Endocrine Abstracts

Case report: Potocki-Lupski Syndrome (PTLS) with obesity

Eiman Naghmuish¹, Marisa Clemente¹, Kamal Weerasinghe¹

¹Department of Paediatrics, Wrexham Maelor Hospital, Betsi Cadwaladr University Health Board, The UK.

Introduction: Potocki-Lupski syndrome (PTLS) is a rare genetic disorder affecting 1:20.000 people worldwide, it is caused by a duplication of a specific region on chromosome 17q12. PTLS is typically considered a de novo (sporadic) condition. However, in some cases the duplication can be inherited as an autosomal dominant manner, and parent to child transmission has been reported.

Case report: A 5 year old girl who has been referred to the endocrine clinic in view of: Signs of early puberty Obesity with a weight 25kg above the 99.6th centile, height 2 cm above the 99.6th centile, and BMI 33.8 >99.6th centile 3-Mood changes She was born at term and her birth weight was 3.300 kg (25th–50thcentile), and parents started to be concerned about her weight when she was 3 years old. She had numerous investigations for signs of early puberty, her bone age at 3 years and 11 months was 6 years, pelvic ultrasound scan has confirmed her uterus remains tubular, normal MRI head, short synacthen test showed a normal response, while her LH RH stimulation test has not seen significant LH rise and the results are in keeping with pre-pubertal stage. Her genetics tests recently revealed the diagnosis of 17q12 microduplication syndrome, a normal obesity gene panel.

Discussion: PTLS is a developmental disorder characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental and intellectual delay, speech and language delay. Behaviourally, issues such as attention-deficit hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), or autism spectrum disorder (ASD). Medically, it is characterized by hypotonia, congenital heart disease, oropharyngeal dysphagia leading to faltering growth, hypoglycaemia associated with growth hormone deficiency, and mild facial dysmorphism. Recent studies have suggested a potential association between 17q12 microduplication syndrome and an increased risk of obesity, however, the underlying mechanisms are not fully understood. Every individual with PTLS is unique, and the manifestation and severity of symptoms can vary.