ESPE Abstracts

Background: In pediatric patients multiple pituitary hormone deficiency (MPHD) can be caused by mutations in pituitary-specific transcription factors. Among those, mutations in PROP1 gene account for ~50% of genetically determined cases of CPHD. Regarding morphology, the anterior pituitary can be normal, hypo-/aplastic or enlarged.Results: We present two unrelated patients referred for evaluation of growth retardation. Both had profound growth retardatio...

Langerhans cell histiocytosis (LCH) represents a spectrum of rare disorders characterised by idiopathic infiltration and accumulation of abnormal histiocytes (i.e. the Langerhans cells) within various tissues. Bone is the most frequently affected tissue in children with LCH, with unifocal involvement being more common than multifocal involvement. Some of these lesions can cause severe pain and lead to pathological fractures. We describe a case series of 2 patients who had rece...

Science was formerly an integral part of philosophy, but these two broad disciplines have gradually grown apart and are now typically viewed as completely different endeavors. In this talk, I will argue in favor of a renaissance in the integration of science and philosophy. I will argue first that philosophy can fruitfully contribute to science. I will take the example of stem cells in various contexts (homeostasis, regeneration and regenerative medicine, cancer) to illustrate...

Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are reported in clinical practice of reproductive endocrinology. They are some of several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis, but accurate confirmation of Mullerian agenesis can be extremely challenging by image modaliti...

Background: Short stature can be caused by mutations in a multitude of different genes. Cockayne Syndrome is a rare growth disorder marked by progressive growth failure, neurologic abnormality. The current report describes a patient with severe short stature and neurologic abnormality.Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. The gene wa...

Background: Pediatric Endocrine Nurses are experts in caring for children with Endocrine conditions. Many nurses do not have the confidence, knowledge and technical skill set to produce poster presentations that allow them to share this expertise.Objective and hypotheses: This session will give Pediatric Endocrine Nurses an opportunity to hear how a poster presentation can be developed, from an idea to the final product. Nurses will feel empowered to tak...

Ectopic calcifications rarely manifest in the pediatric population. However, especially when present in arteries calcifications are often associated with severe complications. Ectopic calcification can be viewed as a phenomenon arising in a state of imbalance between systemic activators and inhibitors of calcification. Within recent years, research has led to the discovery of intricate networks regulating the systemic phosphate/pyrophosphate ratio, which seems to play an impor...

Background: Multiple daily injections of insulin for children and young people with diabetes can be very daunting and, some have a phobia of needles. As a result, for some individuals, the use of an i-port device can be life-changing and help with their diabetes management. The i-port is an injection port that enables diabetes patients to administer their insulin without having to puncture their skin multiple times in a day. In most cases, the i-port can stay ...

Pituitary gigantism is a rare disorder caused by excess of GH/IGF-1 due to GH-secreting lesions, that occurs before epiphyseal closure leading to increased linear growth. These cases have more aggressive features of pituitary disease than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to treat. Over the past two decades several molecular defects that cause GH-secreting pituitary adenomas have been identified, in...

Early life events can profoundly affect an individual's metabolic phenotype, inducing adaptive responses that may be protective in utero but potentially disadvantageous for long-term health. Indeed, environmental cues during sensitive windows of development may result in altered growth and lead to an increased risk of cardiovascular and metabolic alterations later in life. In this talk, I will discuss several models of exposure to early life events, which were the top...