Evaluation of growth, puberty and endocrine dysfunctions in relation to iron overload in multi transfused Indian

Rashid H Merchant1, Amruta Shirodkar, Javed Ahmed

  • 1Dr. Balabhai Nanavati Hospital, Vile Parle (W), Mumbai 400056, India. deandoc2000@hotmail.com

Insights

Growth abnormalities and endocrine dysfunction are common in multi-transfused children with Thalassemia Major. Early detection and treatment are crucial for preventing permanent damage.

Area of Science:

  • Pediatrics
  • Endocrinology
  • Hematology

Background:

  • Thalassemia Major requires frequent blood transfusions, leading to iron overload.
  • Iron overload can cause significant endocrine and growth complications in affected children.

Purpose of the Study:

  • To assess the prevalence of growth abnormalities and endocrine dysfunction in multi-transfused Thalassemia Major patients.
  • To correlate these findings with body iron stores.

Main Methods:

  • Cross-sectional study of 35 Thalassemia Major patients (aged 13-24 years).
  • Clinical assessment of growth and puberty.
  • Laboratory evaluation of hormone levels (FSH, LH, testosterone, estradiol, TSH, PTH, Vitamin D, IGF-1).

Main Results:

  • High prevalence of short stature (57.14%) and failure to attain puberty (60%).
  • Significant rates of primary amenorrhea (87.5% in girls), hypogonadism (low testosterone/estradiol), and altered thyroid/parathyroid function.
  • Low IGF-1 levels (51.43%) and Vitamin D deficiency (92.8% of those with high PTH) were observed.

Conclusions:

  • Short stature and hypogonadism are frequent in multi-transfused Thalassemia Major patients.
  • Vigilant clinical and hormonal evaluation is necessary for early detection and management of endocrine dysfunction.
  • Adequate chelation therapy from early life is recommended to prevent endocrine gland damage.
Abstract

Related Concept Videos

Role of Hematopoietic Growth Factors01:28

Role of Hematopoietic Growth Factors

Hematopoietic growth factors are molecules that regulate the differentiation rate of hematopoietic stem cells (HSCs). Erythropoietin (EPO), primarily produced by the kidneys, plays a crucial role in erythrocyte production. When oxygen levels in the blood are low, EPO is released into the bloodstream, reaching the bone marrow, where it stimulates HSCs to differentiate and mature into erythrocytes, which are vital for oxygen transport.
Thrombopoietin (TPO), mainly released by the liver,...
Bone Marrow Sampling and Transplants01:22

Bone Marrow Sampling and Transplants

Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy the...
Factors Affecting Erythropoiesis01:24

Factors Affecting Erythropoiesis

The cardiovascular system regulates the number of erythrocytes in the bloodstream to ensure optimal oxygen transport. It also prevents over-proliferation of these cells, which helps to maintain blood viscosity and flow rate.
Several factors influence the erythrocyte production rate, with tissue oxygen level being among the most critical. Intense exercise or high altitudes can cause tissue hypoxia, which triggers the kidneys to release more erythropoietin (EPO) into the bloodstream.
EPO then...
The Early Endosome: Endocytosis of Transferrin01:28

The Early Endosome: Endocytosis of Transferrin

Essential proteins such as insulin or low-density lipoprotein (LDL) and micronutrients such as iron enter a eukaryotic cell through receptor-mediated endocytosis. Subsequently, the early endosomes fuse with the vesicles containing such receptor-ligand complexes and play a vital role in sorting the incoming ligands and receptors. While the ligands are either degraded inside the vesicle or released into the cytosol, their receptors are returned to the plasma membrane for further rounds of...
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Cirrhosis I: Introduction01:23

Cirrhosis I: Introduction

Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...