ESPE Abstracts

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

Background: Pituicytoma is a very low-grade glioma that originate in the neurohypophisis and infundibulum.Objective and hypotheses: Describe diagnosis and treatment of associated pituicytoma and ACTH-secreting adenoma in a 6-year-old girl.Method: Case report and literature review.Results: We report the case of a 6-year-old presented with growth failure and associated weight gain, premature pubarche, and hyper...

Background: Impaired linear growth and low IGF1 levels, strictly related to poor glycemic control have been reported in children with type 1 diabetes (T1DM).Objective and hypotheses: We studied growth and growth factors in 91 T1DM young patients, 54 males (age: 11.73±3 years, disease duration: 5.2±2.9 years). All subjects were on intensive insulin therapy: 72 children by multiple injection therapy (MI), 19 children by continuous subcutaneous in...

Background: An association between type 1 diabetes mellitus (T1DM) and idiopathic generalized epilepsy is reported. Some authors suggest an autoimmune mechanism mediated by antibodies to glutamic-acid-decarboxylase (GAD), that is an enzyme involved in the synthesis of the neurotransmitter GABA. Dravet syndrome (DS) is a rare, severe epilepsy disorder characterized by febrile hemiclonic seizures or generalized status epilepticus starting at 6 months of age. In classical DS, a d...

Background: The prevalence of childhood obesity is increasing worldwide and Glucagon-like peptide 1 analogs have emerged as a new tool for its management. To date, Liraglutide has been approved for the treatment of obesity in adolescents over 12 years of age by the FDA & EMEA and in Chile (July 2021).Objectives: evaluate the % decrease in BMI SDS and total body fat percentage in adolescents with obesity who received ...

Cribiform Papillary Thyroid Carcinoma has low prevalence. Our objective is to present a case and to emphasize future implications. We present a female 14.9 years old patient with PWS (del 15 q11-13 by methylation test) with a history of asthma, hepatic steatosis, increased Waist-to-Height ratio, HbA1c 5.86 % and C-Peptide 3.64 ng/mL. She had primary hypotiroidism since 7 years old treated with 25 mg/ day of levothyroxine and impaired fasting glucose since 10 years old with a B...

Background: The estimated estradiol (E2) dose required for pubertal induction in hypogonadal girls is about 1/10 of the adult dose. Previous studies have shown that it is possible to provide an individualized and physiological dose for pubertal induction by cutting the patch into smaller pieces. However, the manufacturers do not guarantee stability or utility of cut E2 patches, primarily designed for postmenopausal women, and have no interest in that eval...

Background: Early TS diagnosis permits early GH start and estradiol (E2) supplementation approaching adult height (AH) at normal age and within a normal range. However, higher age at diagnosis is still a challenge.Objective and hypotheses: The hypothesis from our long-term trials will result in knowledge for personalized treatment in order to obtain a psychological acceptable age at onset of puberty and still an attained AH within normal range...

Background: Small for gestational age (SGA) children have reportedly increased DHEAS levels during prepubertal years. However, steroid hormones have not been followed longitudinally in a healthy population compared to body composition.Aims and objectives: To evaluate steroid hormone patterns in prepubertal children correlated to visceral fat measures.Methods: Body composition was investigated with magnetic resonance (MR) of truncal...