The Clinical and Genetic Diversity of Thyroid Hormone Resistance: Four Clinical Vignettes.

Introduction: Resistance to thyroid hormones (RTH) is a rare but important genetic cause of decreased peripheral tissue responses to the actions of thyroxine. Most RTH cases are caused by mutations in thyroid hormone receptor β (TRβ, THRB), while a few are caused by mutations in thyroid hormone receptor α (TRα, THRA). RTH is clinically heterogeneous, and the biochemical features are often confusing, resulting in misdiagnoses, mismanagement, and life-long consequences for affected individuals.

Neonatal diabetes mellitus around the world: Update 2024.

Neonatal diabetes mellitus (NDM), defined as diabetes with an onset during the first 6 months of life, is a rare form of monogenic diabetes. The initial publications on this condition began appearing in the second half of the 1990s and quite surprisingly, the search for new NDM genes is still ongoing with great vigor. Between 2018 and early 2024, six brand new NDM-genes have been discovered (CNOT1, FICD, ONECUT1, PDIA6, YIPF5, ZNF808) and three genes known to cause different diseases were identified as NDM-genes (EIF2B1, NARS2, KCNMA1).

Vitamin D deficiency and associated demographic risk factors in children at a tertiary hospital in Abu Dhabi.

Background: Despite ample sunshine, vitamin D deficiency continues to be prevalent in the Middle East. This pilot study aimed to identify the rate of vitamin D deficiency at a tertiary hospital in Abu Dhabi and to identify the associated risk factors in children and adolescents.

Methodology: A retrospective observational study was conducted using electronic medical records of paediatric patients who underwent 25-hydroxyvitamin D testing at Sheikh Shakhbout Medical City, Abu Dhabi between 1 January 2020 and 31 December 2021.

MiniMed 780G System Use in Type 1 Diabetes During Ramadan Intermittent Fasting: A Systematic Literature Review and Expert Recommendations.

This article offers a systematic literature review (SLR) on the use of the MiniMed 780G automated insulin delivery system (MM780G) in people with type 1 diabetes (PwT1D) during Ramadan intermittent fasting. It also presents consensus recommendations on the use of MM780G during the Ramadan period. The SLR was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses methodology.

Dental caries in children and adolescents with poorly-controlled diabetes: a case-control study.

The relationship between diabetes and dental caries remains uncertain. The main objective of this study was to quantify dental caries in children and adolescents with and without poorly-controlled diabetes to examine whether poorly-controlled diabetes influences caries prevalence and severity. This was a case-control study of children and adolescents with poorly-controlled diabetes and age-matched controls attending paediatric clinics at Sheikh Shakhbout Medical City, Abu Dhabi, UAE in August 2022.

Characteristics of adolescents referred for bariatric surgery in Abu Dhabi, United Arab Emirates.

About a third of children and adolescents are overweight or obese in the United Arab Emirates, and referrals for metabolic and bariatric surgery (MBS) are now common. Despite excellent evidence that MBS should be considered in adolescents with severe obesity, it remains a management approach of last resort in many cases. Baseline, real-world data on adolescent patients living with obesity referred for surgery, their characteristics, and how these relate to current and future referral policy are important to ensure best practice.

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.

Background: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment.

Methods: CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity.

Lessons Learned From COVID-19 Lockdown: An ASPED/MENA Study on Lifestyle Changes and Quality of Life During Ramadan Fasting in Children and Adolescents Living With Type 1 Diabetes.

Background: Lockdown was a unique experience that affected many aspects of life, particularly during the challenge of Ramadan fasting (RF). Studying this can increase understanding of the effects of lifestyle changes on quality of life (QoL) for children with type 1 diabetes (T1D) during RF.

Methods: A cross-sectional study that assessed the effect of lockdown on lifestyle and QoL on fasting children living with T1D during Ramadan in the Middle East and North Africa region (2020-2021).

Whole-Exome Sequencing in Family Trios Reveals De Novo Mutations Associated with Type 1 Diabetes Mellitus.

Type 1 diabetes mellitus (T1DM) is a chronic autoimmune disease characterized by insulin deficiency and loss of pancreatic islet β-cells. The objective of this study is to identify de novo mutations in 13 trios from singleton families that contribute to the genetic basis of T1DM through the application of whole-exome sequencing (WES). Of the 13 families sampled for this project, 12 had de novo variants, with Family 7 having the highest number (nine) of variants linked to T1DM/autoimmune pathways, whilst Family 4 did not have any variants past the filtering steps.

Combined SPINK1 mutations induce early-onset severe chronic pancreatitis in a child with severe obesity.

Summary: The most frequent causes of pancreatitis classically have been known to be gallstones or alcohol. However, genetics can also play a key role in predisposing patients to both chronic and acute pancreatitis. The serine protease inhibitor Kazal type 1 (SPINK 1) gene is known to be strongly associated with pancreatitis.

Patients' Perception of the Use of the EasyPod™ Growth Hormone Injector Device and Impact on Injection Adherence: A Multi-Center Regional Study.

Objective: This study aimed to assess patient perceptions of the use of the EasyPod™ growth hormone delivery device and its association with compliance.

Methods: This cross-sectional, multicenter study was conducted in six centers from three countries (United Arab Emirates, Oman, and Saudi Arabia,) between March 2020 and June 2020. Children and adolescents aged 3-18 years, diagnosed with growth disorders and receiving rhGH through the EasyPod™ device were enrolled.

Use of continuous glucose monitoring trend arrows in the younger population with type 1 diabetes.

Early control of glycaemia is key to reduce vascular complications in individuals with Type 1 diabetes. Therefore, encouraging children and adolescents with T1DM to take responsibility for controlling glucose levels is an important yet a challenging task. The rapid expansion of continuous glucose monitoring (CGM) systems has allowed for more comprehensive analysis of glycaemia in T1D.

Efficacy and safety of the addition of sitagliptin to treatment of youth with type 2 diabetes and inadequate glycemic control on metformin without or with insulin.

Objective: To assess the efficacy and safety of sitagliptin in youth with type 2 diabetes (T2D) inadequately controlled with metformin ± insulin.

Study Design: Data were pooled from two 54-week, double-blind, randomized, placebo-controlled studies of sitagliptin 100 mg daily or placebo added onto treatment of 10- to 17-year-old youth with T2D and inadequate glycemic control on metformin ± insulin. Participants (N = 220 randomized and treated) had HbA1c 6.

A randomized clinical trial of the efficacy and safety of sitagliptin as initial oral therapy in youth with type 2 diabetes.

Objective: To assess the efficacy and safety of DPP-4 inhibition with sitagliptin in youth with type 2 diabetes (T2D).

Study Design: This was a 54-week, double-blind, randomized, controlled clinical trial evaluating the safety and efficacy of DPP-4 inhibition with sitagliptin 100 mg once daily as initial oral therapy in youth with T2D. The 190 participants, aged 10-17 years, had HbA1c 6.

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.

Neurological Presentations of COVID-19: Characteristic Features in a Case Series of Hospitalized Patients from Abu Dhabi, UAE.

Background: COVID-19 patients can present with neurological manifestations in the form of headache, dizziness, hyposmia, myalgia, peripheral neuropathy, acute cerebrovascular disease, and encephalopathy. Neurological involvement could be due to virus-induced brain hypoxia, brain infection, or immune reaction. We aim to describe the neurological presentation of COVID-19 patients and study their neuroimaging findings and disease outcome.

Digital Health for Supporting Precision Medicine in Pediatric Endocrine Disorders: Opportunities for Improved Patient Care.

Digitalization of healthcare delivery is rapidly fostering development of precision medicine. Multiple digital technologies, known as telehealth or eHealth tools, are guiding individualized diagnosis and treatment for patients, and can contribute significantly to the objectives of precision medicine. From a basis of "one-size-fits-all" healthcare, precision medicine provides a paradigm shift to deliver a more nuanced and personalized approach.