A RARE ASSOCIATION OF MONOSOMY 18p SYNDROME AND
POLYGLANDULAR AUTOIMMUNE SYNDROME TYPE IIIA
Dolek-Cetinkaya D*, Demirpence MM, Gorgel A, Salgur F, Bahceci M
*Corresponding Author: Devrim Dolek Cetinkaya, M.D., Division of Endocrinology, Ataturk Training and Research
Hospital, 35020, Izmir, Turkey; Tel.: +90-505-525-1603; Fax: +90-232-243-4848; E-mail: devrimdolek@gmail.com
page: 81
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Abstract
We report a monosomy 18p syndrome in a male
patient with polyglandular autoimmune syndrome
(PAS) type IIIA. A 34-year-old mentally retarded diabetic
male patient with short stature, wide earlaps,
old-looking face, straight nasal bone, atrophic mouth,
drooping cheeks, full teeth loss, and soft, weak and
sparse white hair was admitted to the outpatient endocrinology
clinic. Chromosome analysis of the patient
revealed 46,XY,del(18)(p11.2). He was also diagnosed
with autoimmune thyroiditis, primary hypothyroidism
and diabetes mellitus type 1. We concluded
that monosomy 18p syndrome may be associated with
autoimmune diseases and if this is suspected, patients
should be examined for an endocrine deficiency.
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