ESPE Abstracts

Background: Dystopia thyroid is an anomaly of development and is the result of a violation of embryogenesis and often remains unrecognized, the true frequency of the dystopia of the thyroid gland is not known, described 800 cases of ectopic thyroid gland in the region of blind holes of the tongue in adults and 80 cases in children, half of them diagnosed congenital hypothyroidism.Objective and hypotheses: To reveal some features in the diagnosis and trea...

Background: Kenny-Caffey syndrome type 1 is a rare autosomal recessive syndrome caused by mutation in the TBCE gene (Tubulin specific chaperone E) located in the chromosome region 1q42-q43. Less than 60 cases have been reported in the literature especially in the Middle East and Arabic countries. This syndrome is characterized by growth retardation, dysmorphic features, with thickened bone cortex and medullary stenosis, hypoparathyroidism, teeth anomalies. Hypopituitarism with...

Introduction: The role of enlarged adenoid tissue has been long discussed in terms of causes leading obstructive sleep apnea. Sleep disorders in children with adenoid vegetation impair quality and duration of REM sleep where GH secretion is higher. We also thought that cortisol that displays a circadian rhythm might be also affected by sleep disorders. For this purpose, we planned to determine presence of neurosecretory dysfunction (NSD), time and level of cortisol peak in the...

Background: Papillary thyroid cancer (PTC) is the most common endocrine malignancy in children. PTC shows more aggressive progress in children than in adults in respect to local and distant metastases. Here we presented a PTC case with primary pulmonary symptoms and pulmonary metastasis.Case: A 15.5-year-old male patient presented to the clinics with cyanosis and respiratory difficulty for the last 2 years. He had dyspnea, central cyanosis, clubbing, and...

Background: In pediatric practice, as a rule, differential diagnostics between the three main types of diabetes insipidus DI is to be made: central DI, renal DI and physiological polydipsia of infants – the separation of which is extremely important for the prescription of pathogenetic treatment.Objective: To make a differential diagnostics of various forms of DI.Methods: The study involved 14 patients (ten girls and four boys...

Background: Multiple anterior pituitary hormone deficiency (MPHD) may present in the newborn period or in early infancy with hypoglycemia, prolonged cholestatic jaundice micropenis, undescended testes due to GH, ACTH, and LH deficiency. Central hypothyroidism is becoming manifest later, less severe than primary hypothyroidism, usually without intellectual impairment. A male patient was admitted to our clinic with severe short stature at the age of 2 years, born with normal len...

Background: A 3.6-year-old Caucasian male presented with rapid onset of deep voice, facial hair, Tanner stage 2 testes, Tanner stage 3 pubic hair, penile length 9.5 cm, growth velocity (GV) 13.1 cm/year, and bone age 7 years. Evaluation was consistent with central precocious puberty and ruled out other pathology. Standard weight-based gonadotropin-releasing hormone agonist (GnRHa) therapy was initiated. GV increased to 16.6 cm/year, puberty advanced further, and bone age was 1...

Background: Diabetic autonomic neuropathy (DAN) is predictive for subsequent mortality mainly due to terminal renal insufficiency. DAN is screened by cardiac tests based on heart rate variability (HRV).Aim: To assess cardiac autonomic neuropathy (CAN) and its predictive value for survival in children with Mauriac syndrome.Material and methods: The study included 12 patients with Mauriac syndrome (growth retardation, hepatomegaly an...

Background: Congenital leptin deficiency (CLD) is characterized by severe early-onset obesity due to hyperphagia and impaired satiety. The impact of obesity in obstructive sleep apnoea hypopnoea syndrome (OSAHS) was originally reported as mechanical, but recent data suggest that adipokines may influence central ventilation. We highlight that treatment with recombinant human leptin (RHL) in CLD with OSAHS improves ventilation before weight loss.Case prese...

Background: Obesity ignites numerous health and psychosocial problems and is associated with various comorbidities. BMI is also independently associated with improved risk for numerous kidney disorders. As renal length is considered a vital parameter in the clinical assessment of renal patients, normal renal length has to be defined in accordance to BMI. The aim of this study is to define normal kidney length in obese children, comparing ultrasound measurements of the kidney l...