A Rare Association of Monosomy 18P Syndrome and Polyglandular Autoimmune Syndrome Type IIIA

• Published in: Balkan journal of medical genetics Vol. 16; no. 1; pp. 81 - 83
• Main Authors: Dolek-Cetinkaya, D, Demirpence, M.M., Gorgel, A, Salgur, F, Bahceci, M
• Format: Journal Article
• Language: English
• Published: Macedonia De Gruyter Poland 01.06.2013; Macedonian Science of Sciences and Arts; Sciendo
• Subjects: Case Report; growth hormone deficiency; hypogo-nadotropic hypogonadism; monosomy 18p; type 1 diabetes and hypothyroidism; Hypogonadotropic hypogonadism; Monosomy 18p; Type 1 diabetes and hypothyroidism; Growth hormone deficiency
• ISSN: 1311-0160; 2199-5761
• DOI: 10.2478/bjmg-2013-0023

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.