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Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/isbn.978-3-318-02559-0
EISBN: 978-3-318-02559-0
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363674
EISBN: 978-3-318-02559-0
... Abstract The past 20 years have seen proliferation of electronic (e) resources that promote improved understanding of disorders of sex development (DSD): e-learning for physicians and trainees, e-consultation between clinicians, and e-information for families and affected individuals. Recent e...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363676
EISBN: 978-3-318-02559-0
... Abstract Differences or disorders of sex development (DSD) are a wide range of relatively rare conditions with diverse pathophysiology that most often present in the newborn or the adolescent. Given their rarity and the need for input from a range of clinical disciplines, the management...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363672
EISBN: 978-3-318-02559-0
... of sex development (DSD) was formulated in 2005, and their standard of care was specified in a consensus document in 2006. [ 1 ]. Some debate still exists among various international advocates and academia about the use of the word ‘disorders' for conditions which come primarily under the domain...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363637
EISBN: 978-3-318-02559-0
... as an important part of continuous care for young people with disorders of sex development (DSD), just as it is for all young people affected by chronic medical conditions. There is evidence that the medical community is failing to transition young people with DSD safely, the result being that young people...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363634
EISBN: 978-3-318-02559-0
... Abstract The 2006 Consensus Statement on Management of Intersex Disorders describes peer support as integral to a comprehensive model of care for disorders of sex development (DSD). Affected adults and families look to peer support groups (PSG) for informational, emotional and social support...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
EISBN: 978-3-318-02559-0
...References References 1. Johannsen TH, Ripa CP, Mortensen EL, Main KM: Quality of life in 70 women with disorders of sex development. Eur J Endocrinol 2006;155:877-885. 2. Wisniewski AB, Mazur T: 46,XY DSD with female or ambiguous external genitalia at birth due to androgen insensitivity...
Book Chapter
Series: Endocrine Development
Volume: 22
Published: 30 July 2012
10.1159/000326631
EISBN: 978-3-8055-9337-3
... Abstract The disorders of sex development (DSD) refer to the insufficient virilization of the external genitalia of a 46,XY fetus or the excessive virilization of those of the 46,XX fetus. Some of these disorders are associated with karyotype abnormalities. DSD arise from abnormal gonadal...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363633
EISBN: 978-3-318-02559-0
... development (DSD). In this article, we review the current evidence of the fertility potential of patients with: (1) dysgenetic DSD, including pure and partial gonadal dysgenesis, asymmetric gonadal differentiation, ovotesticular DSD and 46,XX testicular DSD; (2) 46,XY DSD due to abnormal testicular hormone...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363632
EISBN: 978-3-318-02559-0
... medical knowledge. This distinction should be kept in mind because in the case of disorder of sex development (DSD) the concept of normality is currently challenged and is likely to be significantly broadened in the near future. Good-quality counselling is the cornerstone of informed consent...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363670
EISBN: 978-3-318-02559-0
... of sex development (DSD) are rare and heterogeneous conditions that can be isolated diseases or be part of more complex disorders. Their phenotypic appearance and timing of presentation are quite variable. A wide array of genes has been found to cause DSD, and recent years have witnessed many advances...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363636
EISBN: 978-3-318-02559-0
... Abstract All communication with children and adolescents with disorders of sex development (DSD) must be age appropriate and tailored to their developmental levels and needs. Communication is as much about information concerning the DSD as it is about listening to the individual's thoughts...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363640
EISBN: 978-3-318-02559-0
... Abstract People with disorders of sex development (DSD) may have impaired sex steroid production or their gonads removed before, during or after adolescence, thus requiring hormone replacement therapy (HRT) to induce puberty and/or maintain secondary sexual characteristics, to optimize bone...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363639
EISBN: 978-3-318-02559-0
... Abstract When a human being born with any disorder/difference of sex development (DSD) reaches adulthood, the experience lived may be quite varied, depending partly on the age at diagnosis, the underlying cause, physical and health involvement, family circle, health system care received...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363642
EISBN: 978-3-318-02559-0
... Abstract The risk of germ cell cancer (GCC) is elevated in many disorders of sex development (DSD) patients, although not to the same extent. A number of risk factors have been identified recently, but their interplay and relative impact is currently not fully clear. This paper offers guidance...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363665
EISBN: 978-3-318-02559-0
... Abstract The role of feminising surgery in disorders of sex development (DSD) has been a topic of intense discussion for many years. The controversy mainly focuses on the timing of surgery: early (in childhood) or delayed (in adolescence), with clinicians divided in opinion. This conflict...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363615
EISBN: 978-3-318-02559-0
... development (DSD). Knowledge of the genetic pathways involved in ovary or testis development is incomplete and, currently, a molecular diagnosis is made in a minority of DSD cases. Here, we review the different NGS strategies applied to the analysis of rare diseases and highlight the potential pitfalls...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
EISBN: 978-3-318-02559-0
... Consensus Group/ESPE Consensus Group: Consensus statement on management of intersex disorders. J Pediatric Urol 2006;2:148-162. 4. Pasterski V, Prentice P, Hughes IA: Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe. Arch Dis Child 2010;95:618-623...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363664
EISBN: 978-3-318-02559-0
... to patients with congenital adrenal hyperplasia (CAH). CAH is an autosomal recessive disease with an incidence of 1:15,000 live births. This represents the largest subgroup of individuals with 46,XX disorders of sex development (DSD). The cause lies in a malfunctioning of the glucocorticoid synthesis...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
EISBN: 978-3-318-02559-0
...References References 1. Streuli JC, Köhler B, Werner-Rosen K, Mitchell C: DSD and professionalism from a multilateral view: supplementing the consensus statement on the basis of a qualitative survey. Adv Urol 2012;12:185787. 2. Moran ME, Karkazis K: Developing a multidisciplinary team...