Tackling access and payer barriers for growth hormone therapy in Saudi Arabia: a consensus statement for the Saudi Working Group for Pediatric Endocrinology.

Prompt diagnosis and early treatment are key goals to optimize the outcomes of children with growth hormone deficiency (GHD) and attain the genetically expected adult height. Nonetheless, several barriers can hinder prompt diagnosis and treatment of GHD, including payer-related issues. In Saudi Arabia, moderate-to-severe short stature was reported in 13.1 and 11.7 % of healthy boys and girls, respectively. Several access and payer barriers can face pediatric endocrinologists during the diagnosis and treatment of GHD in Saudi Arabia. Insurance coverage policies can restrict access to diagnostic tests for GHD and recombinant human growth hormone (rhGH) due to their high costs and lack of gold-standard criteria. Some insurance policies may limit the duration of treatment with rhGH or the amount of medication covered per month. This consensus article gathered the insights of pediatric endocrinologists from Saudi Arabia to reflect the access and payer barriers to the diagnostic tests and treatment options of children with short stature. We also discussed the current payer-related challenges endocrinologists face during the investigations of children with short stature. The consensus identified potential strategies to overcome these challenges and optimize patient management.

Risk factors and predictors of uncontrolled hyperglycemia and diabetic ketoacidosis in children and adolescents with type 1 diabetes mellitus in Jeddah, western Saudi Arabia.

BACKGROUND: Little is known about levels of glycemic control and risk factors for uncontrolled hyperglycemia in Saudi children with type 1 diabetes mellitus (T1DM). The aim of the present study was to identify levels of glycemic control, risk factors and predictors of uncontrolled hyperglycemia (HG) and diabetic ketoacidosis (DKA) in children with T1DM. METHODS: A retrospective study was performed on Saudi children and adolescents with confirmed T1DM who were followed at the Pediatric Endocrinology Clinic of the Maternity and Children Hospital, Jeddah, from 2000 to 2014. Data collection included all possible factors that may be associated with uncontrolled T1DM. Patients were classified according to American Diabetes Association guidelines for target HbA1c levels per age group. Comparisons were made between well-controlled (WC) patients, HG patients, and DKA patients. Calculation of odds ratios and logistic regression allowed for estimation of the role of each risk factor in uncontrolled T1DM. RESULTS: Only 31.2 % of children and adolescents with T1DM were well controlled. Better glycemic control was associated with age < 6 years, urban residence, and T1DM duration <5 years. Glycemic control was not affected by gender, insulin therapy, or comorbidities. The most significant independent predictors of hyperglycemia and DKA were poor compliance with a healthy lifestyle (adjusted hazards ratio [AHR] 28.94; 95 % confidence interval [CI] 8.37-100.04) and an excess intake of sweets (AHR 3.31; 95 % CI 1.54-7.11). CONCLUSION: The most significant independent predictor for poor glycemic control (particularly DKA rather than hyperglycemia) in Saudi children and adolescents was poor compliance with a healthy lifestyle with an excessive intake of sweets.

An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by enlarged kidneys and multiple small cysts with deficient cortico-medullary junction differentiation and normal kidney function. There was minor facial dysmorphism (depressed nasal bridge, large anterior fontanelle, long philtrum) reported but no facial photographs were published. Mutations in the transcription factor GLI-similar 3 (GLIS3) gene in the original family and two other families were subsequently reported in 2006. All affected individuals had neonatal diabetes, congenital hypothyroidism but glaucoma and liver and kidney involvement were less consistent features. Detailed descriptions of the facial dysmorphism have not been reported previously. In this report, we describe the common facial dysmorphism consisting of bilateral low-set ears, depressed nasal bridge with overhanging columella, elongated, upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with GLIS3 mutations and report the emergence of a distinct, probably recognizable facial gestalt in this group which evolves with age. © 2016 Wiley Periodicals, Inc.