International Consensus Guideline on the Diagnosis and Management of Endocrine Complications of β and α Thalassemia in Children and Adolescents.

β thalassemia (βT) and α thalassemia (αT) are chronic hemolytic anemias caused by hereditary defects in the β or α chains of hemoglobin, respectively. According to the clinical picture, both forms of thalassemia are subdivided into minor, intermedia, or major. Previous guidelines focused on growth and endocrine dysfunctions in βT major, where the complications reported are consequences of iron toxicity.

Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village….

Congenital adrenal hyperplasia (CAH), if untreated, carries high morbidity and mortality. A higher incidence of CAH is expected in countries where consanguinity is common, such as in the countries of the WHO Eastern Mediterranean Region (EMRO). CAH is managed through lifelong treatment with fludrocortisone and hydrocortisone.

Monitoring Haematocrit in Paediatric Patients Receiving Testosterone Therapy in Arab Countries.

Objectives Testosterone is the main agent used to induce puberty in boys in Arab countries. It is recommended to monitor haematocrit before and during androgen replacement. However, data from single centre studies indicated that this recommendation is rarely practiced by paediatricians compared to adult physicians.

The 2021 European Training Requirements in Paediatric Endocrinology and Diabetes.

The aims of the 2021 European Training Requirements (ETR) in Paediatric Endocrinology and Diabetes (PED) are to (1) provide standards to harmonize training programmes in PED between different European countries, (2) establish clearly defined standards of knowledge and skills required to practice PED at the tertiary care level, (3) foster the development of a network of competent tertiary care centres for PED in Europe and globally, and (4) improve the quality of care for children and adolescents requiring PED services. This ETR in PED specifies the requirements for training institutions, trainers, and trainees. It also provides the detailed syllabus/core content that trainees are expected to achieve in order to become competent independent clinicians in PED.

Timing and regimen of puberty induction in children with hypogonadism: a survey on the practice in Arab countries.

Objectives There are some variations in the practice of puberty induction between different regions; however, data from Arab countries are lacking. We aimed to survey the practice of pediatric endocrinologists in Arab countries on the timing and regimen for puberty induction in girls and boys with hypogonadism. Methods An online questionnaire was emailed to physicians registered in the Arab Society for Paediatric Endocrinology and Diabetes.

Serum visfatin level as a noninvasive marker for nonalcoholic fatty liver disease in children and adolescents with obesity: relation to transient elastography with controlled attenuation parameter.

Background: Obesity is associated with an increased risk of nonalcoholic fatty liver disease (NAFLD). Visfatin is an adipokine produced by visceral fat tissue and liver cells. Transient elastography with controlled attenuation parameter (CAP) noninvasively assesses liver fibrosis and steatosis.

Primary School Performance of Girls with Turner Syndrome: A Transcultural Assessment.

Objectives: We analyzed primary school performance of girls with Turner syndrome (TS) in two distinct countries to ascertain if the cognitive phenotype of TS causes selective learning difficulties.

Methods: The cohort comprised of 44 Czech and 50 Egyptian girls with TS who attended public schools. School reports from grades 1 to 9 were obtained retrospectively from Czech participants with TS.

Screening of Egyptian obese children and adolescents for insertion/deletion (I/D) polymorphism in angiotensin-converting enzyme gene.

Background: /aims: The role of angiotensin-converting enzyme (ACE) gene polymorphism in the development of obesity and hypertension in children has not been widely studied. We aimed to screen Egyptian obese children and adolescents for insertion/deletion (I/D) polymorphism in the ACE gene.

Methods: One hundred forty-two children and adolescents were included (70 with simple obesity and 72 controls).

Anti-Müllerian hormone levels in patients with turner syndrome: Relation to karyotype, spontaneous puberty, and replacement therapy.

Most girls with Turner syndrome (TS) suffer from incomplete sexual development, premature ovarian failure, and infertility due to abnormal ovarian folliculogenesis. Serum anti-Müllerian hormone (AMH) levels reflect the ovarian reserve in females, even in childhood. Thus, we aimed to assess serum AMH levels in girls with TS and its relation to karyotype, spontaneous puberty, and growth hormone (GH) therapy.

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.

Disorders of sex development (DSD) are conditions with an abnormal development of chromosomal, gonadal, or anatomical sex. Sex chromosome DSD involve conditions associated with either numerical or structural abnormalities of the sex chromosomes. This study included patients comprising a wide spectrum of presenting features suggestive of DSD and aimed at studying the frequency of sex chromosome abnormalities among 108 Egyptian DSD patients who presented to the Clinical Genetics and Endocrinology Clinics, National Research Centre (NRC) over the 2-year period of 2013 and 2014.

Vitamin D status in prepubertal children with isolated idiopathic growth hormone deficiency: effect of growth hormone therapy.

Few studies, and with controversial results, analyzed vitamin D status in children before and after growth hormone (GH) treatment. Thus, we aimed to assess vitamin D status in prepubertal children with idiopathic growth hormone deficiency (GHD), and to evaluate the effect of GHD and GH treatment on vitamin D levels. Fifty prepubertal children with isolated GHD were compared with 50 controls.

Serum Chemerin in Obese Children and Adolescents Before and After L-Carnitine Therapy: Relation to Nonalcoholic Fatty Liver Disease and Other Features of Metabolic Syndrome.

Background And Aims: Chemerin plays an important role in metabolic syndrome (MetS) including nonalcoholic fatty liver disease (NAFLD). L-carnitine (LC) may reduce plasma glucose, lipid profile, and improve liver function. The aim of the study was to assess serum chemerin in obese children with suspected NAFLD, the effect of LC on NAFLD grade, chemerin and metabolic profile.

Nutritional rickets: vitamin D, calcium, and the genetic make-up.

Background: The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role.

Dietary fructose intake in obese children and adolescents: relation to procollagen type III N-terminal peptide (P3NP) and non-alcoholic fatty liver disease.

Background: Excessive use of fructose has been incriminated as a risk factor for hepatic steatosis. Procollagen type III N-terminal peptide (P3NP) is a marker for steatohepatitis. Thus, we aimed to assess fructose intake in obese children and its relation to nonalcoholic fatty liver disease (NAFLD) and P3NP.

Serum Pentraxin 3 Fragment as a Noninvasive Marker of Nonalcoholic Fatty Liver Disease in Obese Children and Adolescents.

Background/aims: It was suggested that serum pentraxin 3 (PTX3) levels could differentiate obese children with nonalcoholic steatohepatitis (NASH) from those with simple steatosis. Thus, we aimed to evaluate the clinical utility of serum PTX3 fragment levels in the diagnosis of NASH and the assessment of its severity in obese children with suspected nonalcoholic fatty liver disease (NAFLD).

Methods: Fifty obese children were compared to 25 matched controls.

Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?

Renal anomalies are present in up to 30% of patients with Turner syndrome (TS). Renal ultrasound (U/S) detects anatomical renal anomalies only while renal scintigraphy detects anomalies, detects early renal malfunction, and estimates glomerular filtration rate (GFR). Thus, we aimed to assess frequency of renal abnormalities detected by scintigraphy in comparison to renal U/S in TS patients.

Anthropometric and nutritional parameters in Egyptian children and adolescents with osteogenesis imperfecta.

Background/aims: Patients with osteogenesis imperfecta (OI) present with various degrees of short stature and nutritional disorders. Thus, we aimed to evaluate anthropometric and nutritional parameters in OI children and their variability among various types.

Methods: Eighty-four patients with OI (types I, II, and IV) were subjected to the following anthropometric measurements: standing height (Ht), sitting height (SH), arm span, weight (Wt), and head circumference (HC), with calculation of Ht, SH, Wt, body mass index (BMI), and HC standard deviation scores (SDSs), and relative arm span.

A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expression.

Background: Homozygous loss-of-function mutations in the FOXE1 gene have been reported in several patients with partial or complete Bamforth-Lazarus syndrome: congenital hypothyroidism (CH) with thyroid dysgenesis (usually athyreosis), cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis. Here, our objective was to evaluate potential functional consequences of a FOXE1 mutation in a patient with a similar clinical phenotype.

Methods: FOXE1 was sequenced in eight patients with thyroid dysgenesis and cleft palate.

Iodine deficiency in Egyptian autistic children and their mothers: relation to disease severity.

Background And Aims: Because autism may be a disease of early fetal brain development, maternal hypothyroxinemia (HT) in early pregnancy secondary to iodine deficiency (ID) may be related to etiology of autism. The aim of the study was to assess the iodine nutritional status in Egyptian autistic children and their mothers and its relationship with disease characteristics.

Methods: Fifty autistic children and their mothers were studied in comparison to 50 controls.

Dyslipidemia and hyperinsulinemia in children and adolescents with chronic liver disease: relation to disease severity.

Background: Lipid metabolism is profoundly disturbed in chronic liver diseases (CLD). Moreover, patients with cirrhosis displayed chronically elevated serum insulin (SI) concentrations.

Objectives: The aim of this work was to assess fasting lipid profile (FLP) and SI levels among Egyptian patients with CLD and their relation to severity of liver disease.

Iron homeostasis and serum hepcidin-25 levels in obese children and adolescents: relation to body mass index.

Background/aims: The etiology of the hypoferremia of obesity is unclear. Hepcidin is the body's main regulator of systemic iron (Fe) and has been reported to be elevated in obese patients. Thus, we aimed to assess Fe status and serum hepcidin-25 levels and their relationship with body mass index (BMI) in obese Egyptian children and adolescents.

Hyperandrogenemia in male autistic children and adolescents: relation to disease severity.

Background: It has been suggested that autistic patients have elevated blood androgens, and although signs of precocious puberty have been reported in autistic patients, such a relation has not yet been clarified.

Objectives: To assess serum androgen levels in a group of Egyptian male autistic children and adolescents and their relation to disease severity. In addition, the risk for association of androgens with autism was estimated.

Penile length and genital anomalies in Egyptian male newborns: epidemiology and influence of endocrine disruptors.

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.

Prevalence of multiple forms of autoimmunity in Egyptian patients with Turner syndrome: relation to karyotype.

Our study aimed to investigate: the prevalence of autoantibodies related to organ-specific disease; the prevalence of some autoimmune diseases (AID) in Egyptian Turner syndrome (TS) patients; and the association of autoimmunity with patients' karyotypes. Eighty TS patients were subjected to history, auxological assessment and measurement of antithyroid peroxidase antibody (ATPOAb), antithyroglobulin antibody (ATGAb), anti-tissue transglutaminase IgA antibodies (ATTIgAAb), anti-glutamic acid decarboxylase-65 antibodies (GAD-65-Ab) and anti-adrenal cortex antibodies (AACAb). Of the 80 TS patients, 54 (67.

R620W polymorphism of protein tyrosine phosphatase PTPN22 in Egyptian children and adolescents with systemic lupus erythematosus: relation to thyroid autoimmunity.

Background: Some studies showed associations of the minor T allele of the C1858T single nucleotide polymorphism (SNP) corresponding to the R620W amino acid substitution of protein tyrosine phosphatase (PTPN22) with multiple autoimmune diseases, including systemic lupus erythematosus (SLE).

Objectives: To study the frequency of PTPN22 R620W polymorphism among Egyptian patients with SLE and to test the association of the T allele with autoimmune thyroid disease in such patients.

Methods: Clinical evaluation, measurement of thyroid hormones and antibodies, and genotyping of PTPN22 R620W polymorphism were done for 60 SLE patients and 60 age- and sex-matched healthy subjects.