ESPE Abstracts

We are in an exciting and interesting time, when pediatricians and reproductive endocrinologists across the globe rise to the challenge of providing fertility services for people with a history of gonadotoxic diseases. Indeed, developments in numerous medical fields have improved long-term survival rates for many diseases that strike children and young adults. However, to survive is no longer enough. The emphasis is shifting, to enable people to live a life as normal as possib...

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

Background: Encephalopathy associated with autoimmune thyroid disease (EAATD) is very rare in pediatrics. Contributing factors include: Sudden change is thyroid levels, cerebral vasculitis,endothelial inflammation or immune complex deposition, global cerebral hypoperfusion, as well as cerebral tissue-specific autoimmunity.The case: A 16-year-old female was diagnosed with hyperthyroidism and treated with Radio Iodine Ablation (RIA). Her total T4 level was...

Background: Although differences in pubertal timing alters frequency of indicators of attained stature at the extremes, its magnitude is unknown across ethnic groups of US youths.Methods: We performed analyses of anthropometry and Tanner staging data of 3206 cross-sectional national sample of youths ages 8–18y (53% male (n=1606), 72% Non-Hispanic White (NHW), 9% Mexican American (MA) and 19% Non-Hispanic Black (NHB). Specialized Tanner-stag...

Background: Stunting is a common reason for consultation in pediatrics, several etiologies are responsible, although endocrine causes is rare, it is important to make the diagnosis in order to provide early adequate treatment. however the treatment by rGH is usually well tolerated, side effects should be known, including the possibility of retinal edema revealing intracranial hypertension.Objective and hypotheses: Our purpose is to report a side effect o...

Our patient was a 19-year-old female who was referred for evaluation of secondary amenorrhea and underdeveloped secondary sexual characteristics, having undergone her first and only menstrual cycle at age 16. She had experienced four episodes of hypoglycemia during her childhood; two were associated with seizure activity. She was evaluated by endocrinology after her second episode of hypoglycemia at 3 years of age and no cause could be identified. She also had learning difficu...

Background: Analysis of steroids by gas chromatography-mass spectrometry (GC-MS) defines a subject’s steroidal fingerprint. Here, we compare the steroidal fingerprints of obese children with or without liver disease to identify the ‘steroid metabolomic signature’ of childhood non-alcoholic fatty liver disease.Methods: Urinary samples of 85 children (43 girls) age 8.5–18.0 with obesity (BMI >97%) were quantified for 31 steroid meta...

Context: Analysis of steroids by gas chromatography – mass spectrometry (GC-MS) defines a subject’s ‘steroidal fingerprint’. Here, we clustered steroidal fingerprints to classify childhood obesity by ’steroid metabolomic signatures’.Methods: Urinary samples of 87 children (44 F) age 8.5–18.0 with obesity (BMI >97%) underwent solid phase extraction, enzymatic hydrolysis and derivatization. 31 steroids metabolites wer...

Aim of the Study: Cryptorchidism occurs more frequently in CF-children, and malformed epididymis was found more in cryptorchid boys with abrogated mini-puberty. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is transporter protein that acts as a chloride channel. Specifically, CFTR is associated with spermatogenesis and fertility.Patients and Methods: Testicular biopsies for histological and RNA analysis from...

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...