Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion

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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 no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ecto...

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ژورنال

عنوان ژورنال: Case Reports in Endocrinology

سال: 2016

ISSN: 2090-6501,2090-651X

DOI: 10.1155/2016/2853178