The Experts below are selected from a list of 315 Experts worldwide ranked by ideXlab platform
Poli Mara Spritzer - One of the best experts on this subject based on the ideXlab platform.
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Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants.
BMC pediatrics, 2017Co-Authors: Cristiane Kopacek, Simone Martins De Castro, Mayara Jorgens Prado, Cláudia Maria Dornelles Da Silva, Luciana Amorim Beltrao, Poli Mara SpritzerAbstract:Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct Sex Assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil.
William G. Reiner - One of the best experts on this subject based on the ideXlab platform.
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Gender identity and Sex Assignment: a reappraisal for the 21st century.
Advances in experimental medicine and biology, 2002Co-Authors: William G. ReinerAbstract:Identity is the core of human existence. This existential reality manifests itself in the human as a species-specific evolutionary focal point. It appears that no other earthly species abstractly contemplates its very nature. This is as important for a discussion of identity in general as it is for the concept of gender identity.
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Assignment of Sex in neonates with ambiguous genitalia
Current Opinion in Pediatrics, 1999Co-Authors: William G. ReinerAbstract:Sex Assignment in the newborn with ambiguous genitalia has been based on the adequacy of the phallus in the male, potential fertility in the female, and cosmetic appearance of the reconstructed genitalia. Recent data from both the neuro-sciences and from clinical research, however, casts doubt on th
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Assignment of Sex in neonates with ambiguous genitalia.
Current opinion in pediatrics, 1999Co-Authors: William G. ReinerAbstract:Sex Assignment in the newborn with ambiguous genitalia has been based on the adequacy of the phallus in the male, potential fertility in the female, and cosmetic appearance of the reconstructed genitalia. Recent data from both the neurosciences and from clinical research, however, casts doubt on the validity of such criteria for clinical decision making. Current knowledge suggests a need to shift away from the current clinical approach and to incorporate these new data into decisions based on a broader understanding of the etiology of gender identity. Recognition of the primacy of psychosocial and psychoSexual developmental outcomes for children with ambiguous genitalia is lending direction to longitudinal outcomes research. New approaches to Sex Assignment have been suggested, and the paradigm for Sex Assignment in the newborn period is in transition.
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Sex Assignment in the Neonate With InterSex or Inadequate Genitalia
Journal of Urology, 1998Co-Authors: William G. ReinerAbstract:Clinical decisions about the newborn with ambiguous genitalia should not be approached dogmatically. Data on the psychoSexual and psychosocial outcomes of these children are quite simply lacking. Personal experience with 18 children who are 46,XY males with totally inadequate phalluses but normal testes, Sex reassigned to female, demonstrates that parents tend to be uncomfortable with Sex reAssignment and that the children do not behave as typical little girls. InterSexual children present an equally distressing dilemma. Ongoing research should soon add valuable data, 1 which is insufficient at present. Nevertheless, a data-oriented approach is feasible, if necessarily tentative. Assigning a Sex-of-rearing to an interSexual neonate must take 1 of 2 directions: treat or do not treat. Sociocultural norms and family demands are likely to push the parents into a treatment mode of thinking. My data implies that older children and young adolescents want cosmetically "appropriate" genitalia. Recognizing the need for a
Kenichi Kashimada - One of the best experts on this subject based on the ideXlab platform.
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Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study
BMC pediatrics, 2015Co-Authors: Atsumi Tsuji, Kaoru Konishi, Satomi Hasegawa, Akira Anazawa, Toshikazu Onishi, Makoto Ono, Tomohiro Morio, Teruo Kitagawa, Kenichi KashimadaAbstract:Congenital adrenal hyperplasia (CAH) cause life-threatening adrenal crisis. It also affects fetal Sex development and can result in incorrect Sex Assignment at birth. In 1989, a newborn screening program for congenital adrenal hyperplasia (CAH) was introduced in Tokyo. Here we present the results of this screening program in order to clarify the efficiency of CAH screening and the incidence of CAH in Japan.
Laurence B. Mccullough - One of the best experts on this subject based on the ideXlab platform.
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Fluidity models in ancient Greece and current practices of Sex Assignment
Seminars in perinatology, 2017Co-Authors: Min-jye Chen, Bonnie Mccann-crosby, Marni E Axelrad, Sheila K Gunn, Paraskevi Georgiadis, Frank X. Placencia, David E. Mann, Lefkothea Karaviti, Laurence B. McculloughAbstract:Disorders of Sexual differentiation such as androgen insensitivity and gonadal dysgenesis can involve an intrinsic fluidity at different levels, from the anatomical and biological to the social (gender) that must be considered in the context of social constraints. Sex Assignment models based on George Engel's biopsychosocial aspects model of biology accept fluidity of gender as a central concept and therefore help establish expectations within the uncertainty of Sex Assignment and anticipate potential changes. The biology underlying the fluidity inherent to these disorders should be presented to parents at diagnosis, an approach that the gender medicine field should embrace as good practice. Greek mythology provides many accepted archetypes of change, and the ancient Greek appreciation of metamorphosis can be used as context with these patients. Our goal is to inform expertise and optimal approaches, knowing that this fluidity may eventually necessitate Sex reAssignment. Physicians should provide Sex Assignment education based on different components of Sexual differentiation, prepare parents for future hormone-triggered changes in their children, and establish a Sex-Assignment algorithm.
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Assessing Sex Assignment concordance with genotype and phenotype
International journal of pediatric endocrinology, 2013Co-Authors: Deepa Suresh, Jessica Crawford, Marni E Axelrad, Sheila K Gunn, O’brian Smith, Vernon R Sutton, Lefkothea P Karaviti, Laurence B. Mccullough, David R. Roth, Jennifer E DietrichAbstract:To catalogue patients with DSD and to assess the concordance of genotype and phenotype with Sex Assignment at birth compared to Sex Assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions. After obtaining IRB approval, a retrospective chart review was conducted patients seen in the Gender Medicine Clinic (GMC) between 2006–2009 at Texas Children’s Hospital (TCH), Houston, Texas. McNemar’s test and Kappa agreement provided associations of various factors with Sex Assignment at birth prior to GMT assessment and after GMT assessment. Forty-seven patients seen in the GMC with confirmed DSD. Forty-seven patients met the inclusion criteria. The mean age of the patients at the time of GMT evaluation was 9.1+/−6.1 years; 61.7% had male karyotype, and 38.3% had female karyotype; 51.1% had a male external phenotype, 42.6% had a female external phenotype, and 6.4% had phenotypic ambiguity. Sex Assignment was concordant with genotype and phenotype in 63.8% and 86.4%, respectively of cases at the time of birth and in 76.6% and 97.7%, respectively, of cases after assessment by GMT. Long-term outcomes are needed to establish standardized practice guidelines for decision-making.
Marni E Axelrad - One of the best experts on this subject based on the ideXlab platform.
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Fluidity models in ancient Greece and current practices of Sex Assignment
Seminars in perinatology, 2017Co-Authors: Min-jye Chen, Bonnie Mccann-crosby, Marni E Axelrad, Sheila K Gunn, Paraskevi Georgiadis, Frank X. Placencia, David E. Mann, Lefkothea Karaviti, Laurence B. McculloughAbstract:Disorders of Sexual differentiation such as androgen insensitivity and gonadal dysgenesis can involve an intrinsic fluidity at different levels, from the anatomical and biological to the social (gender) that must be considered in the context of social constraints. Sex Assignment models based on George Engel's biopsychosocial aspects model of biology accept fluidity of gender as a central concept and therefore help establish expectations within the uncertainty of Sex Assignment and anticipate potential changes. The biology underlying the fluidity inherent to these disorders should be presented to parents at diagnosis, an approach that the gender medicine field should embrace as good practice. Greek mythology provides many accepted archetypes of change, and the ancient Greek appreciation of metamorphosis can be used as context with these patients. Our goal is to inform expertise and optimal approaches, knowing that this fluidity may eventually necessitate Sex reAssignment. Physicians should provide Sex Assignment education based on different components of Sexual differentiation, prepare parents for future hormone-triggered changes in their children, and establish a Sex-Assignment algorithm.
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Assessing Sex Assignment concordance with genotype and phenotype
International Journal of Pediatric Endocrinology, 2013Co-Authors: Deepa Suresh, Jessica Crawford, Marni E Axelrad, Sheila K Gunn, Laurence Mccullough, O’brian Smith, Vernon R Sutton, David Roth, Lefkothea P Karaviti, Jennifer E DietrichAbstract:Objectives To catalogue patients with DSD and to assess the concordance of genotype and phenotype with Sex Assignment at birth compared to Sex Assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions. Design After obtaining IRB approval, a retrospective chart review was conducted patients seen in the Gender Medicine Clinic (GMC) between 2006–2009 at Texas Children’s Hospital (TCH), Houston, Texas. McNemar’s test and Kappa agreement provided associations of various factors with Sex Assignment at birth prior to GMT assessment and after GMT assessment. Participants Forty-seven patients seen in the GMC with confirmed DSD. Results Forty-seven patients met the inclusion criteria. The mean age of the patients at the time of GMT evaluation was 9.1+/−6.1 years; 61.7% had male karyotype, and 38.3% had female karyotype; 51.1% had a male external phenotype, 42.6% had a female external phenotype, and 6.4% had phenotypic ambiguity. Sex Assignment was concordant with genotype and phenotype in 63.8% and 86.4%, respectively of cases at the time of birth and in 76.6% and 97.7%, respectively, of cases after assessment by GMT. Conclusion Long-term outcomes are needed to establish standardized practice guidelines for decision-making.
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Assessing Sex Assignment concordance with genotype and phenotype
International journal of pediatric endocrinology, 2013Co-Authors: Deepa Suresh, Jessica Crawford, Marni E Axelrad, Sheila K Gunn, O’brian Smith, Vernon R Sutton, Lefkothea P Karaviti, Laurence B. Mccullough, David R. Roth, Jennifer E DietrichAbstract:To catalogue patients with DSD and to assess the concordance of genotype and phenotype with Sex Assignment at birth compared to Sex Assignment before and following assessment by a Gender Medicine Team (GMT) at one institution, as an initial step in formulating standardized guidelines for management of these conditions. After obtaining IRB approval, a retrospective chart review was conducted patients seen in the Gender Medicine Clinic (GMC) between 2006–2009 at Texas Children’s Hospital (TCH), Houston, Texas. McNemar’s test and Kappa agreement provided associations of various factors with Sex Assignment at birth prior to GMT assessment and after GMT assessment. Forty-seven patients seen in the GMC with confirmed DSD. Forty-seven patients met the inclusion criteria. The mean age of the patients at the time of GMT evaluation was 9.1+/−6.1 years; 61.7% had male karyotype, and 38.3% had female karyotype; 51.1% had a male external phenotype, 42.6% had a female external phenotype, and 6.4% had phenotypic ambiguity. Sex Assignment was concordant with genotype and phenotype in 63.8% and 86.4%, respectively of cases at the time of birth and in 76.6% and 97.7%, respectively, of cases after assessment by GMT. Long-term outcomes are needed to establish standardized practice guidelines for decision-making.