Delayed puberty in thalassemia major patients
Keywords:
delayed puberty, endocrine complication, thalassemia major, chelation therapy, serum gonadotropin, sex hormone
Abstract
Background Delayed puberty is the most common endocrine com-plication in thalassemia major. The main cause of delayed pu-
berty in thalassemia major is the failure of the hypothalamic-pitu-
itary axis due to iron accumulation in the pituitary.
Objectives The purpose of this study was to determine the preva-
lence of delayed puberty in β-thalassemia major patients in the
Department of Child Health, Cipto Mangunkusumo Hospital,
Jakarta. This study also evaluated the adequacy of chelation
therapy and determined serum gonadotropin and sex hormone
levels in these patients.
Methods Seventy-two patients with β-thalassemia major aged 13-
18 years old who visited the Thalassemia Outpatient Clinic of Cipto
Mangunkusumo Hospital during February-July 2003 were included
in the study. Each subject underwent examinations to determine
the body weight and height, pubertal status, serum iron level, total
iron binding capacity, and the levels of serum LH, FSH, estradiol
(in girls) or testosterone (in boys).
Results Delayed puberty occurred in 40 of 72 patients (56%). The
majority of patients with delayed puberty showed low levels of se-
rum LH, estradiol, and testosterone whereas low levels of serum
FSH only occurred in 6 of 21 boys and 11 of 19 girls. Most of the
patients without delayed puberty had normal levels of serum LH,
FSH, and estradiol, but 8 of 16 boys showed decreased serum
testosterone levels. Only 3 patients used chelation therapy ad-
equately, all of them showed normal puberty.
Conclusions The prevalence of delayed puberty in β-thalassemia
major patients in this study was still high (56%). Periodic examina-
tion and recording of pubertal stage need to be done in girls who
have reached 8 years old and boys who have reached 9 years old
so that early detection and management of delayed puberty can
be done.
References
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semia major. N Engl J Med 1990;323:713-9.
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16. Anoussakis CH, Alexiou D, Abatzis D, Bechrakis G. En-
docrinological investigation of pituitary-gonadal axis in
thalassemia major. Acta Paediatr Scand 1977;66:49-51.
17. Borgna-Pignatti C, De Stefano P, Zonta L, Vullo C, De
Sanctis V, Melevendi C, et al. Growth and sexual matura-
tion in thalassemia major. J Pediatr 1985;106:150-4.
18. Cao A, Galanello R, Rosatelli MC, Argiole F, Virgillis
SD. Clinical experience of management of thalas-
semia: the Sardinian experience. Semin Hematol
1996;33:66-74.
FKUI/RSCM. Petunjuk diagnosis dan tata laksana
kasus talasemia. Jakarta: Bagian IKA FKUI/RSCM;
1997. p. 1-22.
2. Wahidiyat I. Thalassemia dan penanganannya. In:
Wahidiyat I, Gatot D, Mangunatmadja I, editors.
Perkembangan mutakhir penyakit hematologi onkologi
anak. Proceedings of the 24th Pediatric Continuing Medi-
cal Education, Medical School, University of Indonesia;
1991. Jakarta: Bagian IKA FKUI; 1991. p. 109-12.
3. Oeter KE, Kamp GA, Munson PJ, Nienhuis AW, Cassorla
FG, Manasco PK. Multiple hormone deficiencies in chil-
dren with hemochromatosis. J Clin Endocrinol Metab
1993;76:357-61.
4. Sklar CA, Lew LQ, Yoon DJ, David R. Adrenal func-
tion in thalassemia major following long-term treatment
with multiple transfusions and chelation therapy. AJDC
1987;141:327-30.
5. Italian Working Group on endocrine complications in
non-endocrine diseases. Multicenter study on preva-
lence of endocrine complications in thalassemia ma-
jor. Clin Endocrinol 1995;42:581-6.
6. Lo L. Thalassemia–current approach to an old dis-
ease. Pediatr Clin North Am 2002;49:1165-91.
7. Lee PA. Disorder of puberty. In: Lifshitz F, editor. Pediatric
endocrinology. 3 rd ed. New York: Marcel Dekker Inc; 1996. p.
179-95.
8. Ravel R. Factor deficiency anemia. In: Ravel R, edi-
tor. Clinical laboratory medicine. 6 th ed. St. Louis:
Mosby-Year Book Inc; 1995. p. 22-34.
9. Wahidiyat I, Abdulsalam M, Markum AH, Muslichan
MZ. Thalassemia and its problem in the adolescent
age. Pediatr Indones 1983;23:85-94.
10. Kulin HE, Muller J. Biological aspects of puberty. Pediatr
Rev 1996;17:75-86.
11. Fairbanks VF, Brandhagen DJ. Iron overload (hemo-
chromatosis). In: Goldman L, Bennet JC, editors.
Goldman-Cecil textbook of medicine. 21 st ed. Phila-
delphia: WB Saunders; 2000. p. 1133-35.
12. Ponka P, Beaumont C, Richardson DR. Function and regu-
lation of transferrin and ferritin. In: Conrad ME, editor. Semin
Hematol 1998;35:35-51.
13. Bronspiegel-Weintrob N, Oliveri NF, Tyler B, Andrews
DF, Freedman MH, Holland FJ. Effect of age at the start
of iron chelation therapy on gonadal function in β thalas-
semia major. N Engl J Med 1990;323:713-9.
14. Bridges KE. Iron metabolism and sideroblastic anemia. In:
Nathan DG, Oski FA, editors. Hematology of infancy and
childhood. 4 th ed. Philadelphia: WB Saunders; 1993. p. 391-
412.
15. Bacon BR, Brown KE. Iron metabolism and disorders of
iron overload. In: Kaplowitz N, editor. Liver and biliary
disease. 2 nd ed. Baltimore: Williams & Wilkins; 1996. p.
349-62.
16. Anoussakis CH, Alexiou D, Abatzis D, Bechrakis G. En-
docrinological investigation of pituitary-gonadal axis in
thalassemia major. Acta Paediatr Scand 1977;66:49-51.
17. Borgna-Pignatti C, De Stefano P, Zonta L, Vullo C, De
Sanctis V, Melevendi C, et al. Growth and sexual matura-
tion in thalassemia major. J Pediatr 1985;106:150-4.
18. Cao A, Galanello R, Rosatelli MC, Argiole F, Virgillis
SD. Clinical experience of management of thalas-
semia: the Sardinian experience. Semin Hematol
1996;33:66-74.
Published
2016-10-10
How to Cite
1.
Batubara J, Akib A, Pramita D. Delayed puberty in thalassemia major patients. PI [Internet]. 10Oct.2016 [cited 22Nov.2024];44(4):143-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/753
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Received 2016-09-30
Accepted 2016-09-30
Published 2016-10-10
Accepted 2016-09-30
Published 2016-10-10
