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Urology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Disorders of sex development (DSD) is a complex group of disorders with diverse pathophysiology that affect the internal and/or external genitalia (Fig. 22.31). Patients present in the newborn period with atypical genitalia or in adolescence with abnormal sexual development during puberty. Patients with DSD are best managed by a multi-disciplinary team, and where this experience is not available referral to a regional DSD centre is mandatory. For further information on how to evaluate a new patient with DSD the reader is referred to the UK clinical guidelines and Chapter 13 Endocrinology, page 402 for a diagnostic classification of DSD.
Variation of sex differentiation
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Anne-Marie Amies Oelschlager, Margarett Shnorhavorian
Terms such as “hermaphrodite” or calling the baby “it” should be avoided. Confusing and controversial terms, including true hermaphrodite, pseudohermaphrodite, XX male, sex reversal, testicular feminization, and undermasculinization, have been replaced with categorization by karyotype and include 46,XY DSD; 46,XX DSD; and sex chromosome DSD. Initially, the term DSD was “disorders of sex development,” but more currently, DSD is used to signify “differences of sex development,” Some patients and parents will prefer the term “intersex” to “DSD.” Refer to Table 7.6 for current terminology describing DSD conditions.49
Normal and abnormal development of the genitalia
Published in David M. Luesley, Mark D. Kilby, Obstetrics & Gynaecology, 2016
Rebecca Deans, Sarah M Creighton
Fetal development of the gonads, external genitalia, Müllerian ducts and Wolffian ducts can be disrupted at a variety of points, leading to a wide range of conditions with a large spectrum of clinical presentations. Disorders of sex development (DSD) occur when there is a disruption of either gonadal differentiation or fetal sex steroid production or action. Müllerian anomalies and Wolffian duct remnants occur when there is disruption of the embryological development of these systems. An understanding of embryology, as well as molecular genetics, helps us determine the biological basis of these conditions. Many of these cases present in infancy, with initial investigations and treatment performed by pae-diatric endocrinologists. Some will present for the first time to the gynaecologist and fertility subspecialist with primary amenorrhoea or infertility. Paediatric and urological surgeons may have initially treated others. Patients with DSDs may have coexisting medical problems and require thorough evaluation. As well as anatomical and fertility concerns for these patients, there are often many psychological issues; therefore management in a multidisciplinary team (MDT) is essential for the management of more complex cases. In some conditions, the optimal operative management is still uncertain, and there is currently debate regarding the optimal timing or need for genital surgery in patients with DSD conditions who present in childhood.
Molecular study and genotype–phenotype in Chinese female patients with 46, XY disorders of sex development
Published in Gynecological Endocrinology, 2021
Junke Xia, Jing Wu, Chen Chen, Zhenhua Zhao, Yanchuan Xie, Zhouxian Bai, Xiangdong Kong
The disorders of sex development (DSDs) are congenital conditions characterized by atypical chromosomal, gonadal, and phenotypic sex [1]. DSDs are generally divided into three groups according to karyotype: sex-chromosomal DSDs, 46, XX DSDs, and 46, XY DSDs. Notably, 46, XY DSDs have the most complicated etiology and could be attributed to three categories: (1) disorders of gonadal (testicular) development related to sex-determining region Y (SRY), SOX9, and NR5A1 gene variants; (2) gene defects leading to androgen biosynthesis and dysfunction; and (3) other disorders not classified into the above categories. The clinical phenotype of 46, XY DSDs is highly heterogeneous, varying from male hypospadias to typical female vulva. Furthermore, 46, XY DSDs in females are rare conditions characterized by male karyotype and female phenotype according to external genitalia and secondary sexual characteristics.
Ovotestis at 18 years: an accidental discovery in an internally displaced persons’ camp in North-Eastern Nigeria
Published in Journal of Obstetrics and Gynaecology, 2019
Hadiza Abdullahi Usman, Bala Mohammed Audu, Mohammed Bukar, Ahmed A. Mayun
Disorders of sex development (DSD) are rare congenital conditions in which the development of the chromosomal, gonadal or anatomic sex is atypical. Ovotesticular disorder of sex development (OT-DSD) is characterised by the presence of both ovarian and testicular tissues in the same individual (Lee et al. 2006). It constitutes about 10% of cases of DSD with over 400 cases being reported worldwide (Josso et al. 2011). Among black South Africans, the incidence of OT-DSD in paediatric patients presenting with ambiguous genitalia is as high as 51% (Wiersma and Ramdial 2009). A diagnosis of OT-DSD is made mostly at birth or in early childhood when they present with ambiguous genitalia. However, a late presentation is not uncommon (Osifo and Amusan 2009; Nataraj and Shreeharsha 2015).
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
When in 2006 the Chicago consensus introduced the term Disorders of Sex Development (DSD), one goal was to render the new terminology more understandable to patients and their families and be sensitive to their concerns. Four years after the initial publication, 100% of the pediatric endocrinologists in Europe reported using the new terminology (Pasterski et al., 2010a) and between 2010 and 2014 there was an exponential increase in the use of the term Disorders of Sex Development across a range of journals (Hughes, 2015). Such a profound and rapid change in terminology is without parallel in recent medical practice (Pasterski et al., 2010a). Disorders of Sex Development can be considered as being a paradigm shift, not only in the use of a new nomenclature but also in the underlying classification (Khadilkar & Phanse-Gupte, 2014). However, since its introduction, the new term has attracted criticism by members of support groups, as well as ethicists, sociologists, clinicians and researchers. The term disorder is said to pathologize atypical sex development and, thus, nurture the widespread, yet false, attitude that a medical, instead of a social or political, approach is appropriate. Empirical studies – quantitative as well as qualitative – conducted since 2006 appear to support the view that the term Disorders of Sex Development is not sensitive to patient concerns, but the evidence is still inconclusive. Some authors underline that the change of the nomenclature can also be understood as normalizing conditions labeled as Disorders of Sex Development in a positive sense (Feder, 2009).