ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) represent a group of clinically and genetically heterogonous disorder that characterized by unregulated insulin secretion by B-cells. It is the most common cause of hypoglycaemia in the neonatal period. Infants with diffuse CHI have homozygous or compound heterozygous mutation in the KATP channel and the majority are unresponsive to standard medical therapy and eventually they need near total pancreatectomy. Recent data showed the e...

Background: Partial gonadal dysgenesis is a rare 46, XY Disorder of sex development (DSD) characterized by a varying degree of testicular dysgenesis, ambiguous genitalia, and persistence or absence of regression of Müllerian structures. Many studies examined the challenges in presentation and gender assignment regarding the genital features, genetic mutations and histopathological risks of dysgenetic gonads. More recently some studies described the long-term outcome of pa...

Introduction: NDM is a rare disease diagnosed in the first 12 months of life. It is either transient or permanent. Early recognition of mutation in KCNJ11 and ABCC8, which account for approximately 40% of NDM, is essential to consider oral sulfonylurea for responsiveness mutations.Aim: To study the efficacy and safety of oral sulfonylurea in a long-term follow-up (15 years) for the first successful switch from insulin to...

Background: PHA is a rare, but life threatening condition, that usually presents with impressive hyperkalemia. It can be initially missed as congenital adrenal hyperplasia (CAH). We present a series of these patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management.Case Report: We admitted 4 cases in our institution between 2017-2021. Case one, three and four were all 7 days ...

Background: Recombinant GH (rGH) treatment is approved in many countries for treatment of short stature in a number of childhood diagnoses. rGH was first introduced in Kuwait in the 1990s. Since its introduction, there has been no reported data on the clinical profile of treated children. There is a huge gap in knowledge of use and response to Paediatric rGH therapy in Kuwait and the region.Objective and hypotheses: The objective of this study is to repo...

Background: X-linked hypophosphataemic rickets (XLH) is a genetic disorder, characterized by hypophosphatemia and caused by a mutation in the phosphate regulating endopeptidase homolog, X-linked (PHEX) gene which leads to overexpression of fibroblast growth factor 23 (FGF23).1,2 Conventional therapy, supplementation with oral phosphate and vitamin D analogs, does not treat the underlying cause of the disorder and is associated with poor treatment ad...

Background: McCune-albright syndrome is clasiically defined by the clinical triad of fibroud dysplasia of bone (FD), café-au-lait spots and precocious puberty. It is a rare disease with variable presentation caused by somatic (non-germline) gain of function mutation in GNAS gene. It can affects both endocrine and non-endocrine tissue. In addition to precocious puberty, other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth excess, cushin...

Background: Neonatal thyroid screening is considered one of the best cost-effective tool to prevent mental retardation in population. Different strategies are suggested for thyroid hormone estimation in the sample obtained at birth using cord blood or later in neonatal period. In King Abdulaziz Medical City, cord TSH is the screening tool to detect congenital hypothyroidism cases with a cut off value of 30 MIU/l considered positive result. In 2011, newborn screening programme ...

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...

Introduction: Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in the accumulation of chylomicrons in plasma and therefore hypertriglyceridemia. Elevated triglycerides (TG) cause several complications, the most serious one is recurrent pancreatitis. The mainstream of management is a fat-restricted diet, followed by supplementing with Omega-3 fatty acids. Fenofibrate, and statin...