Hypospadias is one of the most common congenital malformations of the genitourinary tract in males. It is an incomplete fusion of urethral folds early in fetal development and may be associated with other malformations of the genital tract. The etiology is poorly understood and may be hormonal, genetic, or environmental, but most often is idiopathic or multifactorial. Among many possible risk factors identified, of particular importance is low birth weight, which is defined in various ways in the literature. No mechanism has been identified for the association of low birth weight and hypospadias, but some authors propose placental insufficiency as a common inciting factor. Currently, there is no standardized approach for evaluating children with hypospadias in the setting of intrauterine growth restriction. We reviewed the available published literature on the association of hypospadias and growth restriction to determine whether it should be considered a separate entity within the category of disorders of sexual differentiation.

Developmental delay (DD) is among the most common serious problems encountered by the general pediatrician. Published guidelines exist that recommend a genetics evaluation be a routine part of the evaluation of these children [Curry et al. (1997) Am J Med Genet 72:468-477; American Academy of Pediatrics (2001) Peds 108:192-195]. In an effort to determine if this recommendation is widely followed, we surveyed Alabama general pediatrics to learn how they utilize a genetic assessment in their evaluation of unexplained DD, and to identify any barriers to a genetics evaluation. A questionnaire was developed that asked about various factors that might influence how pediatricians use genetic evaluations. It was mailed to all members of the Alabama chapter of the American Academy of Pediatrics. The data were tabulated and analyzed by standard methods. One hundred thirty-seven of 653 surveys were returned. The respondents were evenly divided among urban (35%), suburban (33%), and rural (32%) practice settings. Most were in a non-academic group practice (71%) and not fellowship trained (76%). Most felt that a genetic evaluation will help define recurrence risk (96%), determine prognosis (96%), and guide patient management (95%). There was limited concern that a genetics evaluation would increase the cost of evaluation (24%) and that it would not eliminate unnecessary testing (64%). The most common indications for referral were the presence of birth defects (93%), positive family history of DD (88%), unusual facial appearance (88%), and parent request (71%). Poor growth was not as strong an indicator. Lack of meaningful results (20%) and expense (18%) were common reasons not to refer, and 48% also cited "other" reasons. Likelihood to refer did not differ by practice location (rural vs. suburban), but distance from a genetics center was a factor. Alabama general pediatricians appreciated the benefits of a genetic evaluation for DD, but several barriers were identified. These issues that must be addressed in order to make a genetics evaluation available to all children with DD.

Disorders of sexual differentiation such as androgen insensitivity and gonadal dysgenesis can involve an intrinsic fluidity at different levels, from the anatomical and biological to the social (gender) that must be considered in the context of social constraints. Sex assignment models based on George Engel’s biopsychosocial aspects model of biology accept fluidity of gender as a central concept and therefore help establish expectations within the uncertainty of sex assignment and anticipate potential changes. The biology underlying the fluidity inherent to these disorders should be presented to parents at diagnosis, an approach that the gender medicine field should embrace as good practice. Greek mythology provides many accepted archetypes of change, and the ancient Greek appreciation of metamorphosis can be used as context with these patients. Our goal is to inform expertise and optimal approaches, knowing that this fluidity may eventually necessitate sex reassignment. Physicians should provide sex assignment education based on different components of sexual differentiation, prepare parents for future hormone-triggered changes in their children, and establish a sex-assignment algorithm.

Introduction While type 1 diabetes is frequently encountered clinically in pediatric endocrinology fellowship training, other types of diabetes may only be encountered in educational settings. Adult learners learn best through knowledge application, but to date there are no published curricula utilizing application educational strategies for all forms of diabetes. Methods We utilized a team-based learning (TBL) approach to create four modules on different types of diabetes: type 1 diabetes, type 2 diabetes, neonatal diabetes, and maturity-onset diabetes of the young. We divided our fellows (all training years, n = 11) into two teams and delivered four separate, 90-minute sessions. To emphasize the application of knowledge, we modified the format to combine the readiness assurance test (RAT) with application problem (APP) questions. The combined RAT/APP questions were answered by individuals and teams. We analyzed scores from individual and team tests and evaluated each module. Additionally, we acquired subjective data from the fellows regarding their experiences. Results Teams outperformed individuals on the tests, as expected (94% vs. 76% correct questions, respectively). All the fellows agreed that the sessions should be included permanently. Additionally, all agreed the sessions helped them apply knowledge. Subjectively, the fellows were very engaged and lively during the sessions and felt the sessions were feasible as implemented. Discussion TBL can be a valuable educational strategy to increase the application of knowledge for diabetes in pediatric endocrinology fellows. Future studies examining the use of this strategy to increase critical thinking skills and knowledge retention in the long-term would be useful.