Normal and abnormal development of the genitalia
David M. Luesley, Mark D. Kilby in Obstetrics & Gynaecology, 2016
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.
Genitalia, Ambiguous (Including Congenital Anomalies)
Tony Hollingworth in Differential Diagnosis in Obstetrics and Gynaecology: An A-Z, 2015
There has been significant progress in diagnosis, understanding the pathology, improvement in surgical techniques, understanding the psychosocial issues, and accepting the place of patient advocacy. Terms such as intersex, pseudohermaphroditism, hermaphroditism, and sex reversal are all controversial, and are perceived by parents as potentially stigmatising and confusing. The European Society for Paediatric Endocrinology (ESPE) and its American counterpart, the Lawson Wilkins Pediatric Endocrine Society (LWPES), have jointly published a consensus statement on the management and nomenclature of intersex disorders. The new nomenclature for this condition is disorders of sex development (DSD). DSD is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The proposed changes in nomenclature are outlined in Table 1.
Disorders of sexual development
Prem Puri in 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).
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).
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