ESPE Abstracts

Case report: A 10-year-old Italian girl presented with a painless, hard swelling in left fronto-orbital region noted two years earlier. She had no headache or other symptoms; ophthalmologic evaluation revealed no signs of intracranial hypertension; the visual field showed a reduced level of sensitivity in the upper sector of the left eye.Her previous medical history was not relevant except for a mild head injury reported two years earlier. The girl was a secon...

Background: Newborn screening for congenital adrenal hyperplasia (CAH) is based on the determination of 17-hydroxyprogesterone (17OHP) on blood and its need is confirmed by the most recent guidelines on the subject. In Italy this screening is not mandatory, and its application is on a regional basis. Among its disadvantages, it is well known the high frequency of false-positives, in particular in premature babies and those born small for gestational age. Howev...

Background: Hyperthyroidism is rare in childhood and adolescence and Graves’ disease accounts for approximately 96% of pediatric cases of thyrotoxicosis.Case Report: A 12-year-old girl, with no relevant family or personal history, was examinated for a thyroid mass noticed a few days before. She also reported excessive sweating of the hands and mild psychomotor agitation. Clinical examination revealed, in addition to the right thyroid mass, other sig...

Background: Congenital proopiomelanocortin deficiency (POMC) gene mutations cause early-onset obesity, hyperphagia and ACTH deficiency. In the subjects with this picture, neuropsychiatric (NP) features were rarely reported. Many Authors described an appetite loss during the topiramate treatment.Objective and hypotheses: To discuss NP features observed in a POMC deficient patient and to propose a therapeutic attempt to reduce the hyperphagia.<p class=...

Context: Pituitary apoplexy is rare endocrine emergency, resulting from ischemia and/or hemorrhage and necrosis of a pituitary tumor (typically an adenoma). Children and adolescents show severe headache sometimes associated with cranial neuropathies from compression of the optic chiasm or the cavernous sinus.Case presentation: A 15-year-old boy was admitted with severe headache and vomiting since 3 days, without visual d...

Context: Mitochondrial encefalo-cardio-myopathy due to TMEM70 mutation is a very rare disease with frequent neonatal onset accompanied by laptic acidosis, hyperammonemia and 3-methylglutaconic aciduria.Case presentation: Patient DT presented at 7.5 years due to short stature (height -3.11 SDS, MPH -1.09 SDS; weight -4.41 SDS), in the context of a complex syndromic picture characterized by intrauterine growth retardation,...

Background: The Wilms tumor suppressor gene 1 (WT1) is essential for kidney and gonadal development. WT1 gene mutations are associated with two syndromes called Denys-Drash (DDS) and Frasier (FS) that clinically overlap and differ in the type of mutation and in the age at nephropathy onset. In 46,XY subjects WT1 mutations are associated with steroid-resistant nephrotic syndrome (NS), Wilms tumor, disorder of sex development (DSD) with dysgenetic gonads and gonadoblastoma risk....

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: Patients who had undergone hematopoietic stem cell transplantation (HSCT) during childhood have been reported to have a higher risk of early metabolic syndrome (MS) and diabetes mellitus (DM) with a consequent increased risk of cardiovascular disease. Previous studies reported a cumulative incidence of abnormal glucose tolerance of 11.6% at 5 years from HSCT and of 69.3% at 10 years and a prevalence of MS of 32% at 4 years from HSCT.Objective...