Galactose is a hexose essential for production of energy, which has a prebiotic role and is essential for galactosylation of endogenous and exogenous proteins, ceramides, myelin sheath metabolism and others. The inability to metabolize galactose results in galactosemia. Galactosemia is an autosomal recessive disorder that affects newborns who are born asymptomatic, apparently well and healthy, then develop serious morbidity and mortality upon consuming milk that contains galactose. Those with galactosemia have a deficiency of an enzyme: classic galactosemia (type 1) results from severe deficiency of galactose-1-uridylyltransferase, while galactosemia type II results from galactokinase deficiency and type III results from galactose epimerase deficiency. Many countries include neonatal screening for galactosemia in their national newborn screening program; however, others do not, as the condition is rather rare, with an incidence of 1:30,000–1:100,000, and screening may be seen as not cost-effective and logistically demanding. Early detection and intervention by restricting galactose is not curative but is very rewarding, as it prevents deaths, mental retardation, liver cell failure, renal tubular acidosis and neurological sequelae, and may lead to resolution of cataract formation. Hence, national newborn screening for galactosemia prevents serious potential life-long suffering, morbidity and mortality. Recent advances in communication and biotechnology promise facilitation of logistics of neonatal screening, including improved cost-effectiveness.

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BackgroundThe coronavirus disease 2019 (COVID-19) pandemic has been associated with significant challenges pertaining to the management of children and adolescents with type 1 diabetes (T1D). Issues such as fear of infection and lockdown measures have resulted in delayed and more severe clinical presentations of this disease.ObjectivesThis study aimed at reporting the frequency and severity of diabetic ketoacidosis (DKA) and the rate of DKA complications in children with diabetes who presented to the emergency unit during COVID-19 pandemic. Furthermore, the purpose of this study was to compare the data collected from the first and second COVID-19 waves with that of the pre-COVID-19 period and describe the challenges encountered during disease management.MethodsThis cross-sectional study included all children and adolescents with T1D who presented to the emergency department at Abo El Rish Children’s Hospital, Cairo University, during the first and second COVID-19 waves. It also included data collected from the pre-COVID-19 period. Demographic and clinical data, investigations, and management details were collected from the patients’ medical records.ResultsThree hundred twenty-four Egyptian children and adolescents diagnosed with T1D were recruited. One hundred forty patients (43.2%) presented with severe DKA, and approximately 66% were newly diagnosed with T1D. The participants presented with manifestations suggestive of COVID-19, such as fever (29.5%), respiratory manifestations (7.2%), and gastrointestinal symptoms (14.7%). Thirty-seven patients were tested for severe acute respiratory syndrome coronavirus 2 infection using nasopharyngeal swabs, and four patients tested positive. Around 18% of patients developed hypokalemia during disease management. A comparison between these data and the data from previous years revealed that there was a significant increase in the number of newly diagnosed cases with more severe DKA at presentation and a higher frequency of development of hypokalemia during both COVID-19 waves.ConclusionAn increase in the frequency of newly diagnosed cases was identified during the first and the second COVID-19 waves compared with the pre-COVID-19 period. The patients presented with more severe DKA, probably due to a more delayed presentation. The frequency of hypokalemia development was also significantly higher, and the severity of DKA was associated with a longer ICU admission. Further studies are required to establish a definitive link between the COVID-19 pandemic and the severity of presentation.

Introduction:The aim of the current work was to review the clinical profile, aetiological classification, as well as the management of Egyptian paediatric patients with disorders of sex development (DSD) presenting at a tertiary centre in Cairo. Material and methods:The study was a cross-sectional observational study that included Egyptian patients who attended the Endocrinology clinic during a period of one year from January to December 2019. All patients with overt genital ambiguity aged from 0 to 18 years were recruited in the study. Diagnosis of DSD was based on clinical features and hormonal profile.Results: Out of 100 patients, 71% had 46XY DSD, 24% had 46XX DSD, while sex chromosome DSD was identified in 5%. The median age of presentation was 12 months with 19% presented during infancy. The most common cause of 46XY DSD was due to either defect in androgen synthesis or action (40%) with the majority due to androgen insensitivity syndrome (28%). Most of the 46XX DSD (21/24) patients were diagnosed as classic congenital adrenal hyperplasia secondary to deficiency of 21 hydroxylase enzyme, with 90% being salt wasters. Conclusion:Our series revealed that 46XY DSD was the most frequent DSD aetiological diagnosis, with androgen insensitivity syndrome representing the commonest cause. CAH with classic salt wasting type was the second most common disorder. Management of children with DSD is challenging especially with lack of adequate resources. The crucial issues that stand against proper diagnosis and management are late presentation combined with economic constrains, and social and cultural issues.

Background Short stature is one of the main causes of children referral to pediatric endocrinologists. Common etiologies include idiopathic growth hormone deficiency (IGHD), small for gestational age (SGA), and idiopathic short stature (ISS). Objectives The aim of this study was to assess and compare the response of children with IGHD, ISS, and SGA to growth hormone (GH) therapy. Methods This was a mixed cohort study that included 40 children with short stature (classified into IGHD, ISS, and SGA) following up at Diabetes, Endocrine, and Metabolism Pediatric Unit (DEMPU), Cairo University Children’s Hospital. Ages ranged between 3 and 18 years. Recruited cases were evaluated for their 1-year response to GH therapy. In addition to history taking, physical examination, and anthropometric measurements, serum levels of IGF-1 were assayed at recruitment. Results Among the 3 groups, height gain (cm/year) was significantly higher in the IGHD group (6.59 cm/year), followed by the ISS (4.63 cm/year) and SGA groups (4.46 cm/year) (p = 0.039). Using the Bang criterion for first-year responsiveness to GH therapy, most cases (30/40, 75%) were considered poor responders. Conclusion There is a male predominance in children seeking medical advice for short stature. Starting GH therapy at an older age was associated with poor response. Children with IGHD respond better to GH therapy than those with ISS and SGA.