title: Congenital nystagmus and central hypothyroidism.
abstract: We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may not yet be present in early life.
authors.affiliation: Department of Pediatric Endocrinology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
authors.forename: Nele
authors.initials: N
authors.lastname: Reynaert
authors.affiliation: Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Elke
authors.initials: E
authors.lastname: Braat
authors.affiliation: Department of Pediatric Endocrinology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
authors.forename: Francis
authors.initials: F
authors.lastname: de Zegher
keywords: Congenital hypothyroidism; FRMD7; IGFS1; Nystagmus