hrp0092p1-5 | Adrenals and HPA Axis | ESPE2019

18 years of neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: recall rate reduction thanks to liquid chromatograpy-tandem mass spectrometry as second tier test

cavarzere paolo , Palma Laura , Lauriola Silvana , Gaudino Rossella , Vincenzi Monica , Teofoli Francesca , Antoniazzi Franco , Camilot Marta

Background: In North-Eastern Italy, a newborn screening for congenital adrenal hyperlpasia (CAH) has been taking place since 2001 to diagnose the classical form of 21-hydroxylase deficiency (21-OHD). Thanks to the screening program based on 17-OHP levels in dried blood spots, early diagnosis of CAH is possible, allowing appropriate precocious treatment and reducing mortality rates. Unfortunately, a high false positive rate, especially in preterm, low-birth-wei...

hrp0094fc3.3 | Growth Disorders | ESPE2021

Genetic characterization of a cohort of children with short stature

Cavarzere Paolo , Turolla Lorenzo , Gaudino Rossella , Baffico Ave Maria , Maffei Massimo , Palma Laura , Pietrobelli Angelo , Coviello Domenico , Antoniazzi Franco ,

Background: Short stature is defined as a height more than two standard deviations below the mean for age and sex. Pathologic causes of short stature include growth hormone deficiency, hypothyroidism, celiac disease, inflammatory bowel disease or other chronic diseases, hormonal abnormalities, and genetic disorders, such as Turner syndrome. Moreover, among other variants of short stature, scholarship also described familial short stature, constitutional delay ...

hrp0094p1-197 | Thyroid B | ESPE2021

Management of newborns born to mothers with autoimmune hypothyroidism

Cavarzere Paolo , Palma Laura , Camilot Marta , Vincenzi Monica , Teofoli Francesca , Principe Lara Nicolussi , Gaudino Rossella , Murri Virginia , Pepaj Orsiol , Lubrano Luigi , Rossi Giuliana , Sallemi Alessia , Fattori Ermanna , Lauriola Silvana , Antoniazzi Franco ,

Background: Maternal autoimmune hypothyroidism can have negative consequences on the fetus: on the one hand, maternal hypothyrosinemia might affect the fetal brain development in the early stages of pregnancy; on the other, thyroid inhibiting antibodies can pass through the placenta. It is currently unclear if these antibodies may affect the newborn’s thyroid function. Consequently, there are no certain indications regarding the management of newborns bor...