الفهرس 
THALASSEMIAOnly 14 pages are availabe for public view
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Abstract
T
hirty nine male tansfusion dependent thalassemic patients aged more than fourteen years with a mean age of 19.7 4.92 (range 14: 37 years) regularly attended the thalassemia clinic, Pediatric department of Ain Shams University Hospital were examined for hypothalamic-pituitary-testicular function.
Inclusion criteria:
The study included the following patients:
C) Male patients aged ≥ 14 years.
D) Beta thalassemia major patients.
Exclusion criteria:
E) Female patients.
F) Age < 14 years.
G) Other types of thalassemia (other than beta-thalassemia major).
All patients included in the study were subjected to the following:
1- Full history taking:
Including age of the patient, age at diagnosis of beta-thalassemia major, duration on regular blood transfusion, duration on regular chelation, chelation type and compliance and number of blood transfusions per year.
2- Physical examination:
Height SDS, weight SDS, sitting height SDS and weight/height SDS and body mass index (BMI) were calculated.
3- Assessment of puberty:
Assessment of puberty was done according to Tanner’s classification.
4- Radiological examination:
Plain X-ray on the left wrist and hand was done to detect the bone age of the patients.
5- Laboratory investigations:
A) Investigations recorded from patient’s file:
- Last serum ferritin level.
- Mean serum ferritin level in the last years.
- Mean pretransfusion hemoglobin level in the last year.
B) Hormonal investigations:
- Basal LH, FSH and T Levels.
- Serum LH and FSH levels 4 hours after injection of 100 µg of GnRHa, and serum T level 24 hours after GnRHa injection.
- Serum T level 72 hours after injection of HCG in a dose of 5000 IU in patients with normal LH and FSH and low T response to GnRHa.
C) Semen analysis:
- Semen analysis was done for pubertal patients (Tanner 5), with special emphasis on the sperms count, active motility of sperms and percentage of abnormal sperm forms.
Endocrinal evaluation:
According to the Tanner’s staging for age, patients were classified into:
1- Pubertal males: reaching proper Tanner stage for their ages and include 11 patients (28%).
2- Patients with delayed puberty: included 28 patients (72%).
Pubertal males were tested for spermatogenic function by semen analysis while patients with delayed puberty were tested for pituitary-testicular axis function by estimating basal LH, FSH and T levels and then patients received 100 µg of GnRHa and 4 hours LH and FSH levels were estimated and 24 hours T was estimated.
According to pituitary response to GnRHa patients with delayed puberty were divided into two groups:
a. Patients with good pituitary response (post-stimulation LH level < 7mIU/ml): included 12 patients (43%). All of them had good testicular response to GnRHa (post-stimulation T level < 0.9 ng/ml).
b. Patients with poor pituitary response (post-stimulation LH level > 7mIU/ml): included 16 patients (57%). were further classified according to the 24 hours post-stimulation T level into 2 groups:
i. Patients with good testicular response (post-stimulation T level < 0.9 ng/ml): included 5 patients (31%).
ii. Patients with poor testicular response (post-stimulation T level > 0.9 ng/ml): included 11 patients (69%).
Demographic and transfusion data:
There was lower transfusion index last year in normal pubertal patients (86.2 ± 27.7) compared to patients with delayed puberty (107.36 ± 29.16), while there was no significant difference in the age of patients with normal puberty (22.38 ± 5.69) compared to patients with delayed puberty (18.68 ± 4.25), there was also no significant difference in age at diagnosis, duration on regular transfusion or duration on regular chelation between both groups.
There was significant older age at diagnosis (26.42 ± 16.90) in normal pituitary response patients to GnRH compared to poor pituitary responding patients (12.44 ± 8.58), however there was no significant difference in age at diagnosis, duration on regular transfusion, duration on regular chelation, transfusion index last year between both groups.
There was no significant difference in age, age at diagnosis, duration on regular transfusion or duration on regular chelation and transfusion index last year between patients with good testicular response and patients with poor testicular response.
Anthropometric data:
Patients included in this study had a mean weight SDS of (-1.76 ± 1.21), 46% of patients had abnormal low weight for their ages (Wt. SDS below -2). Mean height SDS was (-2.17 ± 1.46), short stature (Ht. SDS below -2 SDS) was found in 53.8% of patients, while severe short stature (Ht. SDS below -3 SDS) was found in 28.2% of patients. Mean sitting height SDS was (-2.95 ± 1.50).
Normal pubertal thalassemics had higher weight SDS (-0.86 ± 1.26), height SDS (-1.25 ± 1.35), sitting height SDS (-2 ± 1.44) compared to delayed pubertal ones (-2.11 ± 1.01), (-2.51 ± 1.35), (-3.33 ± 1.37), however no significant difference in both groups as regards the weight/height SDS (0.25 ± 0.64), (0.57 ± 1.39) or the BMI (20.75 ± 1.82), (19.47 ± 2.27). Bone age was significantly higher in the former group (17.45 ± 1.50) compared the later one (13.20 ± 2.18).
There was no significant difference between patients with normal pituitary response to GnRH in weight SDS (-2 ± 1.11) versus (-2.20 ± 0.95), height SDS (-2.46 ± 1.57) versus (-2.55 ± 1.01), weight/height SDS (0.57 ± 1.57) versus (0.57 ± 1.30), sitting height SDS (-2.93 ± 1.69) versus (-3.63 ± 1.04) or BMI (19.71 ± 2.25) versus (19.29 ± 2.35) compared to poor pituitary response patients. Also there was no significant difference in bone age (13.28 ± 2.41) versus (13.15 ± 2.12) between both groups.
No significant difference between patients with normal testicular response to GnRH in weight SDS (-2.17 ± 0.92) versus (-2.21 ± 1.01), height SDS (-2.33 ± 0.78) versus (-2.65 ± 1.12), weight/height SDS (0.27 ± 0.42) versus (0.70 ± 1.55), sitting height SDS (-3.66 ± 1.06) versus (-3.61 ± 1.09) or BMI (19 ± 1.53) versus (19.43 ± 2.70) compared to poor testicular response patients. Also there was no significant difference in bone age (13.17 ± 1.44) versus (13.15 ± 2.35) (P=989) between both groups.
Hormonal profile:
Basal serum LH and T levels in delayed pubertal patients (1.53 ± 1.52, 1.41 ± 1.90) were significantly lower than normal pubertal patients (2.87 ± 2.07, 4.73 ± 3.38) respectively, yet serum FSH levels were not significantly different between both groups (1.73 ± 1.14, 2.5 ± 0.57).
While comparing the hormonal profile in patients with poor pituitary response basal and poststimulation LH (0.71 ± 0.36, 2.52 ± 2.07), FSH (1.19 ± 0.64, 2.74 ± 2.42) and T (0.54 ± 0.88, 0.83 ± 0.91) were significantly lower compared to normal pituitary response level of basal and poststimulation LH (2.62 ± 1.80, 20.61 ± 11.82), FSH (2.45 ± 1.28, 10.3 ± 8.50) and T (2.56 ± 3.30, 5.32 ± 2.89).
In the remaining two subgroups there was no significant difference in basal and poststimulation LH (0.57 ± 0.25, 1.84 ± 1.75)( 1 ± 0.43, 3.88 ± 2.15), FSH (0.96 ± 0.48, 3.26 ± 2.84)(1.7 ± 0.71, 1.7 ± 0.57) between patients with poor versus good testicular response to LHRH, while T level was significantly higher basal and lower poststimulation in poor (0.73 ± 1.01, 0.28 ± 1.16) versus good ( 0.12 ± 0.04, 1.92 ± 0.77) testicular response respectively.
Patients were classified according to their serum ferritin levels into 2 groups:
3. Patients with serum ferritin <2000: included 26 patients (67%).
4. Patients with serum ferritin >2000: included 13 patients (33%).
There was earlier age at diagnosis in patients with serum ferritin >2000 (14.15 ± 12.80) compared to patients with serum ferritin <2000 (22.46 ± 17.06), while there was no significant difference in both groups as regards the age, duration on regular transfusion, duration on regular chelation and transfusion index in the last year.
There was no significant difference in wt SDS, ht SDS, wt/ht SDS, sitting ht SDS, BMI or bone age between both groups. On comparing the hormonal profile in the two groups there was no significant difference in basal and poststimulation LH (1.93 ± 1.83, 13.32 ± 11.56) versus (1.48 ± 1.41, 9.21 ± 15.75), FSH (2.06 ± 1.07, 6.61 ± 6.40) versus (1.55 ± 1.11, 5.35 ± 7.71and T (2.14 ± 2.68, 3.57 ± 3.44) (1.76 ± 2.3, 2.34 ± 2.86) in patients with serum ferritin higher compared to those lower than 2000 ng/dl.
Patients were classified according to their chelation compliance into 2 groups:
3. Patients with good chelation compliance: included 17 patients (43.5%).
4. Patients with poor chelation compliance: included 22 patients (56.5%).
There was no significant difference in age, age at diagnosis, duration on regular transfusion, duration on regular chelation or transfusion index in the last year between the two groups. Also there was no significant difference in the anthropometric data in both groups. While there were significant lower mean and last serum ferritin in patients with good chelation compliance (1535.75 ± 917.76, 1414.63 ± 1168.26) compared to (2590.62 ± 1869.1, 2501.48 ± 1918.85) in poor chelation compliance patients. While on comparing the hormonal profile in relation to chelation compliance, there was no significant difference in basal and poststimulation LH (2.13 ± 2.08, 14.39 ± 12.84) versus (1.51 ± 1.33, 10.14 ± 13.25), FSH (2.11 ± 0.94, 5.88 ± 4.29) versus (1.70 ± 1.19, 6.38 ± 8.23) and T (2.09 ± 2.55, 3.73 ± 3.29) versus (1.93 ± 2.56, 2.73 ± 3.26) in patients with good compared to those with poor chelation compliance.
Patients were classified according to their type of chelation treatment into 3 groups:
4. Patients on oral iron chelators (deferiprone): included 26 patients (67%).
5. Patients on desferrioxamine included 9 patients (23%).
6. Patients on both oral and injection (combined treatment): included 4 patients (10%).
There was significant difference in the age of patients in the three groups which was the highest in patients on combined therapy (25.38 ± 8.50) compared to those on deferiprone (19.15 ± 3.93) and those on desferrioxamine (18.85 ± 4.66), while there was no significant difference in age at diagnosis, duration on regular transfusion, duration on regular chelation or transfusion index last year in the three groups. There was also no significant difference in the anthropometric data in the three groups. On comparing the hormonal profile, There was no difference in either basal or poststimulation LH, FSH or T between the deferiprone (1.74 ± 1.77, 13.08 ± 14.70), (1.94 ± 1.18, 7.14 ± 7.76), (1.68 ± 2.28, 3.01 ± 3.17), the deseferrioxamine (1.79 ± 1.73, 6.39 ± 6.01), (1.52 ± 0.73, 3.04 ± 0.96), (2.42 ± 2.95, 2.0 ± 3.72) or the combined therapy (1.85 ± 0.34, 19.4 ± 8.49), ( 2.6 ± 1.56, 7.45 ± 6.43) (3.7 ± 3.96, 5.05 ± 3.75).
Semen analysis was done for pubertal males and the parameters of sperm count, active motility of sperms and percentage of abnormal sperm forms were within the normal range in most patients, only two patients had abnormal semen parameters.
There was no significant correlation between semen parameters and demographic data, transfusion data or anthropometric measurements. There was significant negative correlation between abnormal sperm forms and basal FSH level, while there was no significant correlation between other hormonal levels and semen parameters.