Maternal attitude towards delaying puberty in girls with and without a disability: a questionnaire-based study from the United Arab Emirates.

Background: Parental anxiety about the impact of puberty/menses, particularly in girls with severe disability leads to seeking therapeutic pubertal suppression. We aim to explore maternal attitudes and reasons for seeking pubertal suppression.

Methods: Mothers of girls receiving gonadotropin -releasing hormone analogue therapy in Mafraq hospital, Abu Dhabi were enrolled in the study.

Occurrence of Hypothyroidism, Diabetes Mellitus, and Celiac Disease in Emirati Children with Down's Syndrome.

Objectives: Autoimmune diseases are known to occur in people with Down's syndrome (DS), especially celiac disease, type 1 diabetes mellitus (DM), and hypothyroidism. Since there are common genetic risk factors involved in the occurrence of these autoimmune disorders, the risks would differ in different populations. We sought to determine the prevalence of type 1 DM, celiac disease, and hypothyroidism in Emirati patients with DS in Abu Dhabi, UAE.

Dyslipidemia and Fatty Liver Disease in Overweight and Obese Children.

Introduction: Obesity is a worldwide concern. It is associated with morbidity such as dyslipidemia and liver disease. Childhood obesity has dramatically increased, particularly in the Gulf region.

Attitude, complications, ability of fasting and glycemic control in fasting Ramadan by children and adolescents with type 1 diabetes mellitus.

Objectives: Sick individuals and children are exempted from fasting Ramadan. Fasting by type 1 diabetes patients might predispose to acute complications. There are no guidelines on fasting safety or its impact on diabetes control in children and adolescents.

Does Reducing Basal Insulin During Ramadan Fasting by Children and Adolescents with Type 1 Diabetes Decrease the Risk of Symptomatic Hypoglycemia?

Background: Ramadan fasting by patients with type 1 diabetes might predispose them to hypoglycemia. There are no data on the optimal way of adjusting basal insulin during fasting. We aim at studying whether reducing basal insulin during Ramadan reduces the frequency of symptomatic hypoglycemia.

Implementation of a Diabetes Educator Care Model to Reduce Paediatric Admission for Diabetic Ketoacidosis.

Introduction. Diabetic Ketoacidosis (DKA) is a serious complication that can be life-threatening. Management of DKA needs admission in a specialized center and imposes major constraints on hospital resources.

Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene.

Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error of metabolism causing a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which various mutation types have been reported. Affected individuals have a broad spectrum of presentation ranging from normal female-appearing genitalia, cliteromegaly, microphallus, hypospadias, to completely male-appearing genitalia.

Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates.

Background: Congenital hypothyroidism (CH) is caused by thyroid gland (TG) dysgenesis or inadequate thyroid hormone biosynthesis in a structurally normal gland. Different etiologies are known to be associated with various clinical, biochemical and imaging markers and a subset of cases have an underlying genetic basis. Despite the presence of neonatal screening programs in the UAE, there is a lack of data on the disease etiology in the area.

17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development.

Unlabelled: Combined17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings.

Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.

Neonatal diabetes mellitus (NDM) can be transient (TNDM) or permanent (PNDM). Data on NDM from the Gulf region are limited to few studies on PNDM.The objective of this study was to describe the genetic and clinical spectrum of NDM and estimate its incidence in AbuDhabi, capital of the United Arab Emirate (UAE).

Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children.

Introduction: Diagnosis of isolated growth hormone deficiency (IGHD) can be challenging. As short stature is common in children, confirmed diagnosis is necessary prior to commencing treatment. Pituitary hypoplasia can be seen in children with IGHD.