ESPE Abstracts

Background: Pancreatic agenesis has been reported as a cause of neonatal diabetes. Most commonly it was associated with severe neurodevelopmental problems caused by homozygous mutations in the transcription factor PTF1A. Isolated pancreatic agenesis was related to biallelic mutations in an enhancer located near PTF1A gene, which suggests that the enhancer is tissue specific to the pancreas. PDX1 is another transcription factor gene in which biallelic mutation ...

Introduction:• Adrenal insufficiency is a rare, but potentially fatal medical condition 1.• In children, the cause is most commonly congenital adrenal hyperplasia (CAH) but in recent years a growing number of causative gene mutations have been identified resulting in syndromes that share primary adrenal insufficiency (PAI) characteristics.<p cl...

Background: Congenital hypothyroidism (CH) characterized by a deficient secretion of thyroid hormone in newborn. It is the most common endocrine disease in the children with an incidence rate about 1: 3000 live births in Saudi Arabia. Thyroid dysgenesis and dyshormonogenesis are the most common causes. Thyroid dyshormonogensis commonly inherited as autosomal recessive disorders. Although Thyroglobulin followed by TSHR mutations are the most common genetic defe...

Background: Hereditary Vitamin D-Resistant Rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) resulting in end organ resistant to 1a,25-dihydroxyvitamin D, [1,25(OH)2D]. Majority of HVDRR has Elevated 1, 25(OH)2D which is a hallmark for diagnosis of this disease. High doses of vitamin D, oral calcium and most importantly IV calcium infusion are the mode of therapy in HVDRR.A...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

Background: X-linked hypophosphatemia (XLH) is a rare, often debilitating genetic disorder caused by mutations in the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) that is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal deformities, and growth impairment.1,2 Conventional therapy with the combination of phosphate and active vitamin D is associated with poor treatment adh...

Background: Congenital adrenal hyperplasia (CAH) refers to a group of inherited genetic disorders involving deficiencies in enzymes that convert cholesterol to cortisol within the adrenal cortex. Deficiency of 21-hydroxylase is the most commonly defective enzyme. Affecting 1 of 8000 live births in KSA. It requires life-long steroid replacement therapy in form of glucocorticoid and mineralocorticoid replacement. Without appropriate monitoring, 21-OH deficiency ...

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, therapy includes daily oral phosphate and active vitamin D analogue (alfacalcidol or calcitriol) supplementation, but is associated with gastrointestinal side...

Background: As a global pandemic and a public health concern, obesity impacts physical health adversely. Obesity is defined as abnormal excessive fat accumulation in adipose tissue. Where a portion of which have polygenic and monogenic etiology. Individuals carrying a rare gene variant that has a striking impact on adiposity are considered to be part of Monogenic obesity. In this study, we aimed to identify the presence of monogenic mutations contributing to e...

Background: Vitamin-D deficiency becomes a worldwide issue, and major cause of rickets in younger age groups. Multiple causes lead to vitamin-D deficiency in which nutritional causes contribute the major factor. The synthesis of bioactive vitamin-D requires hydroxylation at 1α and 25 positions by cytochrome-P450 in the kidney and liver, respectively. Recently, human CYP2R1 has been reported as a major factor for 25-hydroxylation, in which it contributes for the inherited ...