Method Patients were examined, diagnosed and treated DSD or ambiguous sex at (NHP) from 31/07/2002 to 31/7/2012. Criteria that suggest DSD include 1. overt genital ambiguity (eg, cloacal exstrophy) 2. apparent female genitalia with an enlarged clitoris, posterior labial fusion, or an inguinal/labial mass 3. apparent male genitalia with bilateral undescended testes, micropenis, isolated perineal...

Disorders of sex development (DSD) represent a collection of rare diseases that generate substantial controversy regarding best practices for diagnosis and treatment. A significant barrier preventing a better understanding of how patients with these conditions should be evaluated and treated, especially from a psychological standpoint, is the lack of systematic and standardized approaches to id...

The birth of a child with ambiguous genitalia is a matter of a medical and social emergency to decide the appropriate sex rearing and eventually to prevent the associated metabolic disturbances. It must be taken with immediacy and great sensitivity. The pediatric endocrinologist should share the care with a team consists of a pediatric urologist, or surgeon, a pediatric radiologist, geneticist ...

One of the defining events during human embryonic development with the most far-reaching effects for the individual is whether the embryo develops as male or female. The crucial step in this process is the differentiation of the bipotential embryonic gonads into either testes or ovaries. If the embryo inherits X and Y sex chromosomes, the Y-linked SRY (sex determining region in Y) gene initiate...

BACKGROUND/AIMS Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Optimal management is patient- and family-centered and delivered by interdisciplinary teams. The present pilot study elicits concerns held by important stakeholders on issues affecting young patients with DSD and their families. METHODS Content f...

Abstract Controversy continues over a proposed moratorium on elective genital surgery in childhood for disorders/differences of sex development (DSD). Empirical evidence patient preference is needed to inform decision-making. We conducted multicentre survey by cross-sectional questionnaire 14 specialized clinics six European countries. The sample comprised 459 individuals (≥ 16 years) with DSD ...