ESPE Abstracts

Background: Short stature has been associated with a reduction in health-related quality of life (HRQoL) and more problem behavior in children and adults. In adolescents who were treated with growth hormone (GH) because of persistent short stature after being born SGA, an increase in HRQoL and decrease in behavioral problems was seen during or right after cessation of GH-treatment. However, long-term data, to analyze if these positive effects remain many years...

Introduction: Acromegaly is a rare disorder, developed by overproduction of growth hormone (GH) and insulin-growth factor 1 (IGF-1), in most cases based on a pituitary adenoma. The increased IGF-1 and GH levels lead to the growth of acres and organs as well as metabolic changes. When manifesting before epiphyseal closure, a giant growth develops.Case Report: A Ukrainian girl presented at the age of 14 years with enlargem...

Introduction: Sulfation is required for the metabolism of numerous compounds, including proteoglycans, steroid hormones, neurotransmitters, toxic chemicals, and drugs like acetaminophen. The sulfate transporter SLC13A1 is responsible for the intestinal absorption and the renal reabsorption of inorganic sulfate, but loss-of-function mutations in this gene have never been described in man. Here, we describe a male with a biallelic loss-of-function variant, i.e.,...

Introduction: Growth hormone (GH) treatment is essential for growth in children with GH deficiency. Also short children born small for gestational age (SGA), and children with syndromes like Turner Syndrome (TS), Noonan Syndrome (NS) and Silver Russel Syndrome (SRS) can benefit from GH treatment. For children with needle anxiety GH delivered by a jet device can be a solution for the daily subcutaneous treatment for many years. In 2021, a global recall of the o...

Background: Congenital hypothyroidism (CH) is a common and preventable cause of mental retardation in children, and is detected using dried blood spots in many neonatal screening programs. Upon suspicion of CH, plasma free thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations are measured. CH can be of thyroidal or central origin (CH-T and CH-C, respectively). While CH-T diagnosis is based on an elevated plasma TSH in combination with a low FT4,...

Background: Measurement of testicular volume is important when conditions associated with a delay or advance in the onset of puberty, or micro- and macroorchidism, are suspected. Measured testicular volumes must be compared with reference data, preferably expressed in S.D. curves using the LMS method, as is routinely done for many auxological measurements in pediatrics. The current study therefore aimed to construct LMS-smoothed age-reference charts for testicul...

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

Background: Paediatric obesity is a multifactorial disease characterized by an imbalance between energy intake and expenditure. In rare cases, obesity is caused by underlying medical disorders arising from disruptions in the leptin-melanocortin pathway, which regulates satiety and energy expenditure.Aim: To investigate resting energy expenditure (REE) in relation to body composition in children and adolescents with sever...

Introduction: Patients carrying homozygous IGF1 loss-of-function mutations are extremely rare and show severe pre- and postnatal growth failure, microcephaly, developmental delay, retrognathia and sensorineural deafness. Heterozygous variants in IGF1 appear to be more common in short stature, but only few cases have been reported in detail. Therefore, clinical features and growth response to recombinant human growth hormone (rhGH) therapy are...

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...