hrp0092p2-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Unusual Presentation of McCune-Albright Syndrome in a 10-Year-Old Girl

Ciccone Sara , Bizzarri Carla , Cristina Matteoli Maria , Cappa Marco

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...

hrp0092p3-17 | Adrenals and HPA Axis | ESPE2019

Newborn Screening for Congenital Adrenal Hyperplasia: Should we Worry more about False Positives or False Negatives?

Ciccone Sara , Pedicelli Stefania , Ventresca Silvia , Desideri Elena , Stella Marcello

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...

hrp0089p3-p388 | Thyroid P3 | ESPE2018

A Rare Case of Pediatric Hyperthyroidism

Ciccone Sara , Ubertini Graziamaria , Pasini Manuela , Stella Marcello

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...

hrp0084p1-72 | Fat | ESPE2015

Use of Topiramate in Severe Hyperphagia Associated to Neuropsychiatric Features in a Boy with Congenital Proopiomelanocortin Deficiency

Marini Romana , Ciccone Sara , Alfieri Paolo , Pedicelli Stefania , Cappa Marco

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=...

hrp0095p1-366 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Hemorrhagic pituitary apoplexy due to pituitary adenoma: description of two cases in two adolescent males

Ciccone Sara , Vestrucci Benedetta , Lia Cataldi Maria , Balestrieri Antonio , Ruggiero Maria , Grandone Anna

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...

hrp0095p2-162 | Growth and Syndromes | ESPE2022

Long term effect of growth hormone treatment in a patient with growth hormone deficiency and mitochondrial disease due to TMEM70 gene mutation

Ciccone Sara , Lasorella Stefania , Giardinelli Silvia , Tagliaferri Alessandro , Ferri Irene , Fede Ludovica , Canale Noemi

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,...

hrp0089p2-p349 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A 46,XX Female with WT1 Mutation, Congenital Nephrotic Syndrome and a Complex Disorder of Sex Development

Ciccone Sara , Bizzarri Carla , Picca Stefano , Orazi Cinzia , Lucchetti Chiara , Cappa Marco

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....

hrp0082p2-d3-501 | Perinatal and Neonatal Endocrinology | ESPE2014

Kabuki 47,XXY Syndrome: a Case Report

Pedicelli Stefania , Marini Romana , Ciccone Sara , Cambiaso Paola , Digilio Maria Cristina , Bizzarri Carla , Cappa Marco

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...

hrp0082p2-d2-521 | Pituitary (1) | ESPE2014

Association of Pituicytoma and Cushing’s Disease: a Rare Pediatric Case

Ciccone Sara , Cambiaso Paola , Longo Daniela , Marini Romana , Pedicelli Stefania , Deodati Annalisa , Galassi Stefania , Cappa Marco

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...

hrp0084p2-380 | Fat | ESPE2015

Insulin Resistance and Abnormal Glucose Tolerance After Paediatric Hematopoietic Stem Cell Transplantation in Blood Cancer Survivors

Ciccone Sara , Bizzarri Carla , Pinto Rita Maria , Brescia Letizia Pomponia , Locatelli Franco , Cappa Marco

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...