Mohamed El Kholy

Ain Shams University, Al Qāhirah, Al Qāhirah, Egypt

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Publications (33)36.46 Total impact

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    ABSTRACT: The VIII ICET-A International Symposium was held in Muscat (Sultanate of Oman) on the 20th of December, 2014. The symposium included four sessions on a wide range of topics covering growth disorders and endocrine complications in thalassaemia. Despite the fact that endocrine complications are very common in multi-transfused thalassaemia patients a recent survey conducted by the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) in 2014 in Acitrezza (Catania, Italy) showed that the major difficulties reported by hematologists or pediatricians experienced in thalassaemias or thalassaemia syndromes in following endocrine complications included: Lack of familiarity with medical treatment of endocrine complications, interpretation of endocrine tests, lack of collaboration and on-time consultation between thalassaemic centres supervised by haematologists and endocrinologists. Endocrinal monitoring of growth, pubertal development, reproductive ability and endocrine function in general are essential to achieve a good quality of life as well as controlling the pain which results from the defects of bone structure, all of which increase with the age of patients. Such comprehensive care is best provided by coordinated, multidisciplinary teams working in expert centres. The multidisciplinary team must include an endocrinologist, preferably someone experienced in the management of hormonal deficiencies caused early in life by transfusion-induced iron overload.
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    Mohamed El Kholy
    Egyptian Journal of Medical Human Genetics 12/2014; 87(1). DOI:10.1016/j.ejmhg.2014.10.005
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    ABSTRACT: The American Academy of Pediatrics recommends that young people between the ages of 11 and 21 years should be seen annually by their pediatricians, since annual checkups can be an important opportunity for health evaluation and anticipatory guidance. Parents of infants and young children are accustomed to regularly visiting a pediatrician for their child's checkups. Unfortunately, when children reach the teen years, these annual checkups may decrease in frequency. In routine check-ups and medical office visits, particular attention should be paid to the possibility of a developmental or endocrine disorder. Early diagnosis and treatment may prevent medical complications in adulthood and foster age-appropriate development. Our purpose is to acquaint readers with the concept, based on current scientific understanding, that some endocrine disorders may be associated with a wide range of deleterious health consequences including an increased risk of hypertension and hyperlipidemia, increased risk of coronary artery disease, type 2 diabetes, significant anxiety and lack of self-esteem. Understanding the milestones and developmental stages of adolescence is essential for pediatricians and all other health providers who care for adolescents. Treating adolescents involves knowledge of a variety of medical, social and legal information; in addition, close working relationships must be established within the adolescent's network to create an effective care system. In summary, we underline the importance of a periodic endocrine checkup in adolescents in order to identify endocrine problems early and develop an approach to treatment for those patients who need help during this time. Indications for endocrine referral for professional and other healthcare providers are also included. These lists are clearly not intended to be comprehensive, but will hopefully serve as a guide for specific clinical circumstances.
    Iranian Journal of Endocrinology and Metabolism 11/2014; 18(1):27-37. DOI:10.4103/2230-8210.145055
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    ABSTRACT: Background Abdominal obesity is a strong determinant of obesity related metabolic complications. Data about pre-pubertal children are scarce. The aim of this study is to assess the presence of insulin resistance using different insulin sensitivity indices and investigate its relationship with abdominal fat distribution by Dual energy X-ray absorptiometry scan (DXA). Secondary outcome is to determine the frequency of the metabolic syndrome components. Subjects and methods Twenty-three pre-pubertal obese children were recruited (14 females, 9 males). Height, weight, body mass index (BMI), waist and hip circumferences, waist to hip ratio, and blood pressure were measured. Fasting blood samples were withdrawn for glucose, insulin, lipid profile, thyroid and liver functions. Patients underwent oral glucose tolerance testing (OGTT) and DXA scan for body composition. Insulin sensitivity was determined using homeostasis model assessment for insulin resistance (HOMA-IR), fasting glucose to insulin ratio, Matsuda, and Cederholm indices. Results All patients had BMI, waist circumference, and DXA trunk fat more than 2 SDS. Mean fasting glucose, insulin, fasting glucose to insulin ratio, 120 min glucose and HOMA-IR were within normal limits, but mean Matsuda and Cederholm indices exceeded cut off limits. Dyslipidaemia was detected in 13 patients (56.5%), disturbed glucose homeostasis in 8 patients (34.8%), and systolic hypertension in 1 patient (4.3%). Metabolic syndrome diagnosis was established in three patients (13%). More insulin resistant patients were detected by Matsuda index. Trunk fat SDS correlated with Matsuda and Cederholm indices only. Conclusion Dysglycaemia and dyslipidaemia are common among pre-pubertal obese children. Insulin sensitivity indices based on OGTT are superior to fasting indices in identifying at risk children. OGTT should be included in assessing obese children with BMI > 2 SDS. DXA scanning has limited value for this purpose in clinical settings.
    Egyptian Journal of Medical Human Genetics 07/2014; DOI:10.1016/j.ejmhg.2014.03.002
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    ABSTRACT: Children with thalassemia are living longer due to better care. Physicians dealing with this group of patients now have to contend with new challenges resulting from iron overload. Endocrine complications represent the most common morbidities encountered. To provide a better quality of life, these complications have to be addressed in a consistent way. For this purpose, we have compiled a set of recommendations to help physi-cians provide the best care possible to these patients.
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    ABSTRACT: Abstract Children with thalassemia are living longer due to better care. Physicians dealing with this group of patients now have to contend with new challenges resulting from iron overload. Endocrine complications represent the most common morbidities encountered. To provide a better quality of life, these complications have to be addressed in a consistent way. For this purpose, we have compiled a set of recommendations to help physicians provide the best care possible to these patients.
    Journal of pediatric endocrinology & metabolism: JPEM 05/2014; 27(9-10). DOI:10.1515/jpem-2013-0444 · 0.71 Impact Factor
  • Mohamed El Kholy, Heba Elsedfy, Nermine Amr
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    ABSTRACT: Rates of overweight and obesity are continually rising worldwide. Recent data show that the highest prevalence rates are reported from regions in the Middle East, North Africa, and Asia. Excess weight is a major contributor to cardiovascular disease, type 2 diabetes, and premature death. Obese children and adolescents are at increased risk of developing obesity related co-morbidities before reaching adulthood. Six of the top ten countries with the highest prevalence of diabetes are Arab speaking countries located in the Middle East and North Africa. This review summarizes the magnitude of childhood and adolescent obesity and its consequences in the Middle East and North Africa. Key words: Adolescents, obesity, epidemiology, co-morbidities.
  • Mohamed El Kholy, Nermine Hussein Amr, Heba Elsedfy
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    ABSTRACT: Background/Aim: Growth hormone insensitivity syndrome (GHIS) is a spectrum of disorders. Laron syndrome was the earliest discovered. Insulin-like growth factor 1 (IGF-1) therapy is used to improve growth. IGF-1 has diverse effects on the growth of body organs. We aim to assess the long-term effects of IGF-1 therapy in patients with GHIS particularly on adiposity and acral growth. Methods: Six patients (5 with Laron syndrome and 1 with type 1A growth hormone deficiency) were followed for a mean (±SD) of 8.2 ± 1.8 years. Mean age at start of therapy was 7.6 ± 4.1 years. Anthropometric evaluation including growth of hand, foot, ear, and skin folds, and assessment of internal organ growth were done. Results: Hand and foot sizes improved significantly, especially when treatment was initiated early. Prominent effects on adiposity were observed, reflected by increment in body mass index standard deviation score (SDS) and skin fold SDS. Mean height, height velocity, sitting height, and head circumference SDS improved with therapy. A significant increase in spleen and right kidney was appreciated. Conclusion: IGF-1 therapy improves growth in GHIS. The hand and foot sizes increase significantly with therapy, and can even normalize with early initiation of treatment. Ear length further improves with therapy. Other effects include increase in adiposity and internal organ growth. © 2014 S. Karger AG, Basel.
    Hormone Research in Paediatrics 03/2014; 81(4). DOI:10.1159/000357267 · 1.71 Impact Factor
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    ABSTRACT: Abstract: Introduction: Constitutional delay of growth and puberty (CDGP) is a common cause of psychosocial upset among adolescents and their families. Concerns about reduced final height often urge patients to ask for urgent treatment rather than to wait for observation. Aim: The main objective is to evaluate the concerns, knowledge, understanding, and expectations of a group of children with CDGP and their families. Secondary objective is to study the auxological and socioeconomic characteristics of the patients. Patients and Methods: Forty nine patients with CDGP were included. Fifteen were followed for two years, and seven until final height. Patients and parents completed a designed question sheet to identify their concerns, knowledge, expectations from treatment, and willingness to follow up for observation. Socioeconomic standard scoring and anthropometric evaluation were performed. Results: 59.2% presented because of the concern of the whole family. There was a delay of 1.8 years between the time when patients were concerned about short stature and/or delayed puberty and presentation to clinic The delay was greatest in patients who stopped following up. Twenty seven patients (55.1%) were of low socioeconomic background, 17 (34.7%) were medium low, and 5 (10.2%) were medium high. 69.4% of patients were concerned about their height, not puberty. Two thirds were not convinced that shortness was not due to growth hormone deficiency and that treatment if needed would be sex hormones. 69.4% were not convinced to follow up without treatment. Conclusion: Short stature rather than late puberty is usually the reason for consultation in CDGP. Incomplete understanding of the condition among families and dissatisfaction with the treatment options available remains a problem even after detailed explanation. Extra effort is needed to raise the awareness and avoid the adverse psychosocial sequels in patients with CDGP. Keywords: Constitutional delay of growth and puberty, psychosocial satisfaction
    03/2014; 2(1):26-32. DOI:10.12970/2310-9971.2014.02.01.5
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    ABSTRACT: Un approccio pratico per la valutazione clinica e lo score delle striae distansae nell'adolescente (II parte)
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    ABSTRACT: We believe that the role of liver iron overload in IGF-1 deficiency should be further evaluated by MRI assessment of liver iron concentration (LIC) and not with serum ferritin levels. In addition, the role of chronic active hepatitis C and liver function impairment necessitates more extensive studies. Finally, given the high prevalence of hormonal deficiencies and the non-specificity of clinical signs and symptoms, a systematic annual endocrine referral is recommended in TM patients. It is advisable to define multidisciplinary cost-effective protocols in which first-line specialists order baseline pituitary function tests and endocrinologists do the clinical evaluation, interpret the hormonal results and evaluate the possible related complications.
    Mediterranean Journal of Hematology and Infectious Diseases 01/2014; 6. DOI:10.4084/MJHID.2014.074
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    ABSTRACT: It is a common knowledge that GH exhibits a large number of metabolic effects, involving lipid and glucose homeostasis. The aim of the study was to investigate the effect of one year GH therapy on metabolic parameters and adipokines in GH deficient (GHD) children. Sixteen prepubertal children (11 M and 5 F) with complete GHD (age range: 3.4-14.7 years) and 20 (13 M and 7 F) age and sex-matched healthy children (age range: 4.6-12.3 years) were studied. Blood was collected from patients before starting GH therapy (0.025 mg/kg/day) and one year later, and from healthy children to measure adiponectin, leptin, osteoprotegerin, resistin, interleukin (IL)-6, tumor necrosis factor (TNF)-α levels, and other glucose and lipid metabolism parameters. Adiponectin and resistin levels were significantly higher (49 980 ng/ml vs. 14 790 ng/ml and 11.0 pg/ml vs. 6.3, respectively) in GHD children before GH therapy than in controls. Serum IGF-I levels (p=0.0001) and height SDS (p<0.0001) significantly increased after 12 months' of GH therapy. There was a loss of body fat reflected by a significant decline in tricep (p=0.0003) and subscapular skinfold thickness SDS (p=0.0023). After 12 months, there was a significant rise in insulin (p=0.0052) and leptin levels (p=0.0048) and a significant decrease in resistin (p=0.0312) and TNF-α (p=0.0137). We observed that lipid and glucose metabolisms are only slightly affected in GHD children. Growth hormone replacement therapy affects some factors, such as leptin, resistin and fat mass, suggesting that also in children, GH treatment has a role in the regulation of factors secreted by adipose tissue.
    Hormone and Metabolic Research 12/2013; 46(3). DOI:10.1055/s-0033-1358730 · 2.04 Impact Factor
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    ABSTRACT: In recent years, the issue of osteopenia/osteoporosis in children, adolescents and young adults with thalassaemia major (TM) has attracted much attention because it is a prominent cause of morbidity despite adequate transfusion and iron chelation therapy. The reported frequency of osteoporosis, even in well treated TM patients varies from 13.6% to 50% with an additional 45% affected by osteopenia. The pathogenesis of TM-induced osteoporosis is multifactorial. Genetic and acquired factors play role in demineralization of bones in thalassemia. Osteoporosis is characterized by low bone mass and disruption of bone architecture, resulting in reduced bone strength and increased risk of fractures. The significant predictors of fracture prevalence include male gender, hypothyroidism, age, lack of spontaneous puberty in females, active hepatitis, heart disease and diabetes. The early identification of osteopenia and osteoporosis is of paramount importance. This is because delayed diagnosis and inadequate treatment have led to severe osteoporosis, skeletal abnormalities, fractures, spinal deformities, nerve compression and growth failure. dequate hormonal replacement, has been posponed, Effective iron chelation adequate hormonal replacement, improvement of hemoglobin levels, calcium and vitamin D administration and physical activity are currently the main measures for the management of the disease. The use of bisphosphonates in TM patients with osteoporosis is increasing and their positive effect in improving bone mineral density is encouraging. The recommendations of the International Network on Growth Disorders and Endocrine Complications in Thalassaemia (I-CET) for diagnosis and management of osteoporosis in TM are also briefly included in this review.
    Pediatric endocrinology reviews: PER 12/2013; 11(2):167-80.
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    ABSTRACT: Background: Homozygous loss-of-function mutations in the FOXE1 gene have been reported in several patients with partial or complete Bamforth syndrome (congenital hypothyroidism [CH] with thyroid dysgenesis [usually athyreosis], cleft palate, and spiky hair, with or without choanal atresia and bifid epiglottis). Here, our objective was to evaluate potential functional consequences of FOXE1 mutation in a patient with a similar clinical phenotype. Methods: FOXE1 was sequenced in 8 patients with thyroid dysgenesis. Transient transfection was performed in HEK293 cells using the thyroglobulin (TG) and thyroid peroxidase (TPO) promoters in the luciferase reporter plasmid to assess the functional impact of the FOXE1 mutations. Primary human thyrocytes transfected with wild-type and mutant FOXE1 served to assess the impact of the mutation on endogenous TG and TPO expression. Results: We identified and characterized the function of a new homozygous FOXE1 missense mutation (p.R73S) in a boy with a typical phenotype (athyreosis, cleft palate, and partial choanal atresia). This new mutation located within the forkhead domain was inherited from the heterozygous healthy consanguineous parents. In vitro functional studies in HEK293 cells showed that this mutant gene enhanced the activity of the TG and TPO gene promoters (1.5-fold and 1.7-fold, respectively vs. wild-type FOXE1, P<0.05), unlike the five mutations previously reported in Bamforth syndrome. The gain-of-function effect of the FOXE1-p.R73S mutant gene was confirmed by an increase in endogenous TG production by primary human thyrocytes. Conclusion: We identified a new homozygous FOXE1 mutation responsible for thyroid-function gene activation in a boy whose phenotype is similar to that reported previously in patients with loss-of-function FOXE1 mutations. This finding further delineates the role for FOXE1 in both thyroid and palate development and shows that enhanced gene activity should be considered among the mechanisms underlying Bamforth syndrome.
    Thyroid: official journal of the American Thyroid Association 11/2013; DOI:10.1089/thy.2013.0417 · 3.84 Impact Factor
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    ABSTRACT: Background:Sustained-release GH formulations may provide a strategy for improving treatment compliance and persistence in GH-deficient patients.Objective:To examine efficacy and safety of LB03002, a sustained-release GH formulation for once-weekly administration.Design:Phase III, 12-month, multinational, randomized, open-label, comparator-controlled trial, with a 12-month uncontrolled extension.Patients:Prepubertal GH-treatment-naïve GH-deficient children (mean age 7.8 years)Intervention:Once-weekly LB03002 (N=91) or daily GH (N=87) for 1 year, followed by once-weekly LB03002 for all patients for another year (LB03002 throughout N=87; switched to LB03002 N=80).Outcome measures:Height, height velocity (HV), IGF-I, GH antibodies, and adverse events determined throughout. Primary analysis was non-inferiority of LB03002 versus daily GH at 1 year by ANCOVA.Results:Mean (±SD) HV during year 1 was 11.63 ± 2.60 cm/year with LB03002 and 11.97 ± 3.09 cm/year with daily GH, with respective increases from baseline of 8.94 ± 2.91 cm/year and 9.04 ± 3.19 cm/year. Least square mean HV difference for LB03002 - daily GH was -0.43 cm/year (99% CI -1.45 to 0.60 cm/year). Mean HV also remained above baseline in year 2 (8.33 ± 1.92 cm/year in the LB03002 throughout group and 7.28 ± 2.34 cm/year in the switched to LB03002 group). Injection site reactions occurred more frequently in LB03002-treated patients, but were considered mild to moderate in >90% of cases.Conclusions:Growth response with once-weekly LB03002 in GH-deficient children is comparable to that with daily GH, achieving expected growth rates for 24 months. Once-weekly LB03002 is a strong candidate for long-term GH replacement in GH-deficient children.
    The Journal of Clinical Endocrinology and Metabolism 10/2013; 99(1). DOI:10.1210/jc.2013-2502 · 6.31 Impact Factor
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    ABSTRACT: This review paper provides a summary of the current state of knowledge regarding GHD provides recommendations for the diagnosis and treatment of GHD in adult patients with thalassaemia major (TM). The reported prevalence of adult GHD and /or IGF-I deficiency in TM patients varies from 8% to 44 % in different centers. Because GH treatment requires analysis of many factors, including the effect of treatment on cardiac functions, metabolic parameters and psychosocial functioning, along with safety, ethical considerations, financial cost and other burdens of therapy, stringent diagnostic criteria are needed. The authors report the diagnostic recommendations of the International Study Group of Endocrine Complications in Thalassemia (I-CET) for adult TM patients.The pros and cons of GH treatment must be discussed with each patient, after which GH doses should be individualized and titrated to maximum efficacy with minimal side effects. Prospective studies to monitor potential benefits versus possible side-effects will enable endocrinologists to define recommendations on dosage and the long term effects, particularly on cardiovascular and bone status of GH therapy in adult TM patients.
    Georgian medical news 09/2013;
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    ABSTRACT: Abstract This is an attempt to establish the normal stretched penile length and prevalence of male genital anomalies in full-term neonates and whether they are influenced by prenatal parental exposure to endocrine-disrupting chemicals. A thousand newborns were included; their mothers were subjected to the following questionnaire: parents' age, residence, occupation, contact with insecticides and pesticides, antenatal exposure to cigarette smoke or drugs, family history of genital anomalies, phytoestrogens intake and history of in vitro fertilization or infertility. Free testosterone was measured in 150 neonates in the first day of life. Mean penile length was 3.4±0.37 cm. A penile length <2.5 cm was considered micropenis. Prevalence of genital anomalies was 1.8% (hypospadias 83.33%). There was a higher rate of anomalies in those exposed to endocrine disruptors (EDs; 7.4%) than in the non-exposed (1.2%; p<0.0001; odds ratio 6, 95% confidence interval 2-16). Mean penile length showed a linear relationship with free testosterone and was lower in neonates exposed to EDs.
    Journal of pediatric endocrinology & metabolism: JPEM 03/2013; 26(5-6):1-5. DOI:10.1515/jpem-2012-0350 · 0.71 Impact Factor
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    ABSTRACT: The current management of thalassemia includes regular transfusion programs and chelation therapy. It is important that physicians be aware that endocrine abnormalities frequently develop mainly in those patients with significant iron overload due to poor compliance to treatment, particularly after the age of 10 years. Since the quality of life of thalassemia patients is a fundamental aim, it is vital to monitor carefully their growth and pubertal development in order to detect abnormalities and to initiate appropriate and early treatment. Abnormalities should be identified and treatment initiated in consultation with a pediatric or an adult endocrinologist and managed accordingly. Appropriate management shall put in consideration many factors such as age, severity of iron overload, presence of chronic liver disease, thrombophilia status, and the presence of psychological problems. All these issues must be discussed by the physician in charge of the patient's care, the endocrinologist and the patient himself. Because any progress in research in the field of early diagnosis and management of growth disorders and endocrine complications in thalassemia should be passed on to and applied adequately to all those suffering from the disease, on the 8 May 2009 in Ferrara, the International Network on Endocrine Complications in Thalassemia (I-CET) was founded in order to transmit the latest information on these disorders to the treating physicians. The I-CET position statement outlined in this document applies to patients with transfusion-dependent thalassemia major to help physicians to anticipate, diagnose, and manage these complications properly.
    01/2013; 17(1):8-18. DOI:10.4103/2230-8210.107808
  • Growth Hormone & IGF Research 10/2012; 22:S48. DOI:10.1016/S1096-6374(12)60124-5 · 1.33 Impact Factor