ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis. The most common form of CAH is the 21-hydroxylase deficiency (21-OHD), however, the incidence and the etiologic spectrum of other forms of CAH were not reported.Objective and hypotheses: This study describes the etiological distribution and clinical characteristics of CAH in a single academic centre.<p class...

Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphataemia and Albright hereditary osteodystrophy (AHO), resulting from abnormalities of GNAS.Objective and hypotheses: This study investigated clinical features, outcomes, molecular characteristics of patients with PHP and pseudopseudohypoparathyroidism (PPHP).Method: Thirty one patients (15 males and 16...

Background: Permanent neonatal diabetes mellitus is caused by mutations in the KATP channel subunits. DEND (Developmental delay, Epilepsy, and Neonatal Diabetes) syndrome is the most severe form of permanent neonatal diabetes. We experienced a patient with DEND syndrome, who was initially misdiagnosed as type 1 diabetes, who has been successfully switched from insulin injection to oral sulfonylurea therapy.Case presentation: A 50-day-old male ...

Background: Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. And these primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS.Objective and hypotheses: We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth char...

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endoc...

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

Introduction: The goal of treating short children with growth hormone (GH) is to normalize adult height adjusted for mid parental height (MPH). We obtained adult height data on 87 patients (23 girls, 64 boys) treated with GH who originally participated in a randomized, prospective, open-label clinical trial with either personalized dose based on a prediction model (n=58), or standard dose (n=29). The children were either growth hormone defici...

Objective: Metabolic programming occurs during early life and nutritional factors are known to have long-lasting influences on metabolic health. We investigate associations between insulin-like growth factor I (IGF-I), leptin and adiponectin during infancy and metabolic markers in the same children at six years of age.Method: The Swedish longitudinal Halland Health and Growth birth cohort study is population-based, origi...

Background: It is debated whether oral glucose tolerance test (OGTT) should be routine in child obesity units to identify high risk individuals for impaired fasting glucose (IFG) or impaired glucose tolerance (IGT).Aims: To investigate the prevalence of some signs of metabolic syndrome in child obesity.Methods: All consecutive newly referred obese children (BMI>30) at a Swedish university unit were evaluated with fasting glucos...

Neonatal diabetes mellitus (NDM) is a hyperglycemic status usually diagnosed before first 6 months of life, which is caused by monogenic mutations. INS gene mutation is the second most common cause of permanent NDM, causing misfolding of proinsulin and accumulation in the endoplasmic reticulum, leading to apoptosis of the pancreatic beta cells. We report a case of NDM in a 2-month-old girl with a novel heterozygous mutation of the INS gene, and functional studies to confirm th...