The impact of iron overload and genotype on gonadal function in women with thalassaemia major.
OBJECTIVE
The purpose of this study is to evaluate the impact of chronic iron overload and genotype on gonadal function in women with thalassaemia major.


METHODS
The study population consists of 101 women aged 15-48 years who were treated between 1981 and 1999. These women were divided into two groups according to their genotype: [A=no modifying genetic factor and B=presence of modifying factors], and into four groups according to their menstrual history: NM (normal menstruation), OLM (oligomenorrhea), PA (primary amenorrhea), and SA (secondary amenorrhea).


RESULTS
Women with NM maintained eumenorrhoea for 14.62 years, whereas those with SA did so for 6.94 years. The serial values of both FSH and LH after stimulation with GnRH were lower in women with SA and PA (p<0.05) compared to women with OLM and NM. The average value of the minimum, mean and maximum ferritin levels over a period of 20 years displayed an increasing trend from women with NM to those with SA and PA. The lower levels of ferritin in women in Group A did not protect them from developing SA. In addition women with SA, who belong to Group A, had a shorter duration of eumenorrhoea compared to the ones with SA who belong to Group B.


CONCLUSIONS
Although the pathogenesis of gonadal dysfunction in thalassaemia is known to be the consequence of iron overload, this study demonstrates that genotype acts as an independent variable, contributing to the development of SA in thalassaemic women.
Skordis
Nicos
N
Pediatric Endocrine Unit, Makarios Hospital, Nicosia, Cyprus. nskordis@cytanet.com.cy
Gourni
Maritsa
M
Kanaris
Constantinos
C
Toumba
Meropi
M
Kleanthous
Marina
M
Karatzia
Ntina
N
Pavlides
Nicos
N
Angastiniotis
Michael
M
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000209:etiology* / Q000235:genetics / Q000378:metabolism; D015913:Chelation Therapy; D005260:Female; D005293:Ferritins / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D005838:Genotype; D005914:Globins / Q000235:genetics; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D007030:Hypothalamo-Hypophyseal System / Q000503:physiopathology; D019190:Iron Overload / Q000097:blood / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D007986:Luteinizing Hormone / Q000097:blood; D008597:Menstrual Cycle; D008875:Middle Aged; D009154:Mutation; D012189:Retrospective Studies; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications* / Q000188:drug therapy / Q000235:genetics
D006454:Hemoglobins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D005914:Globins; D005293:Ferritins