ESPE Abstracts

Background: Small for gestational age (SGA) children are defined by birth weight and/or length at least 2 standard deviations (S.D) below the population mean for gestational age. Up to 90% of these infants experience catch-up growth within the first two years of life; however, 10-15% fail to do so, remaining short at age 2 (SGA-SS). The etiology of failure to achieve catch-up growth remains largely unknown.Methods: This ...

Objective: To evaluate the severity and the correlates of depressive symptoms in adolescents with obesity comparing to normal adolescents in Hong Kong using a validated screening tools: Patient Health Questionnaire-9 (PHQ-9) for age 11-17 in Hong Kong.Methods: In this prospective and retrospective cross-sectional study. We recruited 840 adolescents, including 306 adolescents with obesity from clinic and local schools. We...

Background: Advancements in healthcare digitalisation are facilitating the management of long-term recombinant human growth hormone (r-hGH) therapies. Understanding the benefits and risks associated with digital healthcare solutions is crucial to assess their effectiveness in improving treatment adherence and ultimately achieving optimal growth outcomes.Aim: To explore healthcare professionals’ (HCPs) perspective o...

Introduction: The intellectual outcome in children with congenital hypothyroidism detected by neonatal screening is generally good. The aim of this study was to evaluate the intellectual outcome in patients with congenital hypothyroidism at childhood and to identify factors that may affect intellectual development.Methods: The intelligence quotient (IQ) of 126 patients with congenital hypothyroidism was evaluated at childhood using the Korean Wechsler In...

Introduction: Hypophosphatasia (HPP) is a rare autosomal recessive or dominant genetic disorder characterized by the abnormal development of bones and teeth and deficiency of tissue non-specific alkaline phosphatase activity. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. The specific symptoms can vary greatly from one person to another, sometimes even among membe...

Purpose: Childhood obesity epidemic leads an interest of pre-stage of hypertension; higher/elevated blood pressure (BP) status which BP numbers are lower than the criteria for diagnosing hypertension. In 2017, the clinical practice guidelines for pediatric BP management were published separately by Endocrine Society (ES) and American Academy of Pediatrics (AAP). The aims of this study are to evaluate the prevalence of elevated blood pressure (EBP) including hy...

Background: Permanent neonatal diabetes mellitus (PNDM) is a rare form of monogenic diabetes with onset less than 6 months of age. Together, activating mutations in KCNJ11 and ABCC8 genes, that encode the Kir6.2 andsulfonylurea receptor 1 (SUR1) subunits, respectively, account for nearly 50% of PNDM cases.Case report: We present a case reported a child diagnosed with PNDM resulting from a new mutation in the insulin (INS) gene, leading to severe hypergly...

Objective: To explore the clinical manifestations and genetic characteristics of 10 patients with ACAN variants presented as short stature, and analyze the efficacy of recombinant human growth hormone (rhGH) and/or combined with gonadotropin-releasing hormone agonist (GnRHa) in some patients with premature thelarche.Methods: We reviewed clinical data of 10 patients with ACAN variants. Genetic testing was performed on pro...

Objective: To explore the genotypes and phenotypes of 19 patients with ACAN variants presented as short stature with or without premature thelarche and abnormal intellectual development. Then the therapeutic response to recombinant human growth hormone (rhGH) and/or gonadotropin-releasing hormone agonist (GnRHa) were analysed.Methods: We reviewed clinical data of 19 patients with ACAN variants. Genetic ...

Background: Patients with 46,XY, DSD are characterized by ambiguous or female external genitalia, caused by incomplete intrauterine masculinization. 5α-reductase type 2 deficiency due to SRD5A2 gene mutations result in inadequate conversion from testosterone to dihydrotestosterone (DHT), and is responsible for incomplete virilization in male patients. Up to date, more than 50 mutations have been reported, however, clinical features are variable and heterogeneous.<p cl...