ESPE Abstracts

Case report: We describe a 4-year-old girl, born by vaginal delivery after 41 weeks gestational (length: 55 cm, 99thcentile, weight: 4.8 kg, 99th centile). TSH on newborn screen was normal. Evaluated in the first month of life by gastroenterologists for severe constipation required several hospitalizations and investigation by endoscopy, biopsy, and rectal manometry. Constipation was treated by continuous polyethylene glycol administratio...

A was born at 38+4 weeks by eutocic delivery, with adequate auxological parameters and unremarkable perinatal history. She was admitted to our center at 15 days of life after the second screening for congenital hypothyroidism (CH) resulted positive (bTSH 48 mU/L); the first test was negative. Serum blood tests confirmed the diagnosis of CH (TSH 157 mU/L, FT4 0.96 ng/dl, FT3 8.44 pg/ml, negative thyroid autoimmunity). Thyroid ultrasound showed a gland of normal size. Therefore,...

Background: Congenital isolated GH deficiency (cIGHD) is a rare genetic disease occurring mostly in consanguineous families. It is caused by hGH-1 gene deletion or GHRH – receptor mutations.Aim of study: To collect retrospectively size at birth, developmental mile stones, linear and head growth and pubertal development before and during hGH treatment.Subjects: The medical charts of 37/41 patients with cIGHD (21 m, 16 f) contai...

Primary Xanthomatous Hypophysitis (XH) is the rarest histological subtype of hypophysitis. Here we describe the case of a young 9-year-old girl diagnosed with this condition. The patient presented with a four-month history of an intermittent temporal-frontal headache that became gradually worse and constant for three days prior to admission. She did not have clinical signs or symptoms suggestive of increased intracranial pressure but had mild ataxia. On admission she was febri...

Introduction: The incidence of type 1 and type 2 diabetes mellitus in children and adolescent has been on the rise for the last decades. While the reasons behind these are not known, one possible explanation for the emergence of type 2 diabetes in children is the increase of obesity and decreasing physical activity. Adolescents are at the cross roads between childhood and adulthood and that makes classification of their diabetes mellitus at presentation a diagnostic challenge....

Background: Neonatal hyperthyroidism is almost always transient and related to the passage of maternal thyroid stimulating immunoglobulins (TSI). Positive TSI levels in a neonate is often diagnostic of neonatal Graves disease. The manifestation of symptoms has not been well characterized in premature infants.Clinical Case: A female infant was delivered at 27×4/7 weeks gestational age, with a birth weight of 827 g. Her mother was diagnosed with Grave...

Background: Diabetes mellitus is not characteristic of Beckwith Wiedeman Syndrome (BWS). If anything, BWS is associated with hypoglycaemia secondary to hyperinsulinaemia. A case of permanent neonatal diabetes mellitus and BWS have never been reported from our setting.Objective and hypotheses: To report on a 17 years old boy with BWS diagnosed with permanent neonatal diabetes mellitus at 4 months of age and to determine the molecular genetics study which ...

Background: PCC and PGL are rare in CYP. National children’s registry data reveal an annual incidence of 0.2 and 0.3 per million in 5–9 and 10–14 year age groups respectively. Almost all result from a genetic predisposition, can present with non-specific symptoms, and represent a significant management challenge.Aims: We aimed to provide the first interdisciplinary national management guidelines using the AGREEII framework for CYP with con...

Background: In newborns, physiological transition of glucose metabolism is typically completed within 48–72 h of life, yet prolonged hyperinsulinemic hypoglycemia (HH) beyond 5d of life is not uncommonly encountered, especially in infants at-risk of hypoglycemia. Management includes intravenous dextrose while awaiting spontaneous resolution (SR) of HH or Diazoxide (DZX) therapy. Since DZX acts by suppressing insulin release, concerns arise whether weight gain in infancy w...

Introduction: Craniopharyngioma (CP) is a rare and highly recurrent tumor with no available nationwide data.Objective: This retrospective study aims to characterize patients with CP treated at a national referral center.Methods: Clinical records of patients aged 18 years or younger diagnosed with CP were analyzed. Data including clinical presentation, biochemical profiles, MRI find...