Case Reports: Pediatric Endocrinology (posters)

SAT-0122

Persistent Müllerian Duct Syndrome Associated with 46,XY, Del(10q25.3q26.13)
Mustafa Tosur, Cara A Geary, Ravi S Radhakrishnan, William F Tarry, Jianli Dong, Reuben Matalon and Phillip D K Lee

SAT-0124

Familial Hand-Foot-Genital Syndrome Associated with Deletion of HOXA13
Emir Tas, Jessica Sebastian, Svetlana A Yatsenko, Suneeta Madan-Khetarpal, Francis X Schneck and Selma Feldman Witchel

SAT-0126

Three Families of Pseudohypoparathyroidism Type 1a (PHP1a) with Delayed Language Development during Early Childhood
Yuichi Miyakawa, Yohei Matsubara, Atsumi Tsuji, Kei Takasawa and Kenichi Kashimada

SAT-0127

SAT-0131

Novel Mutations of the Pericentrin Gene in Korean Brothers Leading to Diagnosis of Majewski Osteodysplastic Primordial Dwarfism Type II Syndrome
Hae Woon Jung, Hwa Young Kim, Kyung Min Lee, Andrew Dauber, Vivian Hwa, Ron G Rosenfeld, Young Ah Lee, Choong Ho Shin and Sei Won Yang

SAT-0132

Normal Stature in a Case of Turner Syndrome: When It Is Possible?
Maria Fernanda Contreras, Bina Shah and Resmy Palliyil Gopi

SAT-0135

Kenny-Caffey Syndrome: An Expanded Phenotype and Response to Growth Hormone Therapy
Melissa Bauters, Michael Guo, Andrew Dauber and Emily C Walvoord

SAT-0137

Autosomal Recessive Hypophosphatemic Rickets 1 Due to Novel Nonsense and Deletion Compound Mutations in DMP1 Encoding Dentin Matrix Protein-1
Nursen Gurtunca, Michael A. Levine, Suneeta Madan-Khetarpal, Jessica Hartman and Luigi R Garibaldi

SAT-0139

A Novel Heterozygous Insulin-like Growth Factor 1 Receptor (IGF1R) Gene Deletion in a Child with Short Stature and Neurofibromatosis 1
Marjorie C Golekoh, Shayne F Andrew, Vivian Hwa, Ron G Rosenfeld and Philippe Backeljauw

SAT-0140

Diazoxide Induced Pulmonary Hypertension in an Infant
Rajan Senguttuvan, Mona Saleh, Mark Wheeler, Chetanbabu Patel, Cindy Chin and Priti Patel

SAT-0141

Microdeletion in the Sry Gene in a Phenotypic Female 46, XY Patient with Swyer Syndrome
Margarida Vieira, Joana Simoes-Pereira, Ana Teixeira and Maria Conceição Pereira