Molecular Mechanisms of Pediatric Endocrine Disorders (posters)

SUN 053

Usefulness of Targeted Massively Parallel Sequencing in the Detection of Shox Deletions
Mariana F A Funari, Antonio M Lerario, Bruna L Freire, Gabriela A Vasques, Mirian Y Nishi and Alexander A L Jorge

SUN 054

Rare Genetic Variants in Children with Severe Early Onset Obesity
Vidhu V Thaker, Benjamin Weaver, Molly McDonald, Sinead Christensen, Michael Guo, Jonathan Picker, Amy Debra Fleischman and Joel N Hirschhorn

SUN 055

Characterization of Familial Central Precocious Puberty
Marina Cunha Silva, Luciana Ribeiro Montenegro, Delanie Delanie Bulcao Macedo, Danielle de Souza Bessa, Monica M Franca, Carolina de Oliveira Ramos, Priscila Sales Barroso, Berenice B Mendonca and Vinicius N. Brito

SUN 057

Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers
Harry J Hirsch, Gheona Altarescu, Varda Gross-Tsur, Ari Zimran, Amir Weintraub and Talia Eldar-Geva

SUN 058

SUN 059

Global DNA Hypermethylation in Girls with Idiopathic Central Precocious Puberty
Danielle de Souza Bessa, Mariana Maschietto, Vinicius N. Brito, Delanie Bulcao Macedo, Marina Cunha Silva, Heloísa M. C. Palhares, Elisabete A. M. R. Resende, Maria de Fátima Borges, Antonio M Lerario, Berenice B Mendonca, Ana Cristina V. Krepischi and Ana Claudia Latronico

SUN 060

Clinical and Genetic Analysis of Patients with Constitutional Delay of Growth and Puberty
Priscila Sales Barroso, Alexander A L Jorge, Luciana Ribeiro Montenegro, Antonio M Lerario, Lorena Guimaraes Lima Amato, Leticia Ferreira Gontijo Silveira, Berenice B Mendonca and Ana Claudia Latronico

SUN 061

Metabolic Regulation of Puberty Via a Central AMPK-Kisspeptin Pathway
Juan Roa, Francisco Ruiz-Pino, Alexia Barroso, María J. Vázquez, Noelia Martínez-Sanchez, Delphine Franssen, David Garcia-Galiano, Tuncay Ilhan, Silvia Leon, Maria Manfredi-Lozano, Violeta Heras, Juan Manuel Castellano, Francisco Gaytán, Carlos Dieguez, Leonor Pinilla, Miguel Lopez and Manuel Tena-Sempere

SUN 062

Familial Isolated Growth Hormone Deficiency (IGHD) Caused By the R183H Mutation in the Growth Hormone Gene (GH1): Detailed Clinical Analysis of a Four-Generation Family
Catalina Cabrera Salcedo, Melissa Andrew, Leah Tyzinski, Vivian Hwa, Amy Shah, Iris Gutmark-Little, Philippe Backeljauw and Andrew Dauber

SUN 063

Perturbed Central Ceramide Signaling Is Involved in Precocious Puberty Caused By Early-Onset Obesity
Juan Manuel Castellano, Violeta Heras, Inmaculada Velasco, María J. Vázquez, Daniela Fernandois, Silvia Leon, Maria Manfredi-Lozano, Alexia Barroso, Francisco Gaytán, Leonor Pinilla and Manuel Tena-Sempere

SUN 064

A Novel Heterozygous Variant of NPR2 Gene in Korean Patients with Idiopathic Short Stature
Seung Yang, Min Jae Kang, Yeon Joung Oh, Hyo-Kyoung Nam, Young Suk Shim, Joon Woo Baek, Young-Jun Rhie, Kee-Hyoung Lee and Il Tae Hwang

SUN 065

Premature Adrenarche Is Marked By Elevated Levels of Serum 11-Ketotestosterone and Δ5-Steroid Sulfates
Juilee Rege, Josephine Z Kasa-Vubu, Timothy Allen Muth, Richard J. Auchus, Joshua Michael Smith, Perrin C White and William E. Rainey

SUN 066

Analysis of Mitochondrial DNA in Patients with Constitutional Variants of Growth and Pubertal Development
Daiane Beneduzzi, Débora Cristiane Ferreira Lago, Renato Alvarenga, Diogo Veiga, Cristiane Kochi, Nadja Cristina de Souza-Pinto and Carlos Alberto Longui

SUN 067

Etiology and Endocrine Characteristics of Children Presented with Central and Nephrogenic Diabetes Insipidus
Yoon-Myung Kim, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi and Han-Wook Yoo

SUN 068

Biallelic Gnrhr Mutations in Twin Boys Discordant for Weight
Taneli Raivio, Johanna Hietamäki, Matti Hero, Johanna Känsäkoski, Kirsi Vaaralahti and Päivi Miettinen

SUN 069

Pituitary Volume in Normal Children
Winston Weiler, Owen Bersot, James Haigney, Nicholas Krasnow, Brad Pogostin, Marion Kessler, Michael Tenner and Richard A Noto