ESPE Abstracts

Background: During early bone formation, mesenchymal stem-cells condense and differentiate into collagen type 2-expressing chondrocytes which form the cartilaginous bone anlagen. This anlage becomes enclosed by the perichondrium. The perichondrium consists of two layers, the inner cambium layer containing chondrocyte- and osteo-precursor cells and the outer fibrous layer important for mechanical and structural support. While the regulation of the growth plate is increasingly w...

The skeletal research field develops rapidly and has produced several exciting findings in the last year and includes advances in the treatment of rare skeletal disorders and an ever deeper understanding into the fundamental molecular mechanisms that control skeletal development, metabolism, growth, and mineralization. The targeting of the C-type natriuretic peptide (CNP) pathway and options to directly antagonize the overactivity of the FGFR3 pathway in achondroplasia continu...

Background: Heterozygous loss-of-function mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (SSOAOD; OMIM#165800). ACAN mutations is a relatively common finding in idiopathic short stature (ISS) and has been reported to be the cause of growth failure in approximately 2% of children with ISS. However, the underlying cellular and molecular mechanisms by ...

Background: Childhood obesity is a serious medical condition that may well be prevented by the life style modification. Therefore school-age children awareness of the problem is crucial for the educational programs.Subjects Methods: This work is a part of the complex project "Assessment of the current nutritional status, nutrition-related health problems in school-age children in Ukraine". 392 school-age children...

Objectives: Heterozygous mutations in the aggrecan gene (ACAN) are associated with idiopathic short stature, with or without advanced bone age (BA), osteochondritis dissecans (OCD) and early onset of severe osteoarthritis (OA). Variable features also include midface hypoplasia, brachydactyly, short thumbs and intervertebral disc degenerative disease.Methods: We reviewed 173 radiographs in 22 individuals (8F:14M), (three shoulders, 10 hands, 10 w...

Background: Early TS diagnosis permits early GH start and estradiol (E2) supplementation approaching adult height (AH) at normal age and within a normal range. However, higher age at diagnosis is still a challenge.Objective and hypotheses: The hypothesis from our long-term trials will result in knowledge for personalized treatment in order to obtain a psychological acceptable age at onset of puberty and still an attained AH within normal range...

Background: Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, as well as light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in one of the major RA-metabolizing enzymes CYP26B1 causes advanced bone age, premature epiphyseal fusion, and craniosynostosis. We studied a patient with markedly accelerated skeletal and dental development, retinal scarring, and autism-spectrum disease.</...

Background/Aim: Currently, the minimum of the GH peak (pGH) to GH provocative stimuli, including the glucagon stimulation test (GST), has been arbitrary set in children at 7 µg/L, irrespective of gender and age. Several doses (fixed or per bodyweight) and ways of administration (IM or SC) of glucagon are being used in daily practice. This retrospective study explores the influence of gender, age, and adiposity on the pGH after a maximally effective glucag...

Background: Granulosa cell tumors (GCT) originate from sex cord/stromal tissue in the gonad. They are typically located in an ovary, but extra-gonadal localisation exists. These tumors are extremely rare in children and no systematic review has been published. The objective of this systematic review is to examine the following questions: What is the clinical picture of girls with a GCT? How are these patients treated and what is their prognosis?<p class="a...

Background: Most children with idiopathic short stature (ISS) have a delayed bone age (BA). ISS with advanced BA is far less common. We studied three families with autosomal dominant short stature, unexplained BA acceleration, and premature growth cessation.Objective and hypotheses: To identify the genetic cause of this condition and describe its clinical spectrum.Method: Whole exome sequencing was performed in selected individuals...