ESPE Abstracts

Introduction: Subcutaneous fat necrosis (SCFN) is an uncommon inflammatory disorder of the adipose tissue. Though hypercalcaemia secondary to SCFN is a well-recognised entity, reported cases with persistence of symptoms requiring prolonged treatment as in our case are rare. There are also limited reports about the severity and duration of hypercalcaemia secondary to SCFN with possible correlation of the severity to the extensity of the skin lesions. We present a neonate who de...

Background: Diabetes insipidus (DI) is characterised clinically by the inappropriate production of large volumes of dilute urine even in the presence of clinical dehydration or deprivation of water. DI occurs either due to a deficiency or insufficiency of arginine vasopressin (AVP) hormone production. Hereditary DI accounts for <10% of the DI cases. As hyponatraemic seizures secondary to inappropriate use of desmopressin can occur, caution is required before a diagnosis of...

Background: IGF1 and IGF2 are major regulators of somatic growth acting mainly through the IGF1R. Variants in IGF1 and in IGF1R were identified to cause intrauterine and postnatal growth retardation but variants in IGF2 have not yet been reported.Method: In a multigenerational family four affected members (two siblings, one first degree cousin and the daughter of one sibling) exhibited severe growth retardation with heights between −4.2 and −...

Background: Congenital proopiomelanocortin deficiency (POMC) gene mutations cause early-onset obesity, hyperphagia and ACTH deficiency. In the subjects with this picture, neuropsychiatric (NP) features were rarely reported. Many Authors described an appetite loss during the topiramate treatment.Objective and hypotheses: To discuss NP features observed in a POMC deficient patient and to propose a therapeutic attempt to reduce the hyperphagia.<p class=...

Background: POMC plays a major role in central body weight regulation. Recently we have shown that a POMC hypermethylation variant is significantly associated with obesity in children and adolescents (Kuehnen et al. PLoS Genetics 2012).Objective and hypotheses: Here we report about our extended studies to elucidate the mechanism behind the occurrence of the POMC hypermethylation variant in obese individuals.<p clas...

Background: Primary IGF1 deficiency (PIGFD) is a rare condition defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. PIGFD is an approved indication for treatment with recombinant IGF1 (rIGF1). Its genetic causes remain largely unknown.Objective and hypotheses: To elucidate genetic causes of PIGFD.Method: Clinical phenotyping followed by trio-based whole-exome sequencing (WES) in 11 complete...

Background: Central precocious puberty (CPP) is a common condition in girls and has been associated with deterioration of final height (FH). Height prognosis (HP) is critical for the decision of treatment in CPP. There are several methods for predicting FH in CPP but none is completely reliable. Most methods consider bone age (BA), which is very imprecise, but there is no consensus on which method is the best to estimate FH.Objective: To compare the accu...

Background: Phthalates are industrial chemicals extensively used as plasticizers in a variety of commercial products. Di-(2-ethylhexyl) phthalate (DEHP) is one of the most frequently used phthalates. DEHP is readily metabolized to mono-(2-ethylhexyl) phthalate (MEHP), which is more toxic than its parent compound. There are some animal and in vitro studies suggesting that phthalates can disrupt hypothalamus-pituitary-thyroid axis.Objective and hy...

Background: We present two brothers with very distinct phenotype, possibly constituting a novel clinical and genetic entity. The common phenotype included red hair, obesity, myopathy, severe IGHD and, growth without growth hormone.Case presentation: At the age of 28 months the older brother had a height of 68 cm (−9 SD), his bone age was 6 months. The younger brother had a height of 62 cm at the age of 20 months (−5 SD), bone age 10 months. T...

Background: We present two brothers with very distinct phenotype, possibly constituting a novel clinical and genetic entity. The common phenotype included red hair, obesity, myopathy, severe IGHD and, growth without growth hormone.Case presentation: At the age of 28 months the older brother had a height of 68 cm (−9 SD), his bone age was 6 months. The younger brother had a height of 62 cm at the age of 20 months (−5 SD), bone age 10 months. T...