Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome

McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication. We review the case of a child with MAS whose initial presentation was characterized by severe neonatal cholestasis. The case demonstrates a severe phenotype of persistent cholestasis in MAS requiring liver transplantation. This phenotype has been previously considered to be a more benign feature. This case highlights the importance of consideration of MAS as an uncommon but important cause of neonatal cholestasis. Early diagnosis may allow for prompt recognition and treatment of other endocrinopathies.

Emerging treatments for severe obesity in children and adolescents.

Severe obesity in childhood is increasing in prevalence and is associated with considerable morbidity. Studies into pediatric obesity have focused largely on interventions that do not necessarily target the unique biologic or psychological underpinnings for the weight gain in the individual child or adolescent. Outcomes show modest improvement and are of questionable benefit for patients with severe obesity. Although weight is a commonly used outcome, other psychological and metabolic parameters including normalization of physical activity and eating behaviors should be primary outcome goals. The durability of weight loss is often limited by physiologic systems that are evolutionarily designed to promote weight gain. Drug therapies for children are limited, as is their effect on weight and metabolism. Existing drugs that are incidentally found to cause weight loss through off-target effects are being actively investigated for obesity indications. Bariatric surgery results in the most significant weight reduction, but it is associated with potential morbidity and long term data are not available for adolescents undergoing this procedure. As understanding of the biologic and psychosocial contributors to eating behaviors and body weight regulation increases, multifaceted and targeted behavioral, pharmacological, and surgical treatment algorithms should be developed and applied to target the underlying pathways involved for the individual child or adolescent with severe obesity.

Utility of the Oral Glucose Tolerance Test to Assess Glucose Abnormalities in Adolescents with Polycystic Ovary Syndrome.

STUDY OBJECTIVE: The aim of this study was to examine the prevalence of and risk factors for abnormal glucose metabolism in a large population of adolescents with polycystic ovary syndrome (PCOS). DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: A retrospective chart review was performed of 360 patients who presented to the pediatric gynecology outpatient clinic for evaluation of PCOS between January 2004 and May 2012. RESULTS: A total of 163 patients fulfilled criteria for a diagnosis of PCOS and had adequate clinical and laboratory data. Twenty-six adolescents (16.0%) had impaired glucose tolerance and 2 patients (1.2%) met criteria for a provisional diagnosis of type 2 diabetes. All 28 subjects with abnormal glucose metabolism were identified using the 2-hour plasma glucose of the oral glucose tolerance test. Conversely, the fasting glucose values only successfully detected 2 patients with hyperglycemia, both of whom also had abnormal 2-hour glucose levels. Adolescents with abnormal glucose metabolism were more likely to have reported a positive family history (P = .02) and had higher body mass index z scores (2.8 ± 1.1 vs 1.8 ± 1.2; P < .01). When patients were classified into normal weight (n = 29) and obese/overweight groups (n = 117), all of the patients with abnormal glucose metabolism were overweight or obese. CONCLUSION: In the largest series to date, we describe a prevalence of abnormal glucose metabolism in adolescent patients with PCOS of 17.2%. Abnormal glucose metabolism is associated with many of the known risk factors for metabolic syndrome. Our results support that the oral glucose tolerance test is a superior diagnostic test to assess abnormal glucose levels in overweight and obese adolescents but that this test might have limited utility in normal weight adolescents with PCOS.