S D Joustra, N Schoenmakers, L Persani, I Campi, M Bonomi, G Radetti, P Beck-Peccoz, H Zhu, T M E Davis, Y Sun, E P Corssmit, N M Appelman-Dijkstra, C A Heinen, A M Pereira, A J Varewijck, J A M J L Janssen, E Endert, R C Hennekam, M P Lombardi, M M A M Mannens, B Bak, D J Bernard, M H Breuning, K Chatterjee, M T Dattani, W Oostdijk, N R Biermasz, J M Wit, A S P van Trotsenburg
CONTEXT: Ig superfamily member 1 (IGSF1) deficiency was recently discovered as a novel X-linked cause of central hypothyroidism (CeH) and macro-orchidism. However, clinical and biochemical data regarding growth, puberty, and metabolic outcome, as well as features of female carriers, are scarce. OBJECTIVE: Our objective was to investigate clinical and biochemical characteristics associated with IGSF1 deficiency in both sexes. METHODS: All patients (n = 42, 24 males) from 10 families examined in the university clinics of Leiden, Amsterdam, Cambridge, and Milan were included in this case series...
December 2013: Journal of Clinical Endocrinology and Metabolism