Cytokines and beta-cell destruction

Egypt J Pediatr Allergy Immunol 2004; 2(2): 77-8

Craniofacial proportions and anthropometric measurements among growth hormone deficient Egyptian children

Introduction: Untreated children with growth hormone deficiency (GHD) have typical somatic features, including short stature, acromicria and distinctive craniofacial features including small head circumference. Patients and Methods: By using a cross sectional study design, we investigated the effect of GHD on craniofacial growth with photographic facial morphometrics & various anthropometric measurements, in 20 children with GHD compared with 20 healthy children and normal first degree relatives of the same age and sex group. Results: Untreated children with GHD had retarded facial height & width (

Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study

IMPORTANCE Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development. OBJECTIVE This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. DESIGN AND PARTICIPANTS This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. RESULTS TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. CONCLUSIONS AND RELEVANCE A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life

An ICET- a survey on hypoparathyroidism in patients with thalassaemia major and intermedia: A preliminary report

PubMedID: 29350657Hypoparathyroidism (HPT) is a rare disease with leading symptoms of hypocalcemia, associated with high serum phosphorus levels and absent or inappropriately low levels of parathyroid hormone (PTH). In patients with thalassemias it is mainly attributed to transfusional iron overload, and suboptimal iron chelation therapy. The main objectives of this survey were to provide data on the prevalence, demographic and clinical features of HPT in thalassemia major (TM) and intermedia (TI) patients living in different countries, and to assess its impact in clinical medical practice. A questionnaire was sent to all Thalassemia Centres participating to the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescence 436 V. De Sanctis, A.T. Soliman, D. Canatan, et al.Medicine (ICET-A) Network.Seventeen centers, treating a total of 3023 TM and 739 TI patients, participated to the study. HPT was reported in 206 (6.8%) TM patients and 33 (4.4%) TI patients. In general, ages ranged from 10.5 to 57 years for the TM group and from 20 to 54 years for the TI group. Of the 206 TM patients and 33 TI patients with HPT, 117 (48.9%) had a serum ferritin level >2.500 ng/ml (54.3% TM and 15.1% TI patients) at the last observation. Hypocalcemia varied in its clinical presentation from an asymptomatic biochemical abnormality to a life-threatening condition, requiring hospitalization. Calcium and vitamin D metabolites are currently the cornerstone of therapy in HPT. In TM patients, HPT was preceded or followed by other endocrine and non-endocrine complications. Growth retardation and hypogonadism were the most common complications (53.3% and 67.4%, respectively). Although endocrine complications were more common in patients with TM, non-transfused or infrequently transfused patients with TI suffered a similar spectrum of complications but at a lower rate than their regularly transfused counterparts. In conclusion, although a large international registry would help to better define the prevalence, comorbidities and best treatment of HPT, through the result of this survey we hope to give a clearer understanding of the burden of this disease and its unmet needs. HPT requires lifelong therapy with vitamin D or metabolites and is often associated with complications and comorbidities.Therefore, it is important for endocrinologists and other physicians, who care for these patients, to be aware of recent advances of this disorder. © Mattioli 1885.BC Children’s Hospital Foundation Agricultural University of Athens Ain Shams University Sultan Qaboos University King Abdulaziz University Ministry of Health University College London Alexandria University Shiraz University of Medical Sciences Sultan Qaboos University Princess Grace Foundation-USA1 Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy; 2 Department of Pediatrics, Division of Endocrinology, Alexandria University Children’s Hospital, Alexandria, Egypt; 3 Director of Thalassemia Diagnosis Center of Mediterranean Blood Diseases Foundation, Antalya, Turkey; 4 Department of Pediatrics, Ain Shams University, Cairo, Egypt; 5 Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; 6 Department of Haematology, College of Medicine and Health Sciences, Sultan Qaboos University, Sultanate of Oman; 7 King Abdullah University Hospital, Amman, Jordan; 8 Thalassemia Unit, Nicosia, Cyprus; 9 Division of Pediatric and Adolescent Endocrinology, Paedi Center for Specialized Pediatrics, St. George’s University Medical School at the University of Nicosia, Cyprus; 10 Department of Endocrinology, Whittington Hospital, University College London, London, UK; 11 Professor, Pediatric Hemato-Oncology, Christian Medical College and Hospital, Ludhiana, Punjab, India; 12 Department of Pediatrics, Dayanand Medical College & Hospital Ludhiana, Ludhiana, India; 13 Çukurova University, Medical Faculty, Department of Pediatric Hematology, Adana, Turkey; 14 Department of Pediatrics, Endocrinology Unit, Alexandria University Children’s Hospital, Egypt and Child Health Department, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman; 15 Head of Pediatric Endocrine Unit, Department of Child Health, Sultan Qaboos University Hospital, Al-Khoud, Sultanate of Oman; 16 Varna Expert Center for Coagulopathies and Rare Anemias,Varna, Bulgaria; 17 Department of Paediatrics, University Malaya Medical Center, Malaysia; 18 National Center for Cancer Care and Research, Medical Oncology Hematology Section HMC, Doha, Qatar; 19 Endocrinology and Metabolism Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; 20 Princess Rahma Teaching Hospital, Amman, Jordan; 21 Thalassemia Unit, Maternal and Child Department, Garibaldi Hospital, Catania, Italy; 22 Department of Haematology, Thalassaemia and Prenatal Diagnosis Regional Center, Pugliese-Ciaccio Hospital, Catanzaro, Italy; 23 Department of Paediatrics, Pugliese-Ciaccio Hospital, Catanzaro, Italy; 24 Thalassemia Unit, Umberto 1° Hospital, Siracusa, Italy; 25 Primary Health Care, Ministry of Health, Alexandria, Egypt; 26 Department of Pediatrics, Hematology Unit, Faculty of Medicine, University of Alexandria, Egypt and Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman; 27 Head, Division of Pediatric Hematology Oncology, Deputy Chair of Hematology and Head, Section of Hematology Research Lab, King Fahd Medical Research Center, Department of Hematology Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia; 28 Emeritus Director in Pediatrics, Children’s Hospital “Santobono-Pausilipon”, Naples, Italy; 29 Pediatric Hematology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman and Department of Pediatrics, Alexandria University Children’s Hospital, Egypt; 30 Department of Pediatrics, Ain Shams University, Cairo, Egypt; 31 First Department of Paediatrics, University of Athens, Athens, Greec

For Debate: Assessment of HbA1c in Transfusion Dependent Thalassemia Patients

At present, assessment of haemoglobin A1c (HbA1c) is widely used for the diagnosis and monitoring of treatment in diabetes mellitus (DM). However, the HbA1c level is affected by many factors such as those influencing the lifespan of red blood cells and the structure, function and amount of normal HbA. Therefore, the clinical significance of HbA1c assessment in thalassemia patients needs careful consideration, especially in transfusion dependent thalassemia patients (TDT) in whom circulating Hb is that of blood donors. Preliminary reports have documented that HbA1c estimation in efficiently transfused patients seems valuable in diagnosis and monitoring of treatment in DM and other glucose disturbances in TDT patients. Herein, a short review of HbA1c measurement in anemias, blood transfusions and hemoglobinopathies, and the debate of the credibility of Hb A1c assessment in TDT patients is reported. Copyright© of YS Medical Media ltd

The effect of calcium supplementation during pregnancy on fetal and infant growth: a nested randomized controlled trial within WHO calcium supplementation trial.

OBJECTIVE: To evaluate whether prenatal calcium supplementation affects fetal and infant growth during the first year of life. METHODS: Ninety-one pregnant women and 159 mothers and their infants enrolled beginning before 20 weeks gestation, and women received daily supplements containing either 1.5 g calcium or placebo. Women were examined by ultrasound at 20, 24, 28, 32 and 36 weeks to evaluate fetal biometry. During the first year after delivery, sub-groups of infants born from mothers participating in the trial were examined to assess infant growth. Anthropometric measurements of the infants were assessed. Mothers were inquired about lactation patterns, morbidities of the infants, separation from the mother, and admission to hospital. RESULTS: Ultrasound measurements of fetal biometry did not show any differences between fetuses whose mothers received calcium supplementation during pregnancy and those who received placebo. Concerning infant growth, the mean weight and head circumference of infants born to calcium-supplemented mothers were similar to those born to placebo-supplemented mothers during the first year of life. The mean mid-arm circumference and mean length were significantly higher in the infants of the calcium group at sixth and ninth month, respectively. But, at 12 months, there were no significant differences in any of the anthropometric measurements. CONCLUSION: Calcium supplementation during pregnancy of women with low calcium intake does not have a noticeable impact on fetal and infant growth during the first year of life

Behavioral impact of sickle cell disease in young children with repeated hospitalization

Background: Sickle cell disease (SCD) in children with a history of repeated hospitalization is distressing for children as well as their parents leading to anxiety and has negative effects on the psychological state of children and their families. Objective: The aim of the study was to determine the overall effect of SCD on the behavior of young children age 1½ to 5 years old who had repeated history of hospitalization, compared to a control group of healthy children attended a vaccination clinic. Patients and Methods: Thirty-five children of age 1½ to 5 years who have SCD and repeated history of hospitalization were recruited from pediatric clinic as the study group and matched with same number of healthy children who attended vaccination clinic, as a control group. Both groups were administered the child behavior checklist (CBCL) 1½ to 5 years and diagnostic and statistical (DSM)-oriented scale. Behavior data were collected through a semi-structured questionnaire. Results: Children who have SCD had statistically significant behavioral changes on CBCL compared to the control group: Anxiety/depression (65.2 vs. 55.1; P < 0.001), somatic complaint (66.7 vs. 54.4; P < 0.001) withdrawn (63.4 vs. 53.2; P < 0.001), aggressive behavior (60.4 vs. 56; P=0.04), and internalizing symptoms (64.7 vs. 51.5; P < 0.001), respectively. The DSM scale showed that children with SCD scored significantly higher in pervasive developmental disorder compared to the control group (60.9 vs. 53.9; P < 0.001) respectively. Conclusion: Children with SCD who had history of repeated hospitalization are at an increased risk of developing behavioral problems. Psychological counseling, social support, and proper pain management could minimize these behavioral consequences

Endocrine profile of β-thalassemia major patients followed from childhood to advanced adulthood in a tertiary care center

Aim: Chronic iron overload resulting from frequent transfusions, poor compliance to efficient chelation therapy and chronic liver disease is basically responsible for the most severe complications of thalassemia major (TM). Before conventional treatment, TM was entirely childhood disease with a very short survival. Today, survival improved to 40-50 years and becomes a prevalent disease of adulthood and in the near future it will be one of senility. Furthermore, clinical phenotype of TM is changing with age and appearance of severe complications from the heart and endocrine glands that require special health care from well-informed specialists. Objectives: The aims of our study were to: (1) Imprint the clinical profile of long-lived TM patients; (2) evaluate retrospectively the cumulative incidence of endocrine diseases; (3) identify potential risk factors; and (4) orient the physicians in the modified clinical phenotype and the relative patients&apos; health needs. Design: A retrospective cross-sectional study followed from childhood to adulthood by the same physician in a tertiary thalassemia clinic. Participants: Forty-three long-lived TM patients (mean age: 50.3 ± 10.8 years; range: 45.8-59.5 years; 23 females) were studied. Patients and Methods: An extensive medical history, with detailed clinical and laboratory data, endocrine complications, and current treatments, was obtained. Results: The data indicate that 88.4% of adult TM patients suffered from at least one endocrine complication. The majority of patients developed endocrine complications in the second decade of life when serum ferritin level was very high (12/23 TM female and 8/20 TM male patients, the serum ferritin levels at the diagnosis were above 5.000 ng/ml). Conclusions: These data underline that endocrine and bone complications in adult TM patients are highly prevalent and necessitate close monitoring, treatment, and follow-up. Physicians&apos; strategies to optimize chelation therapy include identifying patients who are at risk for developing organ damage, developing chelation plans, promoting compliance, and educating patients. Several clinical aspects remain to be elucidated such as growth and impairment of glucose tolerance in relation to hepatitis C virus infection. Furthermore, affordable worldwide-established long-term treatment protocols for hypogonadism and osteoporosis are needed

Review and recommendations on management of adult female thalassemia patients with hypogonadism based on literature review and experience of ICET-A network specialists

Background: Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder. Also to be aware of the side effects, contraindications and monitoring of sex steroid therapy. In this paper, practical ICET-A recommendations for the management of hypogonadism in adult females with TM are addressed. Methods: In March 2015, the Coordinator of the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) conducted a two-step survey to assess the attitudes and practices of doctors in the ICET-A network taking care of adult female TM patients with hypogonadism. They were clinically characterized by the absence of pubertal development or discontinuation or regression of the maturation of secondary sex characteristics, and biochemically by persistent low FSH, LH and estradiol levels. Recently a supplementary survey on adult female hypogonadism in TM was undertaken within the ICET-A network. Results: The completed questionnaires were returned by 16 of 27 specialists (59.2%) following 590 female TM patients over the age of 18 years; 315 patients (53.3%) had hypogonadism, and only 245 (74.6%) were on hormone replacement therapy (HRT). Contraceptive oral pills (COC) were the first treatment choice in 11 centers (68.7%). A wide range of COCs was used with different progestin contents. In general, the patients' compliance to treatment was reported as good in 81.2 % of centers. The frequency of required tests for follow-up HRT, in addition to the regular check-up for thalassemia, was variable in the participating centers. Conclusions: Doctors taking care of TM patients should have sound knowledge of the pathophysiology of hypogonadism in adult females with TM. They should know the potential effects of HRT including advantages and disadvantages of estrogen and progestins. Moreover, they should keep in consideration the emotional needs of these patients dreaming of attaining a full pubertal development