ESPE Abstracts

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

Background: Conflicting outcomes have been reported about the role of low IGF1 levels in predicting irradiation-dependent GHD in CCS. IGF1 <−2SD had a sensitivity between 28 and 47% in different studies, but these results were drawn from small samples of patients or from mixed cohorts including patients with GHD due to different aetiologies.Objective: Our aim was to analyse the screening role of low IGF1 levels in CCS at risk of developing GHD ...

Background: Cushing’s disease, due to ACTH-secreting pituitary adenomas, is rare in the pediatric age (0.2–0.5/ million people per year), although accounts for 75–80% of Cushing syndrome in childhood compared to 49–71% in adulthood. We report clinical presentation, diagnostic workup and treatment of a new case with major therapeutics problems.Case report: A 15-year-old girl was referred to our clinic because of secondary amenorrhea, a...

Background: Growth hormone deficiency (GHD) is the commonest hypothalamic-pituitary (HP) disorder in cancer survivors. The only few studies in literature addressing GH efficacy in a large cohort of patients concluded that, though improving height outcome, GH therapy may not entirely restore final height (FH) potential according to mid-parental height (MPH). Thus, in order to optimize outcome, more information on factors influencing growth response in these chi...

Introduction: The leptin-melanocortin pathway is a well-studied pivotal player of body weight regulation and energy homeostasis. Pathogenic mutations of the genes involved in this pathway may result in early-onset severe obesity (ESO).Case Report: We hereby report the case of a 14-year-old girl who was referred to our pediatric outpatient clinic for the evaluation of ESO. Her parents were non-obese first cousins born in Morocco. At the t...

Background: It is often difficult to establish whether hyperthyrotropinemia in preterm newborn is a simple physiologic energy sparing phenomenon or a true hypothyroidism requiring replacement treatment.Objective and hypotheses: This study aimed to find in what extent thyroid function in the preterm newborn can be influenced by clinical characteristics and complications.Method: We studied 35 preterm newborn, gestational age (GA) 32....

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...

Background: Neuroendocrine tumors (NETs) represent a complex entity of neoplasm arising from different cell types of neural crest origin. They can produce and/or secrete various hormones or vasoactive substances. Usually sporadic, they can occur in association with other cancers, as part of a multiple endocrine neoplasia type 1 (MEN1), von Hippel–Lindau disease, von Recklinghausen, tuberous sclerosis.Case report: We report a case of neuroendocrine t...

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...