ESPE Abstracts

Sex differentiation and development are complex processes reflecting the precise spatiotemporal expression of specific genes and interactions among gene products. In some instances, peripheral blood karyotype diverges from anticipated findings based on phenotypic features. Ascertaining for chromosomal mosaicism aids the shared decision-making discussions with families and other health care providers. We have investigated for sex chromosome mosaicism in 13 patients by using flu...

Background: Among 46,XY individuals, androgen insensitivity syndrome (AIS) due to deleterious variants of the androgen receptor (AR) gene is one cause for a difference of sexual development (DSD). Typically, individuals with complete androgen insensitivity syndrome (CAIS) present with female external genitalia and palpable labial masses. Whereas most patients carry germline variants inherited in an X-linked manner, approximately 30% of patients manifest de novo variants. We de...

Objective: The original consensus-based Rotterdam criteria, now evidence-based criteria, is recommended for the diagnosis of PCOS in adult women. These criteria state that PCOS can be diagnosed when two of three major criteria (anovulatory cycles, clinical/biochemical hyperandrogenism, and polycystic ovary morphology or elevated AMH levels) are present and other potential etiologies have been excluded. Use of these criteria in adolescent girls is problematic b...

The treatment of Polycystic Ovary Syndrome (PCOS) during adolescence is controversial. The aim of the international evidence-based guideline was to promote accurate diagnosis, optimal consistent care, prevention of complications and to improve patient experience and health outcomes. Extensive international health professional and patient engagement informed the priorities and core outcomes for the guideline. Internationally nominated panels including women with PCOS and a mult...

Background: Early genetic diagnosis in patients with disorders of sex development (DSDs) can facilitate clinical management, predict recurrence risks, and augment general knowledge. Novel techniques such as SNP microarrays, GWAS, and exome sequencing have identified mutations in the coding regions of genes linked to DSDs. In some instances, variants in non-coding regions have been associated with 46,XY gonadal dysgenesis, e.g. deletions upstream of SOX9 (PLoS One 2011...