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Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq) x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development.

Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected patients. We created a novel DSD-genetic diagnostic tool, in which sex development genes are captured using RNA probes and undergo massively parallel sequencing. In the pilot group of 14 patients, we determined sex chromosome dosage, copy number variation, and gene mutations. In the patients with a known genetic diagnosis (obtained either on a clinical or research basis), this test identified the molecular cause in 100% (7/7) of patients. In patients in whom no molecular diagnosis had been made, this tool identified a genetic diagnosis in two of seven patients. Targeted sequencing of genes representing a specific spectrum of disorders can result in a higher rate of genetic diagnoses than current diagnostic approaches. Our DSD diagnostic tool provides for first time, in a single blood test, a comprehensive genetic diagnosis in patients presenting with a wide range of urogenital anomalies.

Several investigators have documented that depressive and anxiety disorders are frequently present in individuals with eating disorders. This study reports on three aspects of the relationship between depressive and anxiety disorders in eating disorder patients. Eating-disordered subjects, as a group, were not significantly different in their lifetime or concurrent rates of depressive or anxiety disorders, although anorectics were characterized by significantly more frequent lifetime rates of depressive than anxiety disorders. Bulimic-anorectics were significantly more likely than bulimics to co-present with a major depressive disorder. There were no significant group differences in the concurrent rates of anxiety disorders between bulimic, anorectic, and bulimic-anorectic subjects. Bulimic-anorectics, however, were significantly more likely than anorectic subjects to qualify for obsessive-compulsive disorder at some point in their lifetime. Thus, with regard to Axis I co-morbidity, bulimic-anorectics would appear to be the most pathological of the eating disorder subgroups.