Congenital Hypothyroidism and Tuberous Sclerosis: an Association or a Coincidence?

Background Tuberous sclerosis (TS) is a polymorphic, dominantly inherited syndrome caused by an inactivating mutation in tumor suppressor genes, TSC1 or TSC2; they regulate a key player in control of cellular growth and protein synthesis: mammalian target of rapamycin (mTOR), . The disease involves benign tumors in several distinct organs (such as the skin, kidneys, heart and central nervous system), that can interfere with organ function. Rarely TS is associated with endocrine abnormalities, but the association with congenital hypothyroidism has been published only in another case report. Objective and hypotheses EG was a female newborn, positive at neonatal screening for congenital hypothyroidism (CH) (confirmed with venous sample). USgraphy and scintigraphy showed hypo-dysplasia of her thyroid (treated with L-tiroxine). As a part of diagnostic approach, we made echocardiography, founding several rabdomiomas. These benign tumors are frequently associated with TS, so we searched for mutations of TSC1 and TSC2 genes. No skin lesions were found. EG had also abdominal organs echography (normal) and brain magnetic resonance imaging (MRI).