hrp0092p1-247 | Multisystem Endocrine Disorders | ESPE2019

One AIRE Gene Mutation and Two Different Clinical Manifestations in a Couple of Brothers

Timpanaro Tiziana , Bizzarri Carla , Sauna Alessandra , Caruso-Nicoletti Manuela

Autoimmune polyglandular syndrome type 1 (APS-1) is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Clinical manifestations are widely variable. It is an autoimmune disease which is characterized by the triad hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis. However, several other autoimmune disorders, not necessarily endocrinological, differing in number and severity, may be present. APS1 is mostly caused by mut...

hrp0092p3-5 | Adrenals and HPA Axis | ESPE2019

Can Early Prenatal Prednisone Treatment Reduce Virilization of CAH Female Newborn?

Sauna Alessandra , Timpanaro Tiziana , Panebianco Valeria , Caruso-Nicoletti Manuela

A female second born of unrelated parents, at fourth pregnancy, born by vaginal delivery at 39 weeks of gestational age, weight 3145 g (-0.45 SDS), length 50 cm (0.12 SDS), head circumference 33 cm (-0.82 SDS), presented with DSD. The mother affected by hypothyroidism and autoimmune hepatitis, during the whole pregnancy was treated with levothyroxine and prednisone at the dose of 5 mg/day. At birth mild ambiguous genitalia (Prader stages I-II) were noticed and the baby was adm...

hrp0092p2-75 | Diabetes and Insulin | ESPE2019

Insulin Treatment of Cystic Fibrosis Related Diabetes (CFRD) on BMI and Respiratory Function

Giugno Andrea , Lo Presti Donatella , Leonardi Salvatore , Parisi Giuseppe , Timpanaro Tiziana , Papale Mariella , Rotolo Novella , Sauna Alessandra , Caruso-Nicoletti Manuela

Cystic fibrosis related diabetes (CFRD) is one of the main complications of cystic fibrosis (CF), following inflammatory-degenerative damage of the pancreas. Aim of our study was to evaluate the effects of replacement insulin therapy in patients with cystic fibrosis complicated by overt diabetes or pre-diabetes on BMI and respiratory function. We selected a sample of 17 insulin treated patients (Group T) and a sample of 17 controls with CF but normal glucose metabolism (Group ...