ESPE Abstracts

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

Background: Prenatal growth restraint associates with increased oxidative stress – as judged by mitochondrial dysfunction – in pregnancies complicated by preeclampsia or diabetes, but it is uncertain whether this is also the case in uncomplicated pregnancies.Objective and hypotheses: To assess the link between fetal growth restraint and placental mitochondrial dysfunction, as reflected by changes in mitochondrial DNA content and superoxide dism...

Background: Severe GH deficiency (GHD) is associated with significant body composition abnormalities. However there is no data assessing initial body composition parameters in the children with partial GHD.Objective and hypotheses: Study objective was initial body composition assessment in the short stature children diagnosed for GHD.Method: 54 consecutively diagnosed for GHD short statured children (40 boys) in the mean age 10.83&...

Introduction: It is thought that sex hormone binding protein (SHBG) is involved in glucose homeostasis in addition to regulate the levels of sex hormones. Clinical studies associate reduced SHBG concentrations with insulin resistance (IR).Objective: To evaluate the relationship of SHBG with IR and hyperandrogenism markers in a group of adolescents affected with polycystic ovarian syndrome (PCOS), and how weight could affect these markers.<p class="ab...

Introduction: Developing an acute onset thyroid nodule is rare in children and usually associates with infectious or neoplastic disease; when linked to hyperthyroidism, the most likely diagnosis is toxic adenoma.Clinical description: 9-year-old boy with no relevant medical history was seen at the emergency department for acute cervical pain and tumor involving the left thyroid lobe with no inflammatory signs or history of trauma. Physical examination rev...

Introduction: As successful rates of haematopoietic stem cell transplantation (HSCT) are on the rise, late endocrine and metabolic effects of these survivors have become more prevalent.Aims: We aimed to characterise the endocrine abnormalities observed following HSCT.Subjects and methods: A retrospective descriptive study in paediatric post-HSCT patients (< 18 years-old) follow...

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

Background: Progranulin (PGRN) displays pleiotropic biological functions including on early embryogenesis, cell proliferation, lysosomal or neuronal functioning and wound repair, and has been proposed as a biomarker for metabolic diseases. Increased PGRN levels have been reported in type 2 diabetes, nonalcoholic fatty liver disease and in preeclampsia associated to placental dysfunction. However, the ontogeny of PGRN concentrations and the potential value of P...

Background: severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder. Recombinant human insulin-like growth factor (IGF-1) (rhIGF-1; Increlex® [mecasermin]) replacement therapy is EU and US-approved for treating growth failure due to SPIGFD. The long-term therapeutic objective of rhIGF-1 treatment in SPIGFD is to improve adult height (AH). Objective: to describe the characteristics, safety and effectiveness data ...

Introduction: ABCD syndrome is characterized by hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment, generally under 4 years old. This is a rare cause of pediatric hypercalcemia with only 7 cases published, but it is believed to be underdiagnosed. The suspected mechanism would be associated with overexpression of transient receptor potential channels (TRP) that modulate intestinal absorption of calcium, since TRP-M2 is encoded on chromosome 2...