ESPE Abstracts

Introduction: Patients with congenital adrenal hyperplasia (CAH) develop advanced bone age (BA) frequently. Treatment with aromatase inhibitors can slow down bone maturation and improve final height in cases of CAH. However, safety is not clear at this point.Case Presentation N 1 15.5 yrs. old boy was diagnosed with congenital adrenal hyperplasia, salt-wasting type at 4.9 years of age. His genetic analysis revealed that ...

Introduction: Congenital deficiency of the leptin receptor is an extremely rare cause of early-onset monogenic obesity with rapid weight gain and compulsive overeating. LEPR mutations is responsible for extreme form of obesity associated with other endocrine abnormalities and respiratory tract infection. Till date, approximately 50 families have been reported to have mutations in the leptin receptor gene.Case: 9-year-old...

Background: Testosterone therapy is recommended for management of puberty from the age of 12 years in boys with Duchenne Muscular Dystrophy(DMD) in accordance with the 2018 international standards of care. The majority of boys loose ambulation in mid to late adolescence. Height measurement is problematic in these adolescents s as lower limb contracture can be common and estimated height from segmental body part measurements generally over-estimate height.<...

Background: Transgender individuals increasingly present at gender services in childhood. Consequently, to suppress pubertal development, more adolescents are long-term exposed to gonadotropin-releasing hormone analogues (GnRHa), from onset of puberty until start of gender-affirming hormones (GAH), around 16 years. Prolonged GnRHa may compromise bone health more than shorter-term treatment. If earlier start of GAH, when psychologically indicated, may partially...

Background: Subjects born small for gestational age (SGA) are at higher risk for metabolic, hormonal and reproductive problems later in life and about 2–10% of children born SGA do not catch-up in height. All these changes may influence bone mineral density (BMD).Aim: To evaluate hormonal profile and BMD in adolescents born SGA in comparison to their peers born appropriate for gestational age (AGA).Methods: 103 children were e...

Background: Biologic therapy may improve bone health, body composition, and muscle function in children with inflammatory bowel disease but the extent of improvement are unclear.Objective and hypotheses: To evaluate bone and muscle mass in children with inflammatory bowel disease (IBD) following infliximab (IFX) therapy.Method: Prospective longitudinal study of 19 children (12M), 17 Crohn’s disease (CD), one ulcerative colitis...

Background: We previously reported on the strong predictive value of the muscle-to-fat ratio (MFR) z-score in the development of early-onset metabolic syndrome components in children with overweight/obesity. Data on the role of the balance between muscle and fat in the development of childhood onset nonalcoholic fatty liver disease (NAFLD) are sparse. In the current study we explored the interplay between MFR and surrogate markers of NAFLD in children with ove...

Background: Pseudohypoparathyroidism type 1A (PHP1A) and PseudoPHP are caused respectively by maternal and paternal mutations involving those GNAS exons that encode the alpha-subunit of the stimulatory G protein (Gsα). Common to different forms of PHP1B is a loss-of-methylation (LOM) at one or several maternal GNAS exons, which likely reduces Gsα expression in certain tissues. In most autosomal dominant PHP1B variants (AD-PHP1B), LOM is restricted t...

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

Background: Chronic hemolytic anemias may compromise growth through multiple mechanisms. To date, no data exist on growth and body composition (BC; bone, muscle and fat mass) of children and adolescents with chronic hemolysis.Purpose: To evaluate growth and BC of patients with thalassemia intermedia (not on regular transfusions; thal-intermedia), alpha-thalassemia and congenital spherocytosis....