ESPE Abstracts

Background: β-hCG secreting germ-cell tumors (β-hCG-ST) are rare causes of Peripheral precocious puberty (PPP) in boys and usually located in intracranial region. Liver, retroperitoneum, testis and mediastinal cavity are the other localizations reflecting embryonic germ cell sites.Objective and hypotheses: We present a patient with PPP due to elevated β-hCG levels, but extensive efforts to find the source of elevated β-hCG was unrevea...

Background: Friedreich’s ataxia (FA) is an autosomal recessive neurodegenerative disorder characterised by progressive ataxia with limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, decreased vibratory sense and proprioception. The most common molecular abnormality is a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. Patients with FA are at risk of getting increased blood sugar levels, or ...

Background: Central hypothyroidism (CH) is caused by TSH and/or TRH deficiency leading to hypothyroxinemia with low, normal or mildly elevated TSH levels. Differentiation of CH with mildly elevated TSH levels from primary hypothyroidism (PH) can be difficult. However, this differentiation has important clinical implications (i.e. cortisol replacement before L-thyroxine).Objective and hypotheses: In this study, we constructed a nomogram all...

Background: Short stature is the most common presenting symptom in Turner Syndrome (TS). GH treatment helps alleviating short stature in TS, although response to treatment varies significantly.Objective and hypotheses: We aimed to evaluate the response to GH treatment and factors affecting this response in children with TS.Method: Forty-nine patients with TS diagnosed by cytogenetic analysis and who had been followed minimum of 1-y...

Itroduction: Thiamine responsive anemia (TRMA) known as Rogers syndrome; is an early-onset, autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes.Case: 3-months old male patient with neonatal diabetes was admitted to our outpatient clinic because of uncontrolled hy...

Background: Estimation of the child’s genetic height potential (target height) is an important tool in evaluating growth disorders. Midparental height (MPH) calculated as (Mothers height+Fathers height)/2±6.5 cm), used for this purpose, represents the child’s expected height based on parental heights.Objective and hypotheses: To evaluate the classical MPH calculations for our population and to explore the optimal MPH model using different ...