ESPE Abstracts

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adults’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

Mosaic variegated aneuploidy (MVA) syndrome represents a rare autosomal recessive disease characterized by aneuploidies with gain and loss of multiple chromosomes. We describe case of two Moroccan brothers with MVA2, due to CEP57 mutations. Patients are 17 and 13-year-old male siblings of a Moroccan healthy consanguineous couple. Oldest brother was delivered at 35 gestational weeks after IGR diagnosis, small for gestational age (SGA, 1300 grams, -3 SDS). Younger patient’...

Six-year-old female, diagnosed with GH deficiency at another Center (H: -3.13SDS; H peak with clonidine 5.7ng/mL, with insulin 1.2ng/mL). Brain MRI at diagnosis: small pituitary gland, ectopic neurohypophysis, normal stalk, right internal carotid artery aplasia. At 10 years onset of polyuria-polydipsia syndrome (PPS) (4L/day–154ml/kg/die); mood disorders and ADHD diagnosis were also reported. A fluid deprivation test was performed, lasting 22 hours (pre: S-Osm 275mOsm/L,...

Although craniopharyngiomas are low-grade tumours, long-term survivors frequently suffer from severe morbidity due to hypothalamic lesions, such as hypothalamic obesity, that is largely resistant to lifestyle modification and pharmacotherapy. We investigated the efficacy of bariatric surgery in two patients with craniopharyngioma-related hypothalamic obesity during 18 months of follow-up. Patient n1, diagnosed with craniopharyngioma and treated with complete surgical excision ...

A 5-years-old boy was admitted because of polydipsia and polyuria. His family history was unremarkable. After water deprivation test (10h), laboratory test showed high levels of serum sodium (150.1 mmol/L), low urine osmolarity (88 mOsm/kg) and high serum osmolarity (301 mOsm/kg) consistent with the diagnosis of central diabetes insipidus (CDI). He started therapy with oral desmopressin with clinical improvement. Brain MRI revealed pituitary stalk thickening (3 mm), no hyperin...

A 8 years and 7 months old male presented with short stature related to his target height. No history of bones fractures. The patient was 120.7 cm (- 1.77 SDS). Physical exam demonstrated peculiar facies, relative macrocephaly, delayed tooth eruption and pectus carinatum. He referred during the clinical evaluation diffuse bone pain and weakness, mostly exacerbated by sport activity. A first diagnostic investigation had already been made showing low serum alkaline phosphatase a...

Introduction: Leydig cell tumors are rare (3% of testicular neoplasms). 80% of cases occurs in adult population, although a quarter is described in prepubertal patients older than four years. The clinic differs according to the patient's age. Activating mutations, acquired and limited to the tumor tissue, are described in exon 11 of the LH receptor gene. And in mixed Sertoli-Leydig tumors activating mutations of the Gs-alpha subunit of the stimulat...

Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed, and reproductive capacity is reached. Pubertal timing is not only determined by genetics, but also by endogenous and environmental cues, including nutritional and metabolic signals. During the last decade, we have learned much regarding the essential roles of kisspeptins and the neuropeptide pathways that converge on these...

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some ch...