UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

Ahmed, S Faisal; Achermann, John C.; Arlt, Wiebke; Balen, Adam; Conway, Gerard; Edwards, Zoe; Elford, Sue; Hughes, Ieuan A.; Izatt, Louise; Krone, Nils; Miles, Harriet L.; O’Toole, Stuart; Perry, Les; Sanders, Caroline; Simmonds, Margaret; Wallace, Andrew M.; Watt, Andrew; Willis, Debbie

doi:10.1111/j.1365-2265.2011.04076.x

Cited by 146 publications

(125 citation statements)

References 54 publications

Supporting

Mentioning

111

Contrasting

Unclassified

Order By: Relevance

“…Pediatrics 2014;134:e710-e715 Disorders of sex development (DSDs) represent a wide range of rare congenital conditions with a diverse pathophysiology that alter the development of chromosomal, gonadal, or anatomic sex 1 and that often require expert input from early infancy. 2 Although the etiology may not be clear in a large proportion of cases, in many the condition may have occurred due to a disorder of gonadal development (DGD), a disorder of androgen synthesis (DAS), or a disorder of androgen action, such as partial androgen insensitivity syndrome (PAIS). Affected newborns often present with atypical genitalia, and these clinical situations can often be difficult to manage, particularly when the sex of rearing is uncertain.…”

Section: Resultsmentioning

confidence: 99%

Changes Over Time in Sex Assignment for Disorders of Sex Development

et al. 2014

Self Cite

View full text Add to dashboard Cite

WHAT'S KNOWN ON THIS SUBJECT: XY disorders of sex development have a diverse etiology and often present with atypical genitalia in the newborn period. Sex assignment in those cases in whom this is marked genital ambiguity is a rare, challenging situation that requires multidisciplinary input. WHAT THIS STUDY ADDS:An international registry has shown temporal changes over the last 3 decades in the practice of sex assignment with a greater proportion of severely affected infants being raised as boys, raising the need for long-term monitoring of these children. abstract BACKGROUND AND OBJECTIVE: It is unclear whether the proportion of infants with a disorder of sex development who are raised as male or female has changed over time. The temporal trends in sex assignment of affected cases entered in the International Disorder of Sex Development (I-DSD) Registry were studied. METHODS:Cases of disorders of sex development reported as partial androgen insensitivity syndrome (PAIS; n = 118), disorder of gonadal development (DGD; n = 232), and disorder of androgen synthesis (DAS; n = 104) were divided into those who were born before 1990, 1990-1999, and after 1999. External appearance of the genitalia was described by the external masculinization score. RESULTS:The median (5th-95th percentile) external masculinization scores of those infants with PAIS, DGD, and DAS who were raised as boys were 6 (2-9), 6 (3-9), and 6 (1-12), respectively, and were significantly higher than in those raised as girls (2 [0-6], 2 [0-7], and 0 [0-5], respectively); this difference was maintained in the 3 temporal birth cohorts (P , .01). Of the 118 cases in the pre-1990 cohort, 41 (35%) were raised as boys; of the 148 cases in the 1990-1999 cohort, 60 (41%) were raised as boys; and of the 188 cases in the post-1999 cohort, 128 (68%) were raised as boys.

show abstract

Section: Resultsmentioning

confidence: 99%

Changes Over Time in Sex Assignment for Disorders of Sex Development

et al. 2014

Self Cite

View full text Add to dashboard Cite

show abstract

“…In infants with a karyotype other than 46, XX there is a need to understand whether the child has any testicular tissue, whether this tissue is functional, whether it has the capacity to produce testosterone in the future, whether the testosterone it produces can be converted into dihydrotestosterone (DHT) and whether the child has any evidence of androgen resistance. In addition, there is a need for careful assessment of the internal as well as the external anatomy of the reproductive organs and there is a need to assess the possibility of co-existing conditions including adrenal insufficiency (9). An assessment of functional testicular tissue is usually performed by a combination of examination, imaging and biochemical investigations including measurement of anti-Müllerian hormone (AMH), a marker of Sertoli cell function (10), and the synthesis of testosterone following stimulation with human chorionic gonadotrophin (hCG).…”

Section: Current Evaluation Pathways and Diagnostic Uncertainty In Dsdmentioning

confidence: 99%

The current state of diagnostic genetics for conditions affecting sex development

2017

View full text Add to dashboard Cite

Disorders of sex development (DSD), are a group of rare congenital conditions. Unlike 46, XX DSD where the cause is usually clear, identification of a cause of XY DSD is often unclear and may be attributed to a disorder of gonadal development, androgen synthesis or androgen action. Reaching a firm diagnosis is challenging and requires expertise within a framework that abides by the highest standards of clinical care. Whilst conditions associated with altered sex development have improved our fundamental understanding of sex and gonadal development, it is debatable whether this improvement in our understanding has improved the lives of people with DSD. Thus, there is a need for more emphasis on showing that a firm diagnosis for conditions associated with DSD is associated with a change in clinical practice that benefits the patient. With the rapid advances in diagnostic technology, there is also a need for clearer guidance on the relative merits of biochemical vs genetic evaluation. The standardization and harmonization of complex genetic and biochemical analyses for rare conditions are issues that require further guidance and it is probably that international networks and registries for rare conditions will facilitate the development of this framework.

show abstract

“…The need for assessment and management by a multidisciplinary team has been emphasised (Ahmed et al, 2011;Brain et al, 2010;Lee et al, 2006) and may include gender assignment at birth, genital reconstructive surgery, sex steroid replacement, and psychosocial management .…”

Section: Dsd: Mothers' Experiences Of Supportmentioning

confidence: 99%

Disorders of sex development: Mothers’ experiences of support

Chivers

Burns

Collado

2017

Clin Child Psychol Psychiatry

View full text Add to dashboard Cite

Background: An increasing body of research has sought to determine the impact of Disorders of Sex Development (DSD) on the family of the affected child. Little is currently understood about the support needs of the family and how well these needs are met. Methods:Interpretive Phenomenological Analysis was used to analyse semi-structured interviews with eight mothers of children with DSD about their experiences of support.Results: Four master themes emerged which encapsulated (a) the stages in their child's development when mothers most needed support, (b) the importance of developing an understanding of the child's condition, (c) the lack of acknowledgement of the emotional needs of the parent and (d) the importance of having close and trusted networks for support. Continuity and availability of support were considered important and while all participants prioritised maintaining privacy about the condition, a minority felt that this impacted on the level of support they received. Conclusions:Key time points for support were identified and while some felt that they were well supported others felt that the support available did not meet their emotional needs. Clinical implications and directions for future research were considered.

show abstract

UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development

Cited by 146 publications

References 54 publications

Changes Over Time in Sex Assignment for Disorders of Sex Development

Changes Over Time in Sex Assignment for Disorders of Sex Development

The current state of diagnostic genetics for conditions affecting sex development

Disorders of sex development: Mothers’ experiences of support

Contact Info

Product

Resources

About