Balkan Journal of Medical Genetics

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

INTRODUCTION

Monosomy 18p refers to a chromosomal disorder resulting from the absence of all or part of the short arm of chromosome 18. Clinical features typically include mild-to-moderate mental retardation, short stature, round face with short protruding philtrum, palpebral ptosis and large ears with detached pinnae. Cytogenetic analysis is required for diagnosis. The incidence of the disorder is about 1/50,000. More than 150 patients have been reported worldwide [1,2]. Polyglandular autoimmune syndrome (PAS) type IIIA includes autoimmune thyroiditis with immunemediated diabetes mellitus. Although growth hormone (GH) deficiency, thyroiditis, juvenile diabetes and other autoimmune disorders have also been reported, there are only a few case reports in the literature about the association of monosomy 18p and PAS type IIIA [3,4]. A male patient with monosomy 18 p together with PAS type IIIA is reported here because of its rare occurrence. Polyglandular autoimmune syndrome type IIIA was diagnosed with features of insulin-dependent diabetes mellitus (IDDM), primary thyroiditis, GH deficiency and hypogonadotropic hypogonadism. The chromosome analysis of the patient revealed 46,XY,del(18)(p11.2).

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