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Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants. [PDF]
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Pediatric Care Online, 2022
Key Points Disorders of sex development (DSDs) are congenital conditions in which development of chromosomal, gonadal, or anatomical (genital) sex is atypical for that expected for a male or female.Most DSDs are caused by genetic mutations in hormone metabolism or action or in gonadal development.The evaluation for a suspected DSD in the
Neetu Kumar, Abraham Cherian
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Key Points Disorders of sex development (DSDs) are congenital conditions in which development of chromosomal, gonadal, or anatomical (genital) sex is atypical for that expected for a male or female.Most DSDs are caused by genetic mutations in hormone metabolism or action or in gonadal development.The evaluation for a suspected DSD in the
Neetu Kumar, Abraham Cherian
openaire +2 more sources
Seminars in Fetal and Neonatal Medicine, 2011
Infants born with ambiguous genitalia represent a complex clinical challenge. A systematic clinical investigation aims at determining the hormone production and which anatomical structures are present in order to understand at what level the sex differentiation has been affected; chromosomal, gonadal or hormonal synthesis and action levels.
M, Barbaro, A, Wedell, A, Nordenström
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Infants born with ambiguous genitalia represent a complex clinical challenge. A systematic clinical investigation aims at determining the hormone production and which anatomical structures are present in order to understand at what level the sex differentiation has been affected; chromosomal, gonadal or hormonal synthesis and action levels.
M, Barbaro, A, Wedell, A, Nordenström
+5 more sources
Surgery (Oxford), 2010
The contribution of imaging in disorders of sex development is not confined to the diagnosis of the underlying condition. Imaging has an important role in assisting pre-operative planning where surgery is contemplated, in identifying the location of occult gonads and in assessment of suspected complications of these conditions, including malignant ...
Justin H. Davies +2 more
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The contribution of imaging in disorders of sex development is not confined to the diagnosis of the underlying condition. Imaging has an important role in assisting pre-operative planning where surgery is contemplated, in identifying the location of occult gonads and in assessment of suspected complications of these conditions, including malignant ...
Justin H. Davies +2 more
+6 more sources
Journal of Pediatric Endocrinology and Metabolism, 2017
The aetiology of disorders of sex development (DSD) is multifactorial and includes chromosomal defects, developmental abnormalities of the gonads, and defects of hormonal synthesis and expression. Infants born with ambiguous genitalia require urgent investigation because of the risk of hyponatraemia associated with congenital adrenal hyperplasia (CAH ...
Wieland, Kiess +3 more
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The aetiology of disorders of sex development (DSD) is multifactorial and includes chromosomal defects, developmental abnormalities of the gonads, and defects of hormonal synthesis and expression. Infants born with ambiguous genitalia require urgent investigation because of the risk of hyponatraemia associated with congenital adrenal hyperplasia (CAH ...
Wieland, Kiess +3 more
openaire +3 more sources
Surgery (Oxford), 2016
A 20-year-old individual presented with poor development of secondary sexual characteristics and primary amenorrhea. She was born of a non-consanguineous marriage at term by vaginal delivery at home without any perinatal complications and was assigned female gender.
Lindsey A. Loomba-Albrecht +1 more
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A 20-year-old individual presented with poor development of secondary sexual characteristics and primary amenorrhea. She was born of a non-consanguineous marriage at term by vaginal delivery at home without any perinatal complications and was assigned female gender.
Lindsey A. Loomba-Albrecht +1 more
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Current Opinion in Obstetrics & Gynecology, 2007
The current management of patients with intersex, now designated as disorders of sex development, is presented in the context of updated etiological and outcome data, refined surgical procedures and the need for a multidisciplinary approach.The recently published consensus statement, the primary publication cited herein, includes known genetic causes ...
Zeina M, Nabhan, Peter A, Lee
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The current management of patients with intersex, now designated as disorders of sex development, is presented in the context of updated etiological and outcome data, refined surgical procedures and the need for a multidisciplinary approach.The recently published consensus statement, the primary publication cited herein, includes known genetic causes ...
Zeina M, Nabhan, Peter A, Lee
openaire +2 more sources