Puesta al día | 19 JUL 21

El neonato con genitales ambiguos

Actualización sobre patogenia, clínica y manejo del neonato con genitales ambiguos
Autor/a: Brian R. Lee, Katie M. Strobel, Alison Chu NeoReviews 2021;22;e241
INDICE:  1. Texto principal | 2. Referencias bibliográficas
Referencias bibliográficas

1. Aydin BK, Saka N, Bas F, et al. Frequency of ambiguous genitalia in 14,177 newborns in Turkey. J Endocr Soc. 2019;3(6):1185–1195

2. Thyen U, Lanz K, Holterhus PM, Hiort O. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res. 2006;66(4):195–203

3. Lee PA, Houk CP, Ahmed SF, Hughes IA; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. Pediatrics. 2006;118(2):e488–e500

4. Meyer-Bahlburg HF. Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav. 2005;34(4):423–438

5. Arnold AP. A general theory of sexual differentiation. J Neurosci Res. 2017;95(1-2):291–300

6. Migeon CJ, Wisniewski AB. Human sex differentiation: from transcription factors to gender. Horm Res. 2000;53(3):111–119

7. Grinspon RP, Rey RA. When hormone defects cannot explain it: malformative disorders of sex development. Birth Defects Res C Embryo Today. 2014;102(4):359–373

8. Krishnan S, Meyer J, Khattab A. Ambiguous genitalia in the newborn. EndoText [Internet]. Available at: https://www.ncbi.nlm.nih.gov/books/NBK279168/. Accessed January 12, 2021

9. Wherrett DK. Approach to the infant with a suspected disorder of sex development. Pediatr Clin North Am. 2015;62(4):983–999

10. Çetinkaya M, Özen S, Uslu S, et al. Diagnostic and therapeutic approach in newborns with ambiguous genitale with disorder of sex development: consensus report of Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies. Turk Pediatri Ars. 2018;53(suppl 1):S198–S208

11. Bashamboo A, Eozenou C, Rojo S, Mc Elreavey K. Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development. Clin Genet. 2017;91(2):143–156

12. Miller WL. Mechanisms in endocrinology: rare defects in adrenal steroidogenesis. Eur J Endocrinol. 2018;179(3):R125–R141

13. Burkhard FZ, Parween S, Udhane SS, Flück CE, Pandey AV. P450 Oxidoreductase deficiency: analysis of mutations and polymorphisms. J Steroid Biochem Mol Biol. 2017;165 (pt A):38–50

14. Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA. Androgen insensitivity syndrome. Best Pract Res Clin Endocrinol Metab. 2015;29(4):569–580

15. Eid W, Biason-Lauber A. Why boys will be boys and girls will be girls: human sex development and its defects. Birth Defects Res C Embryo Today. 2016;108(4):365–379

16. Bouayed Abdelmoula N, Portnoi MF, Keskes L, et al. Skewed X chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature. Ann Genet. 2003;46(1):11–18

17. Martin R, Fanaroff A, Walsh M, eds. Fanaroff & Martin’s Neonatal-Perinatal Medicine: Diseases of the Fetus and Infant. 11th ed. Philadelphia, PA: Elsevier; 2020

18. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. [published correction appears in Lancet. 2017 Nov 11;390 (10108): 2142] Lancet. 2017; 390 (10108): 2194–2210

19. Hirvikoski T, Nordenström A, Lindholm T, et al. Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone. J Clin Endocrinol Metab. 2007;92(2):542–548



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