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

DISCUSSION

Monosomy 18 p syndrome is a rare disorder and some autoimmune diseases may accompany the disease. Insulin-dependent diabetes mellitus concomitant occurrence with monosomy 18p syndrome [1] is rarely reported. It can be said that the mechanism of the association between monosomy 18p and IDDM is quite difficult to explain. It has been widely accepted that IDDM is a multifactorial and polygenic disorder with a strong autoimmune basis. The strongest loci so far connected with IDDM are IDDM1 and IDDM2. When the possible relationship and association between these two disorders is considered, a gene(s) on chromosome 18 may also affect the autoimmune process. Dacou-Voutetakis C et al. [4] reported a 5-year-old male patient with IDDM and autoimmune thyroiditis and monosomy 18p and they also suggested the relationship between monosomy 18p and IDDM. Our patient has been suffering from IDDM for 20 years, c-peptide was 0.12 ng/mL and islet cell antibodies were 8.38 IU/mL (normal range <10 IU/ mL) noted as borderline negative. In PAS III, autoimmune thyroiditis occurs with another organ-specific autoimmune disease, but the syndrome cannot be classified as PAS I or II. Polyglandular autoimmune syndrome III can be further classified into three subcategories: one of these sub-groups is PAS IIIA, which includes autoimmune thyroiditis with immune-mediated diabetes mellitus. Polyglandular autoimmune syndrome type IIIA, which is also known as PAS type 3 variant, includes autoimmune thyroiditis with immune-mediated diabetes mellitus [3,4]. In our patient; PAS type IIIA was diagnosed because he had IDDM, primary thyroiditis, and GH deficiency and hypogonadotropic hypogonadism. Furthermore, GH deficiency may occur together with the disorder. There are rare publications on autoimmune diseases, such as vitiligo and alopecia, accompanying the monosomy 18p mutation; Hashimoto thyroiditis was also very rarely reported [2-6]. In our case, autoimmune thyroiditis, IDDM, GH deficiency and hypogonadotropic hypogonadism were observed together with monosomy 18p syndrome. This genetic mutation, autoimmune thyroiditis and IDDM association was accepted as a noteworthy case regarding the possibility that autoimmune diseases may be accompanied by genetic diseases such as monosomy 18p. We could find a few reported cases with autoimmune PAS type IIIA accompanying monosomy 18p syndrome in the literature online (http://www.ncbi.nlm. nih.gov) (3,4). Therefore, this is probably one of the few cases that indicates the association of monosomy 18p and the PAS type IIIA variant. In conclusion, monosomy 18p syndrome may be associated with autoimmune diseases and if this is suspected, patients should also be examined for an endocrine deficiency.

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