taking care of TM patients should have sound knowledge of the pathophysiology of hypogonadism in adult females with TM. They should know the potential effects of HRT including advantages and disadvantages of estrogen and progestins. Moreover, they should keep in consideration the emotional needs of these patients dreaming of attaining a full pubertal development.
Materials and Methods19196677
|Table 1. Frequency of required tests during follow-up of TM patients with hypogonadism on HRT.|
Conclusions and Recommendations
|Table 2. The ICET-A recommendations for female TM patients with hypogonadism.|
|Table 3. The ICET-A guidelines for the monitoring of HRT in female TM patients with hypogonadism.|
AcknowledgementsWe wish to express our sincere thanks to dr. Ploutarchos Tzoulis, Department of Endocrinology, Whittington Hospital, University College London, London, UK for taking part in the second step survey promoted by ICET-A.