Sexual Maturation in β-Thalassemia Major Patients in Assiut University Hospital

Assessment of Sexual Maturation in β-Thalassemia Major Patients Receiving Iron Chelation Therapy in Assiut University Hospital

cross sectional study to asses sexual maturation in β-Thalassemia Major patients receiving Iron Chelation Therapy in assuit University Hospital and maintenance of 2ry sexual characters and reproduction

Study Overview

• Status: Unknown
• Conditions: β-Thalassemia Major Patients Receiving Chelation Therapy
• Intervention / Treatment: Diagnostic test: FSH((Follicle Stimulating Hormone) and LH (Luteinizing Hormone) hormone for females and Testosterone hormone for males

Detailed Description

Thalassemia refers to a group of inherited diseases characterized by decreased or absent synthesis of normal globin chains . The direct consequence is an imbalance of the alpha and beta globin chain synthesis that results in anemia from ineffective erythropoiesis and hemolysis.

The term thalassemia major refers to the severe form that is often associated with life-long transfusion dependent anemia.

Hypogonadism is the most frequently reported endocrine complication, affecting 70-80% of thalassemia major patients. Hypogonadism is likely to be caused by iron deposits in the gonads, pituitary gland or both.

Hypogonadotropic hypogonadism resulting from iron deposition in the pituitary gonadotrope is more commonly found than gonadal iron deposition in ovaries or testes occurs.

Iron deposition in the anterior pituitary gland can be demonstrated beginning in the first decade of life, but clinical manifestations are usually not evident until the onset of puberty. At the earlier stage, only a diminished gonadotropin reserve with intact gonadotropin pulse was observed .

The direct effect of iron, in particular that of NTBI(non-transferrin-bound iron) on the ovaries and testes is currently unknown. The ovarian reserve is preserved in the majority of female thalassemia patients, even in women with amenorrhea. In males, histological examination of testicular tissues from autopsies demonstrated testicular interstitial fibrosis with small, heavily pigmented, undifferentiated seminiferous tubules and an absence of Leydig cells .

There are three main clinical presentations of the HPG(hypothalamic pituitary gonadal axis)axis derangement in thalassemia major, including delayed puberty, arrested puberty and hypogonadism. Delayed puberty is defined as the absence of any pubertal signs by 14 years in boys and 13 years in girls . Arrested puberty is defined as the absence of further pubertal progression for more than 1 year after puberty has started.

Chelation therapy with desferoxamine before the age of puberty has helped patients to attain normal sexual maturation in some studies but not in others. In a study of 40 patients with transfusion-dependent thalassemia major, 90% of 19 patients who began treatment with desferoxamine before the age of 10 had normal sexual development compared with only 38% of those treated after the age of 10. In contrast, another study reported no difference in the frequency of pubertal maturation when iron chelation therapy was started at the age of 10 or earlier. Serum ferritin levels were still higher than normal in previous studies.

After a period of 5-7 years, 50% of hypogonadal males achieved normal testosterone levels and 32% of amenorrheic women became pregnant, either spontaneously or using in vitro fertilization . With modern medications, iron-induced hypogonadism may be reversible with intensive iron chelation regimens.

• Study Type: Observational
• Enrollment (Anticipated): 100

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 10 years to 16 years (CHILD)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

β-thalassemic Patients aged 10 years and older patients receiving regular blood transfusions in Assiut Univ Hospitals and have chelation therapy.

Description

Inclusion Criteria:

• β-thalassemic Patients aged 10 years and older
• β-thalassemic patients receiving regular blood transfusions
• All patients are on chelation therapy

Exclusion Criteria:

• β-thalassemic patients with major system complications as cardiac ,renal or hepatic.
• Patients not receiving chelation therapy
• Patients with other hemolytic anemia

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
sexual maturation in patient receiving iron chelation; assess of sexual maturation by clinical examination and hormonal studies (FSH.LH,Testosterone)	Diagnostic test: FSH((Follicle Stimulating Hormone) and LH (Luteinizing Hormone) hormone for females and Testosterone hormone for males; assess of sexual maturation by clinical examination and hormonal studies (FSH.LH,Testosterone)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
sexual maturation in patients receiving regular chelation will be compared to patients not receiving chelation helps us to improve quality of life for these patients and have normal sexual life	The present study will be carried out on previously diagnosed transfusion dependent thalassemia patients under chelation therapy in Assiut University children hospital.; patients will be selected and examined clinically to asses thier sexual maturation by measuring presence of secondary sexual characters.; hormonal assesment for patients including FSH,LH,Serum Testosterone.	1 year
calculate body mass index (kg/m^2)	assesment of hieght in meters,weight in kilograms.	1 year

Collaborators and Investigators

• Sponsor: Assiut University

Study record dates

Study Major Dates

• Study Start (ANTICIPATED): April 15, 2019
• Primary Completion (ANTICIPATED): April 15, 2020
• Study Completion (ANTICIPATED): April 15, 2020

Study Registration Dates

• First Submitted: December 4, 2018
• First Submitted That Met QC Criteria: February 19, 2019
• First Posted (ACTUAL): February 20, 2019

Study Record Updates

• Last Update Posted (ACTUAL): February 20, 2019
• Last Update Submitted That Met QC Criteria: February 19, 2019
• Last Verified: February 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Hematologic Diseases; Genetic Diseases, Inborn; Anemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Thalassemia; beta-Thalassemia; Physiological Effects of Drugs; Hormones, Hormone Substitutes, and Hormone Antagonists; Androgens; Follicle Stimulating Hormone; Hormones; Testosterone
• Other Study ID Numbers: Assiut Univ Children Hospitals

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: i hope i can publish my study to help other researchers to get accurate assesment and improve reproduction of these patients

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No