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Quoted phrase not found in phrase index: "Sex chromosome disorder of sex development"
Page 1
Disorders of sex development.
Witchel SF. Witchel SF. Best Pract Res Clin Obstet Gynaecol. 2018 Apr;48:90-102. doi: 10.1016/j.bpobgyn.2017.11.005. Epub 2017 Nov 22. Best Pract Res Clin Obstet Gynaecol. 2018. PMID: 29503125 Free PMC article. Review.
These disorders are generally attributed to deviations from the typical progression of sex development. Disorders of sex development can be classified into several categories including chromosomal, gonadal, and anatomic abnormalities. ...
These disorders are generally attributed to deviations from the typical progression of sex development. Disorders
Genetic control of typical and atypical sex development.
Reyes AP, León NY, Frost ER, Harley VR. Reyes AP, et al. Nat Rev Urol. 2023 Jul;20(7):434-451. doi: 10.1038/s41585-023-00754-x. Epub 2023 Apr 5. Nat Rev Urol. 2023. PMID: 37020056 Review.
Differences in sex development (DSD) arise from congenital alterations during any of these processes, and are classified depending on sex chromosomal constitution as sex chromosome DSD, 46,XY DSD or 46,XX DSD. Understanding the genetics and embr …
Differences in sex development (DSD) arise from congenital alterations during any of these processes, and are classified depen …
Novel insights in Turner syndrome.
Aly J, Kruszka P. Aly J, et al. Curr Opin Pediatr. 2022 Aug 1;34(4):447-460. doi: 10.1097/MOP.0000000000001135. Epub 2022 Jul 5. Curr Opin Pediatr. 2022. PMID: 35796656 Review.
PURPOSE OF REVIEW: Turner syndrome is the most common sex chromosome abnormality in female individuals, affecting 1/2000-1/2500 female newborns. Despite the high incidence of this condition, the mechanisms underlying the development of multiorgan dysfunction …
PURPOSE OF REVIEW: Turner syndrome is the most common sex chromosome abnormality in female individuals, affecting 1/2000-1/250 …
Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care.
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium. Lee PA, et al. Horm Res Paediatr. 2016;85(3):158-80. doi: 10.1159/000442975. Epub 2016 Jan 28. Horm Res Paediatr. 2016. PMID: 26820577 Free article. Review.
The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. ...Topics include biochemic …
The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to addr …
Tall stature in children and adolescents.
Urakami T. Urakami T. Minerva Pediatr. 2020 Dec;72(6):472-483. doi: 10.23736/S0026-4946.20.05971-X. Epub 2020 Aug 4. Minerva Pediatr. 2020. PMID: 32748612 Review.
Tall stature by itself is not a pathological condition, however, there are a number of disorders associated with tall stature. Some genetic disorders and syndromes may be associated with mental retardation and various complications. Therefore, recognition of tall st …
Tall stature by itself is not a pathological condition, however, there are a number of disorders associated with tall stature. Some g …
Current clinical management of constitutional delay of growth and puberty.
Gaudino R, De Filippo G, Bozzola E, Gasparri M, Bozzola M, Villani A, Radetti G. Gaudino R, et al. Ital J Pediatr. 2022 Mar 24;48(1):45. doi: 10.1186/s13052-022-01242-5. Ital J Pediatr. 2022. PMID: 35331309 Free PMC article. Review.
CONCLUSION: Even if CDGP is considered a variant of normal growth rather than a disease, short stature and retarded sexual development may led to psychological problems, sometimes associated to a poor academic performance. ...
CONCLUSION: Even if CDGP is considered a variant of normal growth rather than a disease, short stature and retarded sexual develop
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. Tartaglia N, et al. Acta Paediatr. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Epub 2011 Apr 8. Acta Paediatr. 2011. PMID: 21342258 Free PMC article. Review.
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. ...While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are co
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. ...While the spectrum of cognitive
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F; European Academy of Andrology; European Molecular Genetics Quality Network. Krausz C, et al. Andrology. 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x. Andrology. 2014. PMID: 24357628 Free PMC article. Review.
The present revision of the 2004 laboratory guidelines summarizes all the clinical novelties related to the Y chromosome (classic, partial and gene-specific deletions, genotype-phenotype correlations, methodological issues) and provides an update on the results of the qual …
The present revision of the 2004 laboratory guidelines summarizes all the clinical novelties related to the Y chromosome (classic, pa …
Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): A systematic review and meta-analysis.
Babu R, Shah U. Babu R, et al. J Pediatr Urol. 2021 Feb;17(1):39-47. doi: 10.1016/j.jpurol.2020.11.017. Epub 2020 Nov 12. J Pediatr Urol. 2021. PMID: 33246831 Review.
Gender assignment in infants born with a difference in sexual development (DSD) remains one of the many difficult decisions faced by the multi-disciplinary treatment team as some of these children develop gender identity disorder (GID) when they become adults …
Gender assignment in infants born with a difference in sexual development (DSD) remains one of the many difficult decisions fa …
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023.
Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F. Krausz C, et al. Andrology. 2024 Mar;12(3):487-504. doi: 10.1111/andr.13514. Epub 2023 Sep 6. Andrology. 2024. PMID: 37674303 Review.
Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men. ...
Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and sev …
1,171 results