MON-LB036 Uncommon Findings in Beckwith-Wiedemann Syndrome

Abstract

Introduction: Beckwith-Wiedemann syndrome (BWS) is characterized by variable phenotypes that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, hemihypertrophy and predisposition to embryonal tumours.Some features are more specific, including adrenal cytomegaly. BWS increases risk for several tumors, including adrenocortical tumor (ACT). Some protocols recommend screening with adrenal ultrasonography and serum DHEAS every 4–6 months. Case report: A 1-month-old male, preterm (34 weeks 4 days), large for gestational age (weight 3670g), presented with macrosomia, macroglossia, umbilical hernia and auricular pits, with clinical diagnosis of BWS. In newborn screening 17 alpha hydroxyprogesterone (17OHP): 70,15 ng/mL (<15ng/mL) and 66,32 ng/mL in second sample. Presented basal cortisol 11.4 mcg/L (6,70 a 22,60 µg/dL), normal electrolytes, dehydroepiandrosterone sulphate (DHEAS) > 1000 mcg/dL (30,0 - 250,0 mcg/dL), testosterone 637 ng/dL (60-400 ng/dL), leading to ACT suspicion. No suppression of cortisol (2,8 mcg/dL) after dexamethasone 10 mcg/kg. Urinary metanephrines were normal, plasmatic normetanephrine 554 pg/mL (<196 pg/mL) and plasmatic norepinephrine 2094 pg/mL (< 420 pg/mL). Abdominal CT showed increased adrenal glands, with normal contrast uptake. MRI and PET/CT DOTA-68Ga did not identify tumors. Eight months later: 17OHP 0,88 ng/mL (0,8-5ng/mL), DHEAS 37 mcg/dL (<30,0 mcg/dL), testosterone 13 ng/mL (< 30 ng/dL), normal urinary metanephrines and plasmatic catecholamines. Conclusion: In this case congenital adrenal hyperplasia was ruled out and ACT was suspected. Imaging did not identify tumors and biochemical findings (hypercortisolism and high androgens levels) had progressive improvement. Bilateral adrenal hyperplasia may be present in BWS as a result of fetal adrenal gland delay maturation. Permanent adrenal cortex cytomegaly may be responsible for hypercortisolism. Transient cortex persistence can lead to androgens elevation and produces large amounts of DHEA, that could explain DHEAS elevation similar to that in ACT.Bilateral adrenal hyperplasia is described as a feature of BWS, but, to our knowledge, there is no similar case in literature with these biochemical findings.