Introduction to the Special Section: Disorders of Sex Development

Abstract

In 2005, an international group of health-care experts, researchers, and patient advocates convened in Chicago to formulate a consensus on the clinical care of persons born with intersex conditions. The Consensus Statement on Management of Intersex Disorders, published in 2006, recommended eliminating confusing and potentially stigmatizing terms such as "intersex," "pseudohermaphroditism," "hermaphroditism," and "sex reversal" to refer to these conditions. The conference summary (hereafter referred to as the Consensus Statement)-adopted by the American Academy of Pediatrics as a policy statementincorporated all variations in somatic sex development under the umbrella term Disorders of Sex Development (DSD), defined as "congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical" (Lee, Houk, Ahmed, Hughes, & in collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology, 2006). In the majority of the cases, DSD are detected at birth owing to atypical genital appearance; in other cases, the condition only becomes apparent at the time of puberty (e.g., failure to menstruate in girls with a 46,XY karyotype and Complete Androgen Insensitivity syndrome, CAIS). In both early-and late-diagnosed cases, one or more aspects of sex determination or differentiation is/are atypical. "Sex determination" refers to differentiation of the bipotential gonad into either testis or ovary and "sex differentiation" involves formation of the internal

Patients with disorders of sex development

“…Also, examinations should include assessments of height, body mass index, blood pressure, sexual maturity rating (of breasts as well as pubic hair), and external genitalia to look for any ambiguity/virilization (e.g., clitoromegaly, posterior labial fusion, labial or inguinal swellings). 20) The investigative work-up should include LH, FSH, estradiol, and testosterone and ultrasound of the pelvis should be performed by an experienced sonologist. Karyotyping should be done if either the gonadotropins are raised or the uterus is absent.…”

“…History-taking should include a family history of DSDs, parental consanguinity, and a history of having noted any genital ambiguity in infancy or having undergone any surgical procedures. Also, examinations should include assessments of height, body mass index, blood pressure, sexual maturity rating (of breasts as well as pubic hair), and external genitalia to look for any ambiguity/virilization (e.g., clitoromegaly, posterior labial fusion, labial or inguinal swellings) [ 20 ].…”

Predicting GP visits: A multinomial logistic regression investigating GP visits amongst a cohort of UK patients living with Myalgic encephalomyelitis

“…Psychology has long recognised the importance of gender [6,29,30] which is most usefully considered as a function of social and developmental factors rather than as an essentialist actuality. Sandberg, Pasterski, and Callens, [31] for example argued that different psychosexual developmental experiences manifest in women as a sense of self that is relational, whereas men's sense of self is more independent and less contingent on interpersonal connection [5,23,30].…”

Study on 46 XY Disorders of Sex Development

“…Disorders of sex development (DSD) include a heterogeneous group of heritable disorders of sex determination and differentiation 1 where there is a discrepancy in the chromosomal, gonadal, and anatomical sex 2 . DSD cases are detected mostly during the time of birth on the ground of atypical genital appearance; in other cases, the condition only becomes evident at the time of puberty 3 . Though, whether the diagnosis be early or late, there is persistent presence of one or more atypical deviation from normal sex determination (differentiation of the bipotential gonad into either testis or ovary) or differentiation (formation of the internal reproductive anatomy and external genitalia under hormonal influence) 4 46, XY DSD have lower virilization of genitals compared to normal 46, XY individuals 5 .…”