ESPE Abstracts

GR and GT are diamniotic monochorial preterm twins (32 GA), both AGA (GR: W -1 SDS, L -1.5 SDS; GT: W and L 0 SDS), with normal karyotype and array-CGH on amniotic fluid, with no major complications associated to prematurity. At birth GT presented bilaterally cryptorchidism associated with micropenis, GR presented normal male genitalia. In the first year of life a severe growth deceleration in length (from -3SDS to -5 SDS) was observed, mainly after six months of life in both ...

Background: Autoimmune hepatitis (AIH) and methimazole (MMI)-induced toxic hepatitis are both rare diseases in pediatric age.Case presentation: We present the case of a 15-year-old girl affected by idiopathic arthritis and autoimmune thyroiditis. The autoimmune thyroiditis was diagnosed at 13 years of age. At 15 years old she developed hyperthyroidism (TSH <0.01 mcU/ml, FT4 2.3 ng/dl, FT3 8.4 pg/ml, TRAb 18 IU/l) and was treated with MMI (0.28 mg/kg ...

We present the case of a five-day female admitted to our Paediatric Unit due to TSH elevation (bTSH 303 mIU/L) on routine neonatal screening for congenital hypothyroidism (CH). The patient was born at 38 weeks’ gestation by c-section presenting with adequate auxological parameters. Her mother suffered from Hashimoto’s disease, already diagnosed before pregnancy, and requiring Levo-thyroxine therapy (L-T4). Blood tests performed at five days of life revealed the pre...

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...

Introduction: Although there are several studies on the incidence of congenital hypothyroidism (CH), there are few data showing incidence and evolution of CH detected by the second newborn screening (NBS).Objectives: To assess the incidence of CH in Lombardia region and the percentage of patients identified by the 2ndNBS. To describe the clinical features and evolution of CH patients detected by the 2nd</...

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,...

DICER1, a gene located on chromosome 14q32.13, encodes a protein ribonuclease (RNase) IIIb that plays a central regulatory role in miRNA processing. DICER1 syndrome has an autosomal dominant inheritance and predisposes affected individuals to a wide variety of tumors, both benign and malignant. We describe the case of a 6-year-old girl, carrier of a DICER1 germline mutation, and affected by a differentiated thyroid carcinoma. At the age of 6 a first thyroid ultrasound revealed...

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...