Searchable abstracts of presentations at key conferences in endocrinology

ea0023oc3.4 | Oral Communications 3 | BSPED2009

Severe midline abnormalities result in a distinct spectrum of endocrinopathies: implications for genetic diagnosis and follow-up

Alatzoglou Kyriaki S , Mehta Ameeta , Webb Emma A , Hindmarsh Peter C , Dattani Mehul T

Background: Holoprosencephaly (HPE) is a brain malformation that results from a defect in the patterning of the forebrain. Children with the most severe forms of HPE have endocrine deficits, in addition to neurologic and visual impairment. Forebrain abnormalities and pituitary hormone deficiencies are also part of the clinical spectrum of septo-optic dysplasia (SOD).Aim: Describe the spectrum of endocrinopathies in children with HPE and compare their cha...