hrp0089p2-p407 | Thyroid P2 | ESPE2018

Bannayan-Riley-Ruvalcaba Syndrome with PTEN Mutation in a Patient Affected by Congenital Hypothyroidism due to TPO Gene Alteration

Vincenzi Gaia , Vigone Maria Cristina , Peroni Elena , Saracco Luca , Paesano Pier Luigi , Maggiore Riccardo , Mari Gilberto , Patricelli Maria Grazia , Weber Giovanna

We present the case of a 7-year-old female affected by permanent congenital hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome. The patient was born at 31+4 gestational weeks because of premature rupture of membranes. At birth her auxological parameters were adequate for gestational age with a 75th percentile head circumference. She was diagnosed with congenital hypothyroidsm (TSH 1016 mcu/ml, FT4 <0.4 ng/dl) with an in situ gland caused by a homozygous mutation...

hrp0097p1-188 | Thyroid | ESPE2023

DICER1 Syndrome and pediatric thyroid carcinoma

Abbate Marco , Vincenzi Gaia , Maggiore Riccardo , Schiavo Lena Marco , Tarantola Giulia , Teresa Petralia Ilenia , Matilde Tura Adele , Grazia Patricelli Maria , Barera Graziano , Cristina Vigone Maria

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...