Endocrinopathies complicating transfusion-dependent hemoglobinopathy

Al-Agha, Abdulmoein Eid; Bawahab, Noor; Nagadi, Sarah A; Al‐Ghamdi, Saeed S.; Felemban, Dalia Abdulaziz; Milyani, Asmaa Adel

doi:10.15537/smj.2020.2.24845

Cited by 6 publications

(5 citation statements)

References 19 publications

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“…The high incidence of growth failure, frequently already present preSCT, suggests underlying conditions themselves rather than HSCT may play a large role in growth impairment. Many diagnoses are associated with SS including TM, SCD, Fanconi anemia and several IEI/IEM syndromes [54][55][56][57]. Our study did not show that SS or difference between adult height and MPH was associated with factors as age at HSCT, gender, pubertal stage, diagnosis, GvHD and donor type.…”

Section: Growthcontrasting

confidence: 78%

Late endocrine effects after hematopoietic stem cell transplantation in children with nonmalignant diseases

Kloet

Bense

Stoep

et al. 2022

Bone Marrow Transplant

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The number of children undergoing hematopoietic stem cell transplantation (HSCT) for nonmalignant diseases has increased in recent years. Endocrine complications are common after HSCT for malignant diseases, while little is known about long-term prevalence and risk factors in children transplanted for nonmalignant diseases. We retrospectively evaluated gonadal function, near adult height and thyroid function in 197 survivors of pediatric HSCT for hemoglobinopathies (n = 66), inborn errors of immunity/ metabolism (n = 74) and bone marrow failure disorders (n = 57); median follow-up was 6.2 years (range 3.0-10.5). Gonadal dysfunction occurred in 55% of (post)pubertal females, was still present at last assessment in 43% and was more common after busulfan-than treosulfan-based conditioning (HR 10.6, CI 2.2-52.7; adjusted for HSCT indication). Gonadal dysfunction occurred in 39% of (post)pubertal males, was still present at last assessment in 32% and was less common in those who were prepubertal compared to (post)pubertal at HSCT (HR 0.11; CI 0.05-0.21). Near adult height was more than 2 SDS below mean parental height in 21% of males and 8% of females. Hypothyroidism occurred in 16% of patients; 4% received thyroxin treatment. In conclusion, endocrine complications, especially gonadal dysfunction, are common after pediatric HSCT for nonmalignant conditions. In females, treosulfan seems less gonadotoxic than busulfan. Careful long-term endocrine follow-up is indicated.

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Section: Growthcontrasting

confidence: 78%

Late endocrine effects after hematopoietic stem cell transplantation in children with nonmalignant diseases

Kloet

Bense

Stoep

et al. 2022

Bone Marrow Transplant

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“…Out of the total study of 54 (Age >13 years) subjects, 35.18% (n=19) were found to have hypogonadism, which is higher than the study conducted by Al-Agha et al who showed hypogonadism incidence to be 12.5% (n=15) and affected patients had serum ferritin levels more than 2000 ng/dL. 9 In our study, though no In the above-mentioned studies, no correlation was found between serum ferritin and hypogonadism like our study. Lower prevalence of hypogonadism in above studies is due to better chelation and hyper transfusion.…”

Section: Discussionmentioning

confidence: 54%

Endocrine dysfunction in transfusion dependent thalassemia patients from central India

Roshan Saras,

Anjali Bharani,

Gunvant Singh Eske

et al. 2023

Asian J Med Sci

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Background: Thalassemia refers to a group of genetically inherited diseases characterized by decreased or absent synthesis of normal globin chains resulting in defective globin chains. Most of the available studies in the literature have been done in adults and there is a paucity of studies highlighting the prevalence of hormonal dysfunction in transfusion dependent patients in pediatric age group. We conducted the present study with an aim to estimate the prevalence of hormonal dysfunction in transfusion dependent thalassemia (TDT) patients at a tertiary care center of Central India. Aims and Objectives: The aim of the study was to estimate the prevalence of hormonal dysfunction in TDT patients at a tertiary care center of central India. Materials and Methods: It is descriptive cross-sectional study conducted at tertiary care hospital MGM Medical College, Indore, Madhya Pradesh, conducted over a period of 12 months (August 2021–July 2022). Results: Our study recruited a total of 100 children with age ranging from 9 year to 18 years with the mean age of 13.16±2.86 years. Sixty percent (n=60) of our study population were males and 40% (n=40) were females. The prevalence of hypogonadism was 35.18% analyzed in 54 patients, hypothyroidism was 10%, and diabetes was 5%. Although serum ferritin was very elevated in all patients with endocrine dysfunction; statistically significant association was found between serum ferritin and hypothyroidism (P=0.020). Conclusion: Patients with TDT are often associated with endocrinopathies; most commonly hypogonadism, followed by hypothyroidism and diabetes. Early screening and treatment is necessary to improve their outcome.

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“…Endocrinopathies can develop as a result of direct iron deposition into endocrine glands and have been reported in a few studies [ 5 ]. A French cohort study revealed that 14% of DBA patients developed iron-related endocrine or other organ complications, and an Italian cohort study revealed that 23% of DBA patients developed the same [ 1 , 5 , 6 ]. To help minimize these complications, chelation therapy is often initiated.…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Hypoparathyroidism and Myxedema Coma in a Patient With Diamond-Blackfan Anemia

Ruggiero¹,

Iqbal²,

Akram³

et al. 2021

Cureus

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Diamond-Blackfan anemia (DBA) is a rare genetic condition that presents due to bone marrow failure caused by a dysfunction in ribosomal biogenesis and function. The patients would often require chronic transfusions as treatment, which puts them at high risk for the development of secondary hemochromatosis. This secondary hemochromatosis results in endocrinopathies due to iron deposition into the endocrine glands. We present an interesting case report of a female patient with multiple endocrinopathies due to secondary hemochromatosis resulting from chronic transfusion therapy. Her endocrinopathies included hypothyroidism complicated by myxedema coma and, interestingly, hypoparathyroidism, which has seldom been reported in DBA patients. Early diagnosis and precise treatment of life-threatening conditions like myxedema coma in DBA patients can avoid morbidity and mortality.

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Endocrinopathies complicating transfusion-dependent hemoglobinopathy

Cited by 6 publications

References 19 publications

Late endocrine effects after hematopoietic stem cell transplantation in children with nonmalignant diseases

Late endocrine effects after hematopoietic stem cell transplantation in children with nonmalignant diseases

Endocrine dysfunction in transfusion dependent thalassemia patients from central India

A Rare Case of Hypoparathyroidism and Myxedema Coma in a Patient With Diamond-Blackfan Anemia

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