Background: Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia. Patients with PWS develop hypothalamic dysfunction which may lead growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and poor bone mineral density. Traditionally, obesity is a hallmark feature of PWS which may be complicated by metabolic syndrome and type 2 diabetes mellitus (T2DM). T2DM is very common in 25% of PWS adults, although rarely develops during the childhood years.
Case presentation: a 16-year-old girl with Prader-Willi syndrome, morbid obesity, hyperlipidemia, hypertension, fatty liver, type 2 diabetes mellitus, hypogonadism, severe mental retardation, deficit speech. Medical history: approximately 3.5 years before diabetes mellitus type 2 was diagnosed (polyuria and polydipsia); metformin was administered. Glycated hemoglobin (HbA1c) levels were 7.4% or lower. The patient was admitted in the diabetes clinic with hyperglycemia 382 mg per deciliter (21.2 mmol per liter), and high level of HbA1c (10.6%), insulin glargine was added. On examination, the weight 102.8 kg, the height 150 cm ( 2SD) and the body-mass index (BMI) 45.7. The skin was dry, scratching, hyperemia and maceration in the perineum. The lungs were clear; the blood pressure was 150/100 mm Hg, the pulse 115 beats per minute. Ultrasonography of the abdomen revealed a moderately fatty liver and hepatomegaly. Pubertal formula by Tanner: P1A1Ma1, amenorrhea. Gynecologist found complete vaginal atresia. Her blood level of thyrotropin was 2.1 μU per milliliter, free T4 15.7 pmol per liter; LH 0.6 mU per liter; FSH 0.5 mU per liter; C peptide 2.3 nmol per liter. Biochemical tests revealed high total cholesterol 8.0 mmol per liter, cholesterol LPH 1.09 mmol per liter. Diabetes treatment: diet, metformin 2000 mg, glargine 30 IU per day. After 3 months HbA1c was 7.6%; and glycaemia 72.0 160.0 mg per deciliter.
Conclusions: This study shown the need for screening of type 2 diabetes mellitus in children with Prader-Willi syndrome.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology