ESPE Abstracts

Hutchison-Gilford progeria syndrome (HGPS) is a rare genetic disorder which is characterized by aging fast in affected individuals. The prevalence of HGPS is around of 1 in 20 million approximately. The exact etiology is not very well known, However it is believed to be an autosomal dominant disorder that occurs due to point mutations in lamin A (LMNA) gene. In this case report we share the challenges of being the first presented case in Oman. A 6 years old Omani boy diagnosed...

Background: The growth and development of human tissues are critically regulated by the Insulin-like Growth Factor 1 Receptor (IGF1R) and its ligand IGF-1. Mutations in the IGF1R gene and less frequently in the IGF1 gene are associated with a heterogeneous group of growth disorders, manifesting as intrauterine and postnatal growth retardation.Literature Review: In this review, 30 published papers were analyzed, giving a ...

Background: GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein–coupled receptor (GPCR) signaling. Mutations in GNAS are known to cause pseudohypoparathyroidism (PHP). Children with this condition are overweight, have learning difficulties, are often short and have skeletal changes and hormone resistance.Case report: We-herein-report a 6-month-old mal...

Introduction: The EQ5D questionnaire is an openly available, validated, age-specific and generic measure of quality of life (QoL) which takes less than 5 minutes to complete. A higher dimension score and a lower visual analogue scale (VAS) is associated with worse QoL. Our aim was to use this tool to assess the QoL of patients with a wide range of paediatric endocrine conditions in the routine clinical setting.Methods: B...

Introduction: Growth Hormone Deficiency (GHD) with concomitant IGF1 resistance presents a complex diagnostic challenge, often featuring a constellation of growth, developmental, and neurologic findings. This case report presents a 6-year-old female with short stature, speech delay, and an abnormal genetic microarray indicative of IGF1 resistance, contributing to a unique clinical presentation.Case Presentation: I.N., a 6...

Background and aims: Early puberty (EP) in girls, characterized by the onset of thelarche between 6 and 8 years of age and/or rapid pubertal progression, remains a topic of debate. This study aims to assess the clinical and hormonal characteristics of girls with early and fast puberty (FEP) and their response to treatment with GnRH analogs (GnRHa) on growth, pubertal progression, and bone maturation.Methods: Data from 22...

Introduction: Understanding the growth outcomes and management strategies in Salt-Wasting Congenital Adrenal Hyperplasia (SW-CAH) is crucial for optimizing patient care.Objective: We review and synthesize the evidence on growth patterns and final adult height outcomes in pediatric patients with SW-CAH, focusing on the effects of different management strategies including glucocorticoid treatment, growth hormone (GH) thera...

Background: Vitamin D deficiency in adolescents can lead to rickets, osteomalacia, and skeletal deformities such as genu valgus. Chronic deficiency may also have implications for growth and endocrine function. This case report describes the clinical presentation, management, and outcome of severe Vitamin D deficiency in a 15-year-old black girl with genu valgus and abnormal gait.Case Presentation: The patient presented w...

Introduction: Monogenic obesity is a rare form of obesity. It should be suspected if patients have severe early-onset obesity, rapid weight gain in the first 2 years of life, hyperphagia, positive family history, and additional clinical manifestations. Genetic testing is highly recommended in such cases, as new pharmacological therapies for several types of genetic obesity exist. Hence, we sought to evaluate the clinical, laboratory and molecular characteristi...

Background: Leptin, a hormone released from adipose tissue, exerts its influence through the leptin receptor located in the arcuate nucleus of the hypothalamus. Leptin receptor mutation is an extremely rare autosomal recessive monogenic disorder, caused by biallelic pathogenic variants in the LEPR gene. Individuals with leptin receptor deficiency exhibit rapid weight gain, severe early-onset obesity, hyperphagia, hypogonadotrophic hypogonadism, and T-...