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Disorders of sex development [PDF]
Best Practice and Research in Clinical Obstetrics and Gynaecology, 2018 Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of
Selma Feldman Witchel
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Pediatrics In Review, 2021
1. Alejandro Diaz, MD*,† 2. Elizabeth G. Lipman Diaz, PhD, ARNP, CPNP‡ 1. *Nicklaus Children’s Hospital, Miami, FL 2. †Herbert Wertheim College of Medicine, Florida International University, Miami, FL 3. ‡University of Miami School of Nursing and Health Studies, Coral Gables, FL * Abbreviations: AMH: : anti-mullerian hormone
Alejandro, Diaz +1 more
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1. Alejandro Diaz, MD*,† 2. Elizabeth G. Lipman Diaz, PhD, ARNP, CPNP‡ 1. *Nicklaus Children’s Hospital, Miami, FL 2. †Herbert Wertheim College of Medicine, Florida International University, Miami, FL 3. ‡University of Miami School of Nursing and Health Studies, Coral Gables, FL * Abbreviations: AMH: : anti-mullerian hormone
Alejandro, Diaz +1 more
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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
+5 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
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
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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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Pediatric disorders of sex development
The Indian Journal of Pediatrics, 2009The management of disorders of sexual differentiation (DSD) involves a multidisciplinary approach. The main aim of analysis was to study the phenotype-karyotype correlation in North Indian children with DSD. The records of pediatric DSD were retrieved and characteristics noted. Of total of 58 children, 43 (74.1%) and 10 (17.2%) were raised as males and
Ketan Prasad, Kulkarni +4 more
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Management of disorders of sex development
Nature Reviews Endocrinology, 2014The medical term disorders of sex development (DSDs) is used to describe individuals with an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to differences in the development of the urogenital tract and reproductive system.
Olaf, Hiort +7 more
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Update on disorders of sex development
Current Opinion in Endocrinology, Diabetes & Obesity, 2012To review the recent information regarding disorders of sex development (DSD) which contribute to, as well as highlight, the need for greater understanding of genetic mutations and the dire need for specific outcome information.New information is primarily related to the identification of genetic mutations and other gene variations that impact ...
Christopher P, Houk, Peter A, Lee
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