Hindawi Publishing Corporation Case Reports in Medicine Volume 2012, Article ID 587484, 4 pages doi:10.1155/2012/587484 Case Report Disorders of Sex Development: Management of Gender Assignment in a Preterm Infant with Intrauterine Growth Restriction Lucy D. Mastrandrea,1 Christine H. Albini,1 Ralph J. Wynn,2 Saul P. Greenﬁeld,3 Luther K. Robinson,4 and Tom Mazur1, 5 1 Division of Pediatric Endocrinology, Women & Children’s Hospital of Buﬀalo, School of Medicine and Biomedical Sciences, University at Buﬀalo, 219 Bryant Street, Buﬀalo, NY 14222, USA 2 Division of Neonatology, Women & Children’s Hospital of Buﬀalo, Buﬀalo, NY 14222, USA 3 Division of Pediatric Urology, Women & Children’s Hospital of Buﬀalo, Buﬀalo, NY 14222, USA 4 Division of Genetics, Women & Children’s Hospital of Buﬀalo, Buﬀalo, NY 14222, USA 5 Department of Psychiatry, School of Medicine and Biomedical Sciences, University at Buﬀalo, Buﬀalo, NY 14215, USA Correspondence should be addressed to Lucy D. Mastrandrea, ldm@buﬀalo.edu Received 27 October 2011; Accepted 1 December 2011 Academic Editor: Amy B. Wisniewski Copyright © 2012 Lucy D. Mastrandrea et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. We describe how a gender specialist team managed the case of a disorder of sex development in a preterm infant where deﬁnitive diagnosis and gender assignment were delayed due to complications of prematurity, anemia, and severe intrauterine growth restriction. 1. Introduction Disorders of sex development (DSD) represent a class of congenital conditions in which there is atypical development of the chromosomal, gonadal, or anatomical sex. Current recommendations suggest that a multidisciplinary team be used in the management of DSDs, ensuring that families receive information in a timely, coordinated, and consistent fashion [1]. Members of the team include, at a minimum, pediatric endocrinologists, behavioral specialists, pediatric urologists, geneticists, and, in some cases, neonatologists, nurses, and social work staﬀ [2]. Under ideal conditions, the behavioral specialist is a psychiatrist or psychologist with experience providing support to families facing the unique circumstances as well as medical and psychosocial decisions associated with DSDs. Here, we describe an unusual case of DSD complicated by prematurity and severe intrauterine growth restriction (IUGR), which limited the ability to complete comprehensive diagnostic testing. We describe how this team approach to managing gender assignment occurred in concert with the medical issues related to prematurity. 2. Case Report This 0.617 kg (-3SD) infant was born at 29 2/7 weeks to a 28-year-old G1P0 mother. At 18 weeks gestation, parents were informed that the infant was female based on results of a prenatal ultrasound. Amniocentesis performed later in the pregnancy revealed a 46, XY karyotype. The parents presumed that the initial ultrasound results were incorrect and were expecting a son. In the delivery room, genital appearance was discrepant with the karyotypic sex. The phal- lic structure was 4 mm in length (full-term female normal 4.0 ± 1.24 mm) [3, 4]. Labia majora were fused posteriorly with no signs of hyperpigmentation or scrotalization. Labia minora were absent, and gonads were not palpable. Introital exam revealed a urethral opening at the base of the phallic structure and a dimple consistent with a vaginal opening anterior to the fusion of the labia majora. The anal opening was normally placed. Pelvic ultrasound revealed no uterus and bilateral gonadal structures consistent with testes above the inguinal ring. The infant was transferred to the neonatal intensive care unit for medical management of prematurity,