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

CASE REPORT

A 34-year-old male patient, diagnosed with IDDM 20 years ago, was hospitalized. The patient had short stature and his face was dysmorphic; body height was 130 cm. The clearly mentally retarded patient was able to sit up when he was 2 and walked when he was 7 years old. The parents of the patient were not consanguineous. His parents looked healthy and their height was normal. Body height of the patient was less than –3 SD (standard deviation) from the mean and his bone age was 12. He had large earlaps and segregated earlobes, old-looking face, straight nasal bone, atrophic mouth and nose structure, drooping cheeks, groove in upper lip, intense teeth loss, soft, weak and sparse white hair. Stage of male genital and pubic hair development, according to Marshall and Tanner, was G1 and P1, respectively. All characteristic findings of the patient are presented in Figures 1 and 2. With these findings, a genetic disorder was suspected and chromosomal analysis was performed. In addition to hypogonadotropic hypo-gonadism, GH deficiency, osteoporosis, primary hypothyroidism, thyroiditis and IDDM were also detected. Hb A1C level was 11.0% (normal range 4.0-6.0%), islet cell antibodies 8, 38 IU/ mL (normal range <10 IU/mL) and c-peptide 0, 12 ng/ mL (normal range 1, 01-4, 08 ng/mL). Soma-tomedin C (IGF1) level was lower than 25 ng/mL (normal range 90-226 ng/mL). Luteinizing hormone-releasing hormone (LH-RH) test revealed low basal hormone levels and partial LH and follicle-stimulating hormone (FSH) response. The L-dopa and insulin tolerance test demonstrated a GH deficiency. Thyroid function tests were compatible with primary hypothyroidism and thyroid antibody levels were high. Thyroid-stimulating hormone (TSH) was 9.18 μIU/mL (0, 4-4 μIU/ mL), free tri-iodothyronine (f-T3) was 2, 12 pg/mL (normal range 1, 57-4, 71 pg/mL) and free-thyroxine (f-T4) was 0, 71 ng/dL (normal range 0, 8-1, 9 ng/dL), anti thyroglobulin was >500 U/mL (normal range 0-60 U/mL) and anti thyroid peroxidase was >1300 U/mL (normal range 0-60 U/mL). Bone X-ray did not display dysplasia. There was no significant malformation in prosencephalon structure on magnetic resonance imaging. However, the nose and mouth anomalies in the midportion of the face suggested mild forms of monosomy 18p. Chromosome analysis was performed on standard phytohemagglutinin (PHA)-stimulated blood cultures and the result revealed the following 46,XY,del(18)(p11.2). With these findings, PAS type IIIA and monosomy 18p syndrome was diagnosed in the patient.

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