Article
Angelman syndrome and thyroid dysfunction
Fecha
2012Registro en:
Autor
Monterrubio-Ledezma, C.E.
Bobadilla-Morales, L.
Pimentel-Gutierrez, H.J.
Corona-Rivera, J.R.
Corona-Rivera, A.
Institución
Resumen
Angelman syndrome (AS) is a neurogenetic syndrome, has a prevalence of 1:10,000 to 1:40,000. Patients with AS have genetic alterations in maternal imprinting gene UB3A (15q11-q13) and molecular evaluations confirm the diagnosis. Our aim is to report a new case with AS and subclinical hypothyroidism (SCH) without goiter. Thyroid dysfunction has not been described as part of alterations in AS; the exact pathogenic mechanisms of SCH in patients with AS remains incompletely unknown.