Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion
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 n...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2016/2853178 |
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| author | Edward J. Bellfield Jacqueline Chan Sarah Durrin Valerie Lindgren Zohra Shad Claudia Boucher-Berry |
| author_facet | Edward J. Bellfield Jacqueline Chan Sarah Durrin Valerie Lindgren Zohra Shad Claudia Boucher-Berry |
| author_sort | Edward J. Bellfield |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3236166eacd04af385d4a77956d133bd |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-3236166eacd04af385d4a77956d133bd2025-08-20T03:55:03ZengWileyCase Reports in Endocrinology2090-65012090-651X2016-01-01201610.1155/2016/28531782853178Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p DeletionEdward J. Bellfield0Jacqueline Chan1Sarah Durrin2Valerie Lindgren3Zohra Shad4Claudia Boucher-Berry5Division of Pediatric Endocrinology, University of Illinois College of Medicine, Chicago, IL 60612, USADivision of Pediatric Endocrinology, University of Illinois College of Medicine, Chicago, IL 60612, USAUniversity of Illinois College of Medicine, Chicago, IL 60612, USADepartment of Pathology, University of Illinois College of Medicine, Chicago, IL 60612, USADivision of Genetics, University of Illinois College of Medicine, Chicago, IL 60612, USADivision of Pediatric Endocrinology, University of Illinois College of Medicine, Chicago, IL 60612, USAWe 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.http://dx.doi.org/10.1155/2016/2853178 |
| spellingShingle | Edward J. Bellfield Jacqueline Chan Sarah Durrin Valerie Lindgren Zohra Shad Claudia Boucher-Berry Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion Case Reports in Endocrinology |
| title | Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion |
| title_full | Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion |
| title_fullStr | Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion |
| title_full_unstemmed | Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion |
| title_short | Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion |
| title_sort | anterior pituitary aplasia in an infant with ring chromosome 18p deletion |
| url | http://dx.doi.org/10.1155/2016/2853178 |
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