Endocrine Abstracts

Introduction: Chromosome 9p trisomy is a rare chromosomal syndrome in which a portion of the 9th chromosome appears three times rather than twice in cells of the body. Most often these children present with developmental delay, craniofacial malformation and growth deficiency. We present a case of insulin dependent diabetes in a 5-year-old boy known to have a diagnosis of Chromosome 9p trisomy.

Case: Born at 38+3, by normal vaginal delivery with birth weight of 2980 g (25th cent.), birth head circumference 33 cm (25th cent.). Mum – G2Po, TIOP 9/40 for personal reasons, age 29 yrs; well during pregnancy. He is the first born of non-consanguineous parents.

Noted to have soft dysmorphic features at birth- left correctable talipes calcaneovalgus, apparent short penis, small cup like ears, marked tongue tie, no cleft palate, hypoplastic toe nails, widely placed nipples. Rest of the physical exam was normal.

Chromosomal analysis: Unbalanced male karyotype with two additional abnormal chromosomes. The larger of the additional chromosome appears to comprise of short arm and proximal long arm of chromosome 9- therefore trisomic for this region. No evidence of mosaicism. Parental studies showed that the abnormal chromosomes detected, is of de novo occurrence.

He was delayed in his motor, speech and language development. His cardiac ECHO was normal.

At 4 yrs age, he presented with h/o polyuria, polydipsia and weight loss in Diabetic Keto acidosis. He was commenced on CSII once his acidosis improved. He continues to remain on CSII with insulin requirement of around 0.5 U/kd per day.

Conclusion: There have been no reported cases of insulin dependent diabetes in this rare syndrome. Early management with CSII should be considered based on age and underlying degree of developmental impairment.