ESPE Abstracts

Introduction: 18q deletion is one of the rare causes of short stature, characterized by intellectual disability, short stature, hypotonia, hearing loss, and foot deformities. Patients with this condition are also found to have an increased susceptibility to autoimmune diseases, which can lead to associated endocrinopathies. Here, we present a case diagnosed with 18q deletion and followed in our clinic due to short stature.

Case: A 9-year-old female patient was referred to our clinic by cardiology due to short stature. In her medical history, it was learned that she was born at 37 weeks, with birth weight of 2470 grams. She has been under cardiology follow-up due to mitral insufficiency and mitral valve prolapse. She has always been short compared to her peers. There was distant consanguinity between the parents. The mother's height was measured as 152cm(-1,89SD), and the father's height was 168.5cm(-1,25SD), mid-parental height 153.7cm(-1,59SD). On physical examination, her weight was 20.5 kg(-2.11SD), height was 120.6cm(-2.3SD), and she was at Tanner stage 1 for puberty. Laboratory investigations revealed IGF-1: 71.7ng/ml(-2/-3SD), IGFBP3: 3340 ng/ml(0/-1SD), normal thyroid function tests, negative celiac antibodies, negative autoimmune endocrinopathy panel, normal audiometric test and bone age was determined as 7 years 6 months. The growth hormone stimulation test showed normal growth hormone response. The patient's diet was adjusted, and growth velocity was monitored. Gastroesophageal reflux was detected in the patient referred to the gastroenterology department due to malnutrition. Grade 2 dilatation was observed in the renal pelvis on abdominal ultrasound. Chromosome analysis resulted as 46,XX. At the last follow-up, chronological age was 10 years 10 months, bone age was 11 years 11 months, height was 136.7cm (-2.5SDS), weight was 26.6 kg(-2.5SDS), and she was at Tanner stage 2 for breast development and pubic hair. Acording to the genetic panel result, the patient's short stature was found to be due to a 1.3Mb heterozygous deletion in the 18q21.33 region.

Conclusion: Clinical findings in deletion syndromes vary depending on the location, size, and genes involved in the deletion region. Growth hormone deficiency may accompany 18q deletion syndrome, and it has been reported that growth hormone therapy in these cases results in both increased height and IQ scores. Deletion syndromes should be considered in the presence of multiple systemic clinical findings accompanying short stature.