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ea0029oc2.2 | Thyroid Clinical I | ICEECE2012

Identification and functional analysis of DUOX2 variants: biallelic mutations are associated with permanent congenital hypothyroidism

Muzza M. , Zamproni I. , Persani L. , Cortinovis F. , Vigone M. , Rabbiosi S. , Beccaria L. , Visser T. , Moreno J. , Weber G. , Fugazzola L.

Since the first identification of DUOX2 as an actor in the pathogenesis of congenital hypothyroidism (CH), several mutations have been associated with transient or permanent CH, with a high intra- and interfamilial phenotypic variability. In the present study, we report clinical and molecular studies of 7 unrelated children and 2 couple of siblings affected with CH and partial iodide organification defect (PIOD).We identified nine novel and five previous...

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ea0029p1416 | Pituitary Clinical | ICEECE2012

Prevalence of central adrenal insufficiency during lifespan in Prader–Willi syndrome

Grugni G , Beccaria L , Crino A , Andrulli S , Cappa M , De Medici C , Di Candia S , Gargantini L , Iughetti L , Mariani B , Mussa A , Ragusa L , Sartorio A , Salvatoni A , Spera S , Chiumello G , Corrias A

Introduction: The etiology of the increased mortality seen in PraderWilli syndrome (PWS) is not completely known. In this context, it has been suggested that central adrenal insufficiency (CAI) due to hypothalamic dysfunction may be responsible for unexplained deaths. However, data on hypothalamic-pituitaryadrenal (HPA) axis in PWS are still conflicting. Because adrenal insufficiency is a life-threatening disease, its diagnosis should be precise, urgent and reliabl...

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Endocrine Abstracts

Identification and functional analysis of DUOX2 variants: biallelic mutations are associated with permanent congenital hypothyroidism

Prevalence of central adrenal insufficiency during lifespan in Prader–Willi syndrome

BiosciAbstracts