TY - JOUR
T1 - Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion
AU - Bellfield, Edward J.
AU - Chan, Jacqueline
AU - Durrin, Sarah
AU - Lindgren, Valerie
AU - Shad, Zohra
AU - Boucher-Berry, Claudia
N1 - Publisher Copyright:
© 2016 Edward J. Bellfield et al.
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85043618833&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85043618833&partnerID=8YFLogxK
U2 - 10.1155/2016/2853178
DO - 10.1155/2016/2853178
M3 - Article
AN - SCOPUS:85043618833
SN - 2090-6501
VL - 2016
JO - Case Reports in Endocrinology
JF - Case Reports in Endocrinology
M1 - 2853178
ER -