ESPE Abstracts

Introduction: Growth hormone (GH) deficiency in children with short stature poses significant diagnostic and therapeutic challenges. Sex steroid priming before GH stimulation tests (GHST) is a strategy employed to enhance the diagnostic accuracy for GH deficiency. However, the efficacy and impact of this approach remain subjects of debate.Aim: This study aim ed to evaluate the effects of sex steroid priming on various gr...

Introduction: Growth Hormone Deficiency (GHD) can manifest at birth with hypoglycemia, prolonged conjugated hyperbilirubinemia, and midline defects. Despite typically normal length at birth, early post-natal growth failure can be significant.Case Report: A 4-month-old girl presented to the Failure to Thrive (FTT) clinic with poor weight gain. Born full-term with a birth weight of 3 kg and length of 48 cm, she was initial...

Introduction: Growth Hormone Deficiency (GHD) can manifest at birth with hypoglycemia, micropenis, or prolonged conjugated hyperbilirubinemia. While neonatal length is often normal, early post-natal growth failure can be significant.Case Report: A 2-week-old girl born to a Type 2 diabetic mother (HbA1c 7% at end of pregnancy) via elective LSCS presented with normal birth metrics but was admitted to NICU due to hypoglycem...

Introduction: This study presents a comparative analysis of the efficacy of sex steroid priming in enhancing growth hormone (GH) responses in short stature children undergoing GH stimulation tests.Methods: A randomized study encompassed a cohort of 40 children, divided into two groups: "With Priming" and "Without Priming". The primed group exhibited a higher peak GH response (6.53) compared to the non...

Introduction: Children with growth hormone (GHD) often exhibit unique patterns in glucose and insulin metabolism, which could potentially deteriorate upon receiving GH therapy. This therapeutic intervention, while crucial for promoting normal growth, may inadvertently influence the intricate balance of glucose homeostasis and insulin sensitivity,Methods: We reviewed and analyzed 12 studies based on their relevance, in ch...

Introduction: Isolated growth hormone deficiency (GHD), which is idiopathic in most cases, is a rare disease. If left untreated, cases occurring in the prepubertal period will lead to permanent short stature. GHD was approved for recombinant human growth hormone (rhGH) replacement in 1985. In Vietnam, the diagnosis and treatment of growth disorders have been performed for 20 years, but only at a few hospitals in Ha Noi and Ho Chi Minh city. Furthermore, studie...

Introduction: Growth hormone (GH) stimulation tests are essential tools for diagnosing growth hormone deficiency (GHD) as a serum peak GH level less than 10 µg/L on two separate tests. We aim ed to compare L-dopa, insulin, and arginine-induced stimulation tests based on the response to GH replacement.Methods: We retrospectively collected data from a review of patients who underwent the GH stimulation test. A total ...

Background: Recombinant human growth hormone (rhGH) therapy is a long-term injection treatment that can be burdened by poor adherence. Although adherence rates are usually good in childhood, children and adolescents can be particularly stressed by daily injections, resulting in a low quality of life (QoL).Objectives: To assess the degree of adherence and stress related to daily rhGH treatment based on data reported by pa...

Objective: To evaluate the accuracy of IGF-1 in diagnosing children with abnormal (low) growth hormone.Design: a national multicenter cross-sectional studyMethod: Two hundred and seventeen patients with short stature (140 boys and 77 girls), age (5-18 years) were evaluated. Anthropometric measurements and pubertal stage evaluations were performed for all children. All patients unde...

Introduction: NS is a relative frequent cause of short stature (ST) in pediatrics and its diagnosis is based on a combination of typical facial features, ST, chest wall defects, cardiac defects, developmental delay, cryptorchidism, lymphatic dysplasia, and family history (“Van Der Burgt Criteria”, revised 2007). Around 50% of NS patients presents a pathogenic variant in the PTPN11 gene. The overlap with other conditions, phenotypic changes...

Background: Digital health solutions are paving the way for the management of long-term treatment with recombinant-human growth hormone (r-hGH) administration. Understanding the utility and challenges of adopting these digital health solutions is indispensable for improving adherence and achieving optimal growth outcomes. Clinical discussions were conducted to analyse healthcare professionals’ (HCPs) perceptions regarding the potential acceptance of digi...

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...

Objective: Children who are small for gestational age (SGA) and do not exhibit compensatory growth by the age of 4 years have been shown to benefit in their final height from growth hormone (GH) therapy. The GH-IGF1 axis stimulates physical growth, regulates metabolism and cardiovascular functions. Only one case of a child with GH deficiency presenting with atrioventricular (AV) block during GH therapy has been reported to date. Here, we describe the occurrenc...

Background: GM1 gangliosidosis falls in the category of endogenous metabolic disorders and is characterized by β-galactosidase deficiency. It is inherited in an autosomal recessive manner and is characterized by neurodevelopmental deficits, generalized hypotonia, dystonia and the presence of convulsions and also skeletal malformations such as a prominent forehead, kyphoscoliosis, brachydactyly and joint flexions. The association of the disease with growth...

Introduction: Congenital tufting enteropathy (CTE) is a rare autosomal recessive enteropathy that typically presents in early life and is often characterized by persistent diarrhea. Height standard deviation scores (SDS) and body mass indexes are generally low in patients with CTE. However, information about the effects of growth hormone (GH) therapy in these patients is lacking.Case Presentation: A 13-year-old girl with...

Background: Celiac disease (CD) is a chronic immune-mediated intestinal inflammatory disease due to gluten intolerance in genetically predisposed patients leading to mal-absorption followed by short stature, frequently associated to immune-mediated diseases (IDDM, autoimmune-thyroiditis, Addisson), syndromes (Down, Williams, Turner, selective IgA deficiency) and increased risk of non-Hodgkin and T-cell lymphoma. Its diagnosis is based on serological antibodies...

Introduction: Ellis-Van Creveld syndrome is a syndrome progressing with postaxial polydactyly, short extremities, short height, dystrophic and/or hypoplastic nails, dental and oral anomalies, congenital heart disease and radiological abnormalities. Variations in several genes like EVC, EVC2, DYNC2H1, DYNC2LI1, GLI, SMO, PRKACA and PRKACB are considered responsible for the etiology of the syndrome.Case: An 11 year and 5 m...

Introduction: Growth hormone therapy has been approved in the management of short stature secondary to various causes for many years. The safety of growth hormone therapy is questioned in different aspects, one of which is scoliosis development or progression.Cases: We are reporting two cases addressing the concerns of scoliosis and growth hormone (GH) therapy.First case: A 12 year...

Background: Idiopathic short stature (ISS) is a term used to describe a group of short children for whom no precise etiology has been identified. Many children - if not the majority - referred with short stature are designated ISS. We report the case of a child with idiopathic short stature receiving off-label therapy with recombinant human growth hormone (rhGH). GH treatment showed significantly good results at short and long-term follow-up.<p class="abst...

Introduction: Growth is a fundamental process in childhood, and growth disorders remain one of the most common reasons for referral to a paediatric endocrinologist. The GH-IGF1 axis plays a major role in the growth phase of childhood, with an important role alongside sex steroids during puberty, while during infancy thyroid hormones and nutrition are vital. Although a rare cause of short stature, GH-IGF1 axis disorders are extremely important because of the ef...

Malnutrition, including that caused by malabsorption, is the most common cause of growth failure in children. On the other hand, in children who receive total parenteral nutrition due to extremely severe forms of malabsorption disorders, which involves almost continuous intravenous infusion of nutrients (including glucose), a persistent, functional reduction in growth hormone secretion occurs. A female patient with extreme short bowel syndrome, fed almost entirely parenterally...