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Book Chapter
Published: 17 August 2012
10.1159/000336329
EISBN: 978-3-8055-9930-6
..., and considerations for ambiguous genitalia. References References 1. Jirásek JE: Genital ducts and external genitalia: development and anomalies. Birth Defects Orig Artic Ser 1971;7:131-192 2. Jost A: Basic sexual trends in the development of vertebrates. Ciba Found Symp 1978;5-18 3. Yucel S, Liu W...
Book Chapter
Book Chapter
Book
Series: Monographs in Paediatrics
Volume: 12
Published: 24 March 1981
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
EISBN: 978-3-318-02559-0
... of the external genitalia. Differentiation 2003;71:445-460. 14. Yamada G, et al: Molecular genetic cascades for external genitalia formation: an emerging organogenesis program. Dev Dyn 2006;235:1738-1752. 15. Thankamony A, et al: Anogenital distance from birth to 2 years: a population study. Environ...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363609
EISBN: 978-3-318-02559-0
... Abstract Sexual differentiation is a tightly regulated series of events which transform the indifferent gonads and genitalia into sex-specific structures. This is driven by hormones produced by the fetal testes, primarily testosterone (T). However, masculinization of each structure does...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363664
EISBN: 978-3-318-02559-0
.... The phenotype is influenced by the severity of the enzyme defect, leading to a virilization of the external genitalia in varying degrees. On the other hand, the affected girls are clearly anatomically female with regularly developed female internal genitalia. Female puberty and potential female fertility...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
EISBN: 978-3-318-02559-0
... for ambiguous genitalia: glimpses of practice changes or more of the same? Psychol Sex 2014;5:34-43. 5. Crawford JM, Warne G, Grover S, Southwell BR, Hutson JM: Results from a pediatric surgical centre justify early intervention in disorders of sex development. J Pediatr Surg 2009;44:413-416. 6. van der...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363632
EISBN: 978-3-318-02559-0
... Abstract Imaging of the inner genitalia and the gonads is part of the diagnostic work-up and is essential for an individualized approach to the disorder of sex development individual. Ultrasound is used as a first-line modality to detect the presence of a uterus and gonads. Magnetic resonance...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363633
EISBN: 978-3-318-02559-0
... gonadal dysgenesis refers to the existence of fibrous streaks with no overt formation of seminiferous cords or ovarian follicles. Irrespective of the underlying aetiology (table 1 ), the foetal internal and external genitalia develop following the female pathway. Partial gonadal dysgenesis refers...
Book Chapter
Series: Endocrine Development
Volume: 11
Published: 20 November 2007
10.1159/000111057
EISBN: 978-3-8055-8348-0
... Abstract Ambiguous genitalia, sine qua non, defines a congenital endocrinopathy. The problemis immediately apparent at birth and prompts an urgent response in management whichrequires input from a multi-disciplinary team of experts. Assignment to a male or femalegender is instantaneous when...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363665
EISBN: 978-3-318-02559-0
... controversial is that of the timing of reconstructive genital surgery. Feminising surgery comprises clitoroplasty, labioplasty and vaginoplasty. The Chicago Consensus Statement in 2005 recommended restricting genital surgery to only those girls with severely masculinised external genitalia [ 1 ]. Currently...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
10.1159/000363608
EISBN: 978-3-318-02559-0
... of the SRY gene on the Y chromosome. SRY upregulates the expression of SOX9 that sets into motion a cascade of complex genetic interactions for the formation of male internal and external genitalia whilst repressing the formation of female genitalia. The initiation and maintenance of somatic sex...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
EISBN: 978-3-318-02559-0
...References References 1. Chavhan GB, Parra DA, Oudjhane K, Miller SF, Babyn PS, Pippi Salle JL: Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics 2008;28:1891-1904. 2. Carty H, Brunelle F, Stringer DA, Kao SCS (eds): Imaging Children, ed. 2. London...
Book Chapter
Series: Endocrine Development
Volume: 13
Published: 05 June 2008
10.1159/000134780
EISBN: 978-3-8055-8581-1
... Abstract During embryogenesis, the male external genitalia are formed by the action of the potent androgen,dihydrotestosterone (DHT). DHT is produced in human genital skin and prostate from testosterone viathe action of 5α-reductase type 2. The biological relevance of this pathway to DHT...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
EISBN: 978-3-318-02559-0
... hyperplasia: long-term evaluation of feminizing genitoplasty and psychosocial aspects. Pediatr Surg Int 2006;22:905-909. 10. Lean WL, et al: Cosmetic and anatomic outcomes after feminizing surgery for ambiguous genitalia. J Pediatr Surg 2005;40:1856-1660. 11. Minto CL, et al: The effect of clitoral...
Book Chapter
Published: 17 August 2012
EISBN: 978-3-8055-9930-6
...References References 1. Jirásek JE: Genital ducts and external genitalia: development and anomalies. Birth Defects Orig Artic Ser 1971;7:131-192 2. Jost A: Basic sexual trends in the development of vertebrates. Ciba Found Symp 1978;5-18 3. Yucel S, Liu W, Cordero D, et al: Anatomical...
Book Chapter
Series: Endocrine Development
Volume: 27
Published: 15 September 2014
EISBN: 978-3-318-02559-0
.... Criteria, etiologies and classification. Johns Hopkins Med J 1980;146:156-163. 5. Schonfeld W, Beebe G: Normal growth and variation in male genitalia from birth to maturity. J Urol 1942;64:759-777. 6. Feldman K, Smith D: Fetal phallic growth and penile standards for newborn male infants. J Pediatr...
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: Frontiers of Hormone Research
Volume: 46
Published: 23 May 2016
10.1159/000443919
EISBN: 978-3-318-05840-6
... surgery using modern techniques in females affected with classical CAH continue to be investigated. Prenatal treatment with dexamethasone is available to avoid ambiguous genitalia in these females. Although studies have shown its safety to mother and fetus, prenatal treatment is still regarded...