title: Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion.
abstract: We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype. Furthermore, it demonstrates the necessity of close follow-up in the first year of life for children with 18p deletion syndrome and emphasizes the need to verify radiology impressions if there is any doubt as to the radiologic findings.
authors.affiliation: Division of Pediatric Endocrinology, University of Illinois College of Medicine, Chicago, IL 60612, USA.
authors.forename: Edward J
authors.identifier: 0000-0002-6146-3469
authors.initials: EJ
authors.lastname: Bellfield
authors.affiliation: Division of Pediatric Endocrinology, University of Illinois College of Medicine, Chicago, IL 60612, USA.
authors.forename: Jacqueline
authors.identifier: 0000-0002-5427-546X
authors.initials: J
authors.lastname: Chan
authors.affiliation: University of Illinois College of Medicine, Chicago, IL 60612, USA.
authors.forename: Sarah
authors.initials: S
authors.lastname: Durrin
authors.affiliation: Department of Pathology, University of Illinois College of Medicine, Chicago, IL 60612, USA.
authors.forename: Valerie
authors.initials: V
authors.lastname: Lindgren
authors.affiliation: Division of Genetics, University of Illinois College of Medicine, Chicago, IL 60612, USA.
authors.forename: Zohra
authors.initials: Z
authors.lastname: Shad
authors.affiliation: Division of Pediatric Endocrinology, University of Illinois College of Medicine, Chicago, IL 60612, USA.
authors.forename: Claudia
authors.initials: C
authors.lastname: Boucher-Berry