ESPE Abstracts

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

The epidemic spread of obesity in children has triggered the commitment of scientific research, which has allowed us to understand its genetic basis; the different forms of genetic obesity share common clinical aspects, making it difficult to achieve a molecular diagnosis based only on our clinical suspicion. We report a female patient presented with neonatal hypotonia, hyperphagia and early onset excessive weight gain, strabismus and high hypermetropia. Regarding her neurodev...

Obesity, with its complications, emerges as a major contributor to the global health burden becoming pandemic. It's an extremely complex disorder resulting of interaction of biological, social and behavioural factors that cause increase in food intake and reduction in energy expenditure. Although few monogenic forms and indeed several susceptibility loci have been described, the molecular basis underlying early onset obesity remain largely unknown. GWAS revealed consistent...

Aggrecan, encoded by the ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. A heterozygous ACAN mutation has been reported as a major cause of idiopathic short stature, it causes an accelerated bone age maturation and premature growth cessation. Recently, the effectiveness of GH treatment for achieving an appropriate adult height has been reported in several cases with ACAN mutations. We report the case of a 3 years and 2 months old boy, with ...

Background: Endocrine disruptors (ED) are chemicals that can mimic hormones and interfere with their receptors, causing endocrinological abnormalities.Clinical report: We present the case of a previously healthy, melanodermic, two-year-old female, who had a three-month evolution of clitoromegaly and generalized hypertrichosis. Endocrine blood work showed suppressed serum androgens suggesting steroid exogenous contact. Karyotype, bone age...

Background: Multiple Endocrine Neoplasia type 1 (MEN-1) is a rare and underdiagnosed syndrome caused by inactivating mutations of the tumor suppressor gene MEN-1 that predisposes to multiple tumors classically situated in the anterior Pituitary, Parathyroid, and Pancreas. The mutation is transmitted in an autosomal dominant way, and for this reason, the screening of all first-degree relatives is mandatory afte...

Introduction: Glucose sensor usage is increasing in the paediatric type 1 diabetes population. The sensor downloads can provide valuable information about glycaemic levels over a 90-day period and generate an estimated HbA1c based on the average glucose level.Aim: We aimed to test whether the sensor-estimated HbA1c over 90 days was an accurate prediction of the measured HbA1c and whether its accuracy correlated with perc...

Background: Cystic fibrosis-related diabetes (CFRD) is the most common co-morbidity in association with cystic fibrosis. Cystic fibrosis related diabetes is predominantly an insulin deficiency state it shares features of both type 1 and type 2 diabetes, yet there are important differences, which necessitate a unique approach to diagnosis and management. Development of cystic fibrosis related diabetes is associated with a worse lung function, poorer nutritional status, and more...

Background: Premature ovarian failure (POF) is uncommon in pediatrics and when occurs during the adolescence is typically iatrogenic or due to chromosomal anomaly. Also many genes have been identified that contribute to the development of POF, and most of these mutations are extremely rare.Objective: We describe a case of 15 years old female presented short stature and secondary amenorrhea, after a normal puberty but without peak height velocity. She was...

Background: Cushings syndrome is a rare entity in children and generally it presents a female to male predominance. The most common cause in childhood is iatrogenic Cushings syndrome related to chronic administration of glucocorticoids or ACTH. Endogenous Cushings syndrome is divided into ACTH dependent (ACTH overproduction due to pituitary adenoma or ectopic production) and in ACTH independent causes (surrenal adenoma, carcinoma, or bilateral hyperplasia).<p class="abstex...