Abstract

Introduction

Williams-Beuren Syndrome (WBS) is a rare chromosomal disorder caused by a 7q11.23 deletion, featuring dysmorphic findings, cardiovascular anomalies, neurodevelopmental problems, and endocrine disorders. This study evaluated endocrine manifestations, diagnostic delays, and the importance of multidisciplinary follow-up.

Materials and Methods

Fourteen WBS patients followed at a tertiary pediatric endocrinology clinic between 2018-2023 were retrospectively analyzed. As the cohort comprised patients referred to endocrinology, the reported ratesreflect the frequencies observed in our series rather than population prevalence.

Results

Six patients (42.9%) were female, eight (57.1%) male. Mean birth weight was 2496.8 ± 581.4 g. Median diagnostic delay from first presentation to genetic diagnosis was 3.6 months (range: 0-167.9 months); 5 patients (35.7%) experienced delays exceeding 12 months. Cardiovascular anomalies were found in 11 (78.6%), hypothyroidism in 5 (35.7%), hypercalcemia in 8 (57.1%), short stature in 3 of 8 patients with available height SDS, cryptorchidism in 4/8 males (50%), and neurodevelopmental problems in 13 (92.9%). Only one patient (7.1%) first presented to endocrinology.

Conclusion

Diagnostic delay remains a significant problem in WBS. Endocrine problems, particularly hypercalcemia, hypothyroidism, and cryptorchidism, must be recognized and treated early. Increasing disease awareness for earlier diagnosis and a multidisciplinary approach are important.