ESPE Abstracts

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-...

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: 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...