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Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
Ambiguous genitalia are usually present at birth. The gender of the child should not be assigned without confirmation. If possible, referral to an expert Disorders of Sex Development (DSD) team should be made. Note should be made of presence or absence of palpable gonads and their position if felt. External genitalia can be described as Prader staging. The disorder may be associated with salt loss in salt-losing congenital adrenal hyperplasia (see pages 403–4). There may be associated dysmorphic features.
Major neonatal conditions
Published in Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague, Paediatric Surgical Diagnosis, 2018
Spencer W. Beasley, John Hutson, Mark Stringer, Sebastian K. King, Warwick J. Teague
Disorders of sex development may be produced by dysplasia of one or both testes. When both testes are dysplastic, deficiency of androgen may cause incomplete virilisation, and deficiency of AMH may allow persistence of Mullerian duct structures. Usually, both testes are undescended because they are unable to secrete enough hormones to enable testicular descent. In the asymmetrical form of dysplastic testes (mixed gonadal dysgenesis), one gonad may be a testis that has descended with preservation of the ipsilateral Wolffian duct and local regression of the Mullerian duct. The more dysplas- tic testis usually remains in the abdomen and has failed to cause regression of the Mullerian duct or preservation of the Wolffian duct. Infants with mixed gonadal dysgenesis may appear to be males with severe hypospadias and one palpable testis. These dysplastic testes have an increased risk of malignant degeneration.
Disorders of sexual development
Published in Prem Puri, Newborn Surgery, 2017
The Consensus Statement on Management of Intersex Disorders proposes the term disorders of sex development (DSDs), defined as congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Occasionally, patients with previously unrecognized DSD present later in infancy or puberty. The history of DSD management shows how, in the past, the recommendations for gender assignment of infants with ambiguous genitalia have been guided by the phenotypic appearance of the genitalia. The sex of rearing was mainly decided on the basis of what was believed would facilitate the “most functional genitalia and offer the child their best opportunity to reach normality” (Hughes et al. 2006).
Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study
Published in Fetal and Pediatric Pathology, 2022
Mahboobeh Rafigh, Arash Salmaninejad, Behzad Sorouri Khorashad, Azadeh Arabi, Saman Milanizadeh, Mehran Hiradfar, Mohammad reza Abbaszadegan
Gender of rearing in newborns with abnormal genitalia is a critical and challenging issue in medicine [1]. Approximately 1 in 4500 infants are born with abnormalities in the genital system, which can be caused by a variety of genetic or multifactorial defects, some of which are still unknown. Among those, molecular mechanisms underlying several types of malformations in phenotypic female patients with disorders of sex development (DSD) are not fully understood. DSD is defined as a congenital disconcordance between chromosomal, gonadal or anatomical sex [2]. Infants with 46, XY DSD have female characteristics, however, a third may decide to transition to male at puberty, at a time androgen levels increase [3]. Therefore, finding the cause of these conditions are essential because a correct diagnosis is important for appropriate patient management.
Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology
Published in The Journal of Sex Research, 2021
Elena Bennecke, Birgit Köhler, Robert Röhle, Ute Thyen, Katharina Gehrmann, Peter Lee, Anna Nordenström, Peggy Cohen-Kettenis, Clair Bouvattier, Claudia Wiesemann
According to the Chicago consensus, conditions can be classified into three groups depending on karyotype and pathogenesis: sex chromosome DSD, XY DSD and XX DSD. Sex chromosome DSD includes mixed gonadal dysgenesis (46,XY/45,XO), 46,XY/46,XX conditions as well as Turner syndrome and Klinefelter syndrome. XY DSD incorporates XY gonadal dysgenesis, androgen insensitivity syndrome (AIS), disorders of androgen synthesis, disorders of AMH synthesis and action, and severe hypospadias. The XX DSD category includes congenital adrenal hyperplasia (CAH), XX gonadal dysgenesis, and uterine and vaginal anomalies. Thus, the umbrella term Disorders of Sex Development includes conditions with diverse genetic etiology, varying levels of prenatal androgen effects, and varying phenotypes of genitalia (Jürgensen et al., 2010). It is recognized that this is not an ideal classification as, for example, ovotesticular DSD karyotypes vary to a large degree and may be listed within any of the three categories.
Intersex or Diverse Sex Development: Critical Review of Psychosocial Health Care Research and Indications for Practice
Published in The Journal of Sex Research, 2019
In 2006, a new era in intersex health care was ushered in by the international consensus of experts who met in Chicago and subsequently published what is now widely known as the Consensus Statement (Hughes, Houk, Ahmed, & Lee, 2006). Key suggestions and changes included (a) the introduction of new diagnostic terminology under the umbrella of Disorders of Sex Development (DSDs), (b) a more cautious approach to early genital surgery intended to alter the sexed appearance, (c) the routine involvement of multidisciplinary teams (MDTs), with psychological input, in the care of affected children and young people, and (d) the routine disclosure of diagnostic and treatment information, in age-appropriate ways, to those who are personally affected. The decade that followed this international consensus saw ongoing debates about, and patchy uptake of, each of these key proposals. At least some aspects of early genital surgery have gone on relatively uninterrupted despite the proposed cautious approach (Michala, Liao, Wood, Conway, & Creighton, 2014), and it is not clear that psychological input is routinely available (Kyriakou et al., 2016). The current review focuses on literature published in the years since the Consensus Statement.