Pediatric Endocrine Case Reports: Diabetes, Thryoid, and Beyond (posters)

MON 002

Parathyroid Cyst: An Unusual Cause of Neck Mass in Children
Alfonso Hoyos-Martínez, Ricardo Restrepo and Adriana Carrillo-Iregui

MON 003

An Unusual Case Highlighting the Heterogeneity of Type 1 Diabetes
Bimota Nambam, Emily Menefee, Neslihan Gungor and Robert McVie

MON 005

Turner Syndrome with 45, X Mosaicism and Y/Autosome Translocation
Elena Dingle, Shilpa Mehta, John Pappas, Julia Barillas and Preneet Cheema Brar

MON 006

Hypoglycemia after Total Pancreatectomy-Islet Autotransplantation (TP-IAT) in a Pediatric Patient with Chronic Pancreatitis
Janet Yi Man Lee, Andrew M Posselt, Roger K Long, Emily R Perito, Marilyn Elizabeth McEnhill, Michelle R Klosterman, Gregory L Szot and Christine T Ferrara

MON 007

MON 010

Implications of SRY Prevalence and Physical Distribution within the Gonad in a Woman with Turner Syndrome; Phenotypic Presentation, Tubal Formation, and Malignancy Risk
Tamar G. Baer, Christopher E. Freeman, Claudia Cujar, Mahesh Mansukhani, Bahadur Singh, Xiaowei Chen, Rosanna Abellar, Sharon E Oberfield and Brynn Levy

MON 011

Fabry Disease Caused By exon2 Deletion of GLA in 14-Year-Old Boy Presented with Angiokeratomas
Sang Hoo Park, Sung Yoon Cho, Dong-Kyu Jin and Heon-Seok Han

MON 013

MON 014

Xq26.3 Duplication Suspected As X-Lag in a Boy with Motor Delay and Low Muscle Tone and No Gigantism: The Impact of High-Resolution Molecular Cytogenetics
Giampaolo Trivellin, Erin Sharwood, Hadia Hijazi, Claudia M. B. Carvalho, Bo Yuan, Kate Tatton Brown, David Coman, James R Lupski, Andrew M Cotterill, Maya Beth Lodish and Constantine A Stratakis

MON 015

Novel Mosaic Sry Gene Deletion Identified in Three Infants with Variable Genitourinary Malformations: A Case Report 
Hiba Fadoul, Pratibha Rana, Sarah J.L. Tsai, Yun Yan, Dmitry Lyalin, Lei Zhang, Linda Cooley, Jennifer Roberts, Holly Welsh, Elena Repnikova and Jill D. Jacobson

MON 019

Does Islet Cell Autoimmunity Play a Role in New Onset Diabetes after Heart Transplant?
Johanna Maria Viau Colindres, Jason Frederick Goldberg, Grace Kwang Kim, Katherine Hwu, Rona Yoffe Sonabend, Sheila K Gunn and Maria Jose Redondo

MON 020

Diazoxide-Responsive Hyperinsulinism in an Infant with Sotos Syndrome
Mansa Krishnamurthy, Christopher E. Blunden, Sarah Dawn Corathers and Nicole Sheanon

MON 021

The Recurring Heterozygous p.Arg92Trp NR5A1 mutation Identified in a Brazilian 46,XX Testicular DSD Patient
Mirian Y Nishi, Berenice B Mendonca, Aline Zamboni Machado, Bruno Ferraz-de-Souza, Nathalia Lisboa Gomes, Thatiana Evilen Silva, Rafael Loch Batista, José Antonio Diniz Freitas Jr., Ana Carolina de Freitas Afonso, Elaine M F Costa and Sorahia Domenice

MON 022

Spontaneous Hypothermia with Hyperhidrosis
Jacqueline V Reyes Diaz and Renee Bargman

MON 023

A Case of Congenital Hyperinsulinism Refractory to First and Second Line Therapy
Sylvia Robinson, Jacqueline Chan, Carla Minutti and Stelios Mantis

MON 024

Challenging Diagnosis: Anti-NMDA-Receptor Encephalitis with Subsequent Discovery of an Ovarian Teratoma
Tong Wooi Ch'ng, Elna Binu Kochummen, Vatcharapan Umpaichitra and Sheila Perez-Colon

MON 025

Case Report: Successful Methotrexate Therapy in Autoimmune Polyglandular Syndrome Type 1
Julia Rodica Broussard, Brandon Newell and Jill D. Jacobson

MON 026

A Case of Unusual Clitoromegaly
Tong Wooi Ch'ng, Swati Mehta and Vatcharapan Umpaichitra

MON 027

Difficulty in Diagnosing and Managing a Child with Hyperinsulinemic Hypoglycemia Secondary to Insulinoma
Nadia Merchant, Meenal Shewale Mendiratta, George Said Jeha and Andrea Erika Balazs

MON 028

Fatal Neuroinvasive West Nile Virus Infection in a Patient with Autoimmune Polyendocrine Syndrome Type 1. 
Luis Zamora-Siliezar, Jorge Mejia-Corletto, Prajith Mepparambath, Jacqueline Pena Velasco, Marina Epelman, Liana Gabriel, Moris Alejandro Angulo and Mariano Castro-Magana

MON 029

Early-Onset Diabetes Mellitus, Immunodeficiency, and Cardiomyopathy Associated with Compound Heterozygous IKZF2 Mutations
Michelle Blanco Lemelman, May Sanyoura, Yuanyuan Zha, Daniela Del Gaudio, Thomas Gajewski, Lisa Letourneau, Darrel Waggoner, Raoul Wolf, Elizabeth Eames Littlejohn, Siri Atma W Greeley and Louis H. Philipson

MON 030

A Rare Case of Olfactory Neuroblastoma Causing Siadh in a 16-Year-Old Girl
Susan E Tucker, Alexander Gallan, Erin Barr, Elizabeth Blair, Daniel Ginat, Susan Cohn and Siri Atma W Greeley

MON 031

A Case of Intermittent Severe Hypoglycemia
Sylvia Robinson, Carla Minutti and Stelios Mantis

MON 032

Dilemmas in the Clinical Work-up of Primary Hypertriglyceridemia
Yentl De Roeck, Theodorus B Twickler and Luc F Van Gaal

MON 033

MON 034

Clinical Screening in Dunnigan Type 2 Lipodystrophy Kindred
Irla Andrade Dantas, Antonio F Oliveira-Filho, Adriana Farrant Braz, Paula Frassinetti Vasconcelos Medeiros and Adriana Bezerra Nunes

MON 036

MON 037

Pushing the Envelope Again: Setting the Record Straight on Acquired Generalized Lipodystrophy
Shafaq Khairi, Nevin Ajluni, Adam H Neidert, Marvan Tayeh, Peedikayil Thomas, Meredith Rieberschleiger, Sandra Ines Camelo-Piragua, Jeffrey W Innis and Elif A Oral

MON 038

Management of Thyroid Hormone Resistance in Pediatrics
Seema Jain, Ioanna D Athanassaki and David L Paul

MON 044

A Case of Familial Congenital Hypothyroidism
Brynn Marks, Jessica R Smith and Ari Wassner

MON 045

Repeated Betadine Exposure Results in Acquired Neonatal Hypothyroidism
Mansa Krishnamurthy, Chijioke Ikomi, Nana-Hawa Yayah Jones and Nicole Sheanon

MON 047

Pheochromocytoma Presenting As Cardiogenic Shock in a Pediatric Patient
Carmen Dorina Mironovici, Srivani Avula, El Chiccarelli and Ricardo Gomez

MON 048

Graves’ Disease Neuropsychiatric Manifestations: Unusual Presentation in a 12 Year-Old Boy Authors: Fernanda S C Lopes1, Renata S De Oliveira1, Delia Braz2, Laís L Oliveira2  1 department of Pediatrics. Brasilia University Hospital. University of Brasilia School of Medicine 2 pediatric Endocrinology Graduation Program. University of Brasilia School of Medicine Abstract  Introduction: Graves’ Disease Is a Rare Condition Among Pediatric Patients and Co-Morbid Psychosis Have Been Seldom Described.   Clinical Case: We Report on a Twelve-Year-Old Boy Who Presented a Previous 5-Month Period of Irritability, Diarrhea, Weigh Loss, Tremors, Insomnia, Behavior Changes and Headaches. after Beginning with Visual and Hearing Hallucinations, Suicidal Behavior and Depression He Was Referred to the Pediatric Emergency Department and Put into Inpatient Care for Investigation.  He Was Diagnosed with Graves Disease (TSH < 0.008 mIU/L; FT4: 7.77 mcg/dL; anti-TSH receptor antibody -TRAb: 34.67 IU/L), and Also Tested Positive for Anti-Transglutaminase-IgA –Ttg: 37.8 UI and Anti-Endomysial IgA Antibodies –EMA: 2+/4+. Intestinal Biopsy Was Not Performed. Thyroid Ultrasound Showed an Enlarged Thyroid with Heterogeneous Echogenicity and Intense Vascularity. It Was Started Methimazole -Mmz (0.75 mg/kg/day); Propranolol (2 mg/kg/day) and Risperidone (0.5 mg/day). a Gluten-Free Diet Was Achieved for Only 2 Months, but Ttg Levels and EMA Evaluation Turned Negative throughout the 2-Year Follow-up. Hyperthyroidism Was Controlled, but Two Years after Diagnosis He Keeps Elevated Trab Levels (20.34 IU/L). Psychiatric Symptoms Were Attenuated, Therapy Was Changed to Fluoxetine, but He Maintained Sporadic Episodes of Hallucinations, Behavior Change and Depressive Behavior. Currently He Receives Quietiapine (25 mg/day) and Venlafaxine (150 mg/day) and Still Presents Mild to Moderate Depressive Status.  Even after Reintroduction of Gluten, No More Gluten Sensitivity Manifestations Were Referred. Although Ttg Elevated Levels Have Been Described in Some Neurologic Conditions, EMA Presents High Sensitivity and Specificity for Celiac Disease.  Conclusion: Graves’ Psychosis Have Been Described in Adult Patients, with Mean Ages Between 40-50 Years and a Higher Prevalence Among Women. There Are Also Reports on Adults Recovering from Neurologic and Psychiatric Manifestations Following Gluten Withdrawal from Diet. Nevertheless, Graves’ and Celiac Disease or Gluten Sensitivity Psychosis Is Not Common in Pediatric Patients, with a Few Cases Described. One Hypothesis for This Case Would be That This Adolescent’s Graves’ Psychiatric Manifestations Have Been Triggered and It Is Being Kept By an Interplay Between the Coexistence of the Anti-Thyroid Autoimmunity and Gluten Ingestion
Fernanda Sousa Cardoso Lopes and Renata Santarem Oliveira

MON 050

Trends in the Prevalence of Extreme Obesity Among Korean Children and Adolescents from 2001 to 2014
Hyo-Kyoung Nam, Hye Ryun Kim, Young-Jun Rhie and Kee-Hyoung Lee

MON 051

Association Between Vitamin D Status and Lipids Among Children with Severe Obesity
Anoop Mohamed Iqbal, Aida N Lteif, Amanda R Dahl, Sarah M Jenkins and Seema Kumar

MON 052

MON 053

the Prevalence and Risk Factors of Vertebral Fracture in Children with Acute Leukemia
Moon Bae Ahn, Jun Hui Lee, Shin-Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, So Hyun Park, Min Ho Jung and Byung-Kyu Suh

MON 054

Low Serum Alkaline Phosphatase in Children Beyond Hypophosphatasia
Voraluck Phatarakijnirund, Kwanjai Thanakitjaru, Phairuch Chaiyakul and Nawaporn Numbenjapon

MON 055

Macronutrient Intake Associated with Weight Gain in Adolescent Girls with Anorexia Nervosa
Charu Baskaran, Traci L Carson, Meghan Slattery, Shreya Tulsiani, Karen Joanie Campoverde Reyes, Kamryn T. Eddy, Ellen J Anderson, Jane L Hubbard, Madhusmita Misra and Anne Klibanski

MON 056

Activity of Xoma 358, an Inhibitor of Insulin Action Following Short-Term Administration to Congenital Hyperinsulinism Patients
Kirk W. Johnson, Ann C. Neale, Allan Gordon, Diva Del Carmen De Leon-Crutchlow, Khalid Hussain, Klaus Ludwig Mohnike, Sabine Vukelich, Julie M. Roessig and Paul D. Rubin