Keywords
Disorders of sex development
newborn
congenital adrenal hyperplasia
true hermaphroditism
gonadal dysgenesis
newborn
congenital adrenal hyperplasia
true hermaphroditism
gonadal dysgenesis
How to Cite
Acosta-Rodríguez, A. L., & Mendoza-Rojas, V. C. (2019). Newborn approach with disorders of sexual development. Salud UIS, 51(4), 337–346. https://doi.org/10.18273/revsal.v51n4-2019007
Abstract
Introduction: Disorder of sexual development in newborn is not an infrequent condition during medical practice, but it does prove to be a challenge both in diagnostic and in therapeutic approaches. It is defined as the set of conditions in which the development of chromosomal, gonadal or anatomical sex is atypical. Objectives: To carry out a comprehensive approach to sexual development alterations and to recognize the importance of transdisciplinary teams for the management of this pathology. Methodology: A search of review literature was made with the key words Disorders of sex development, Ovotesticular disorders of sex development, true hermaphroditism, gonadal dysgenesis, and congenital adrenal hyperplasia in five biomedical databases. The search has been limited to Spanish or English language articles of the last 10 years. Results: 110 articles were reviewed, of which 36 were included, they were original articles, case presentations, consensus and review articles. Conclusions: In order to avoid complications in newborn, health personnel should be sensitized, regarding this condition is essential to timely diagnosis and treatment. Assignment of sex is one of the most relevant problems for the management of this condition; this decision must be made by a transdisciplinary team of specialists with experience in the subject where a detailed and individual evaluation of each case is carried out.
References
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3. Wherrett DK. Approach to the Infant with a suspected disorder of sex development. Pediatr Clin North Am. 2015; 62(4): 983-999. doi: 10.1016/j. pcl.2015.04.011.
4. Muller CO, Paye-Jaouen A. El Ghoneimi A. Cirugía de la criptorquidia. EMC – Urología. 2012; 44(3): 1-9. doi: https://doi.org/10.1016/S1761- 3310(12)62745-5.
5. Springer A, van den Heijkant M, Baumann S. Worldwide prevalence of hypospadias. J Pediatr Urol. 2016;12(3): 152.e1-7.doi: 10.1016/j. jpurol.2015.12.002.
6. Bergman J, Loane M, Vrijheid M, Pierini A, Nijman R, Addor M, et al. Epidemiology of hypospadias in Europe: a registry-based study. World J Urol. 2015; 33(12): 2159-2167. doi: 10.1007/ s00345-015-1507-6.
7. Mendoza-Rojas VC, Díaz-Martínez LA, Mantilla- Mora G, Contreras-García GA, Mora-Bautista VM, Martínez-Paredes JF, et al. 17-hydroxiprogesterone values in healthypreterminfants. Colomb Med (Cali). 2017; 48(4): 161-166. doi: 10.25100/cm.v43i4.2983.
8. Guerrero-Fernández J, Azcona San Julián C, Barreiro Conde J, Bermúdez de la Vega JA, Carcavilla Urquí A, Castaño_ _González LA, et al. Guía de actuación en las anomalías de la diferenciación sexual (ADS)/ desarrollo sexual diferente (DSD). AnPediatr. 2018; 89: 315.e1315-e19. doi: https://doi.org/10.1016/j. anpedi.2018.06.009.
9. Nistal M, Paniagua R, González-Peramato P, Reyes- Múgica M. Perspectives in pediatric pathology, chapter 1. normal development of testicular structures: from the bipotential gonad to the fetal testis. Pediatr Dev Pathol. 2015; 18(2): 88-102.doi: 10.2350/12-04-1184-PB.1.
10. Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, et al. Caring for individuals with a difference of sex development (DSD): A Consensus Statement. Nat Rev Endocrinol. 2018; 14: 415-429. doi: 10.1038/s41574-018-0010-8.
11. Pasterski V, Prentice P, Hughes IA. Impact of the consensus statement and the new DSD classification system. Best Pract Res Clin Endocrinol Metab. 2010; 24(2):187-195. doi: 10.1016/j.beem.2009.11.004.
12. Pasterski V, Prentice P, Hughes IA. Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe. Arch Dis Child 2010; 95(8): 618-623. doi: 10.1136/ adc.2009.163840.
13. Dar S, Nazir M, Lone R, Sameen D, Ahmad I, Wani WA, et al. Clinical spectrum of disorders of sex development: A cross-sectional observational study. Indian J EndocrMetab. 2018; 22(6): 774-779. doi: 10.4103/ijem.IJEM_159_18.
14. Walia R, Singla M, Vaiphei K, Kumar S, Bhansali A. Disorders of sex development: A study of 194 cases. Endocr Connect. 2018; 7(2): 364-371.
15. KershenovichSefchovich R, Landa Juárez S, Tavera Hernández M, Gutiérrez Suárez R. Desorden de diferenciación sexual ovotesticular. AnMed (Mex) 2018; 63(3): 207-212.
16. Lee P, Nordenström A, Houk C, Ahmed S, Auchus R, Baratz A, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016; 85(3): 158-180. doi: 10.1159/000442975.
17. Parsa A, New M. Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. J Steroid Biochem Mol Biol. 2017; 165(Pt A): 2-11. doi: 10.1016/j. jsbmb.2016.06.015.
18. Coto Rodeiro R, Varona Sánchez J, Borrego López J, Formoso Martín L. Resultados de la pesquisa de hiperplasia adrenal congénita en recién nacidos. Rev Cubana Obstet Ginecol. 2011; 37(2): 136-146.
19. Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M. Perspectives in pediatric pathology, chapter 7. Ovotesticular DSD (True Hermaphroditism). Pediatr Dev Pathol. 2015;18(5): 345-352. doi: 10.2350/14-04-1466-PB.1.
20. Kun Suk Kim, Jongwon Kim. Disorders of Sex Development. Korean J Urol 2012;53(1):1-8. doi: 10.4111/kju.2012.53.1.1.
21. Rodriguez-Buritica D. Overview of genetics of disorders of sexual development. CurrOpinPediatr. 2015; 27(6): 675-684. doi: 10.1097/ MOP.0000000000000275.
22. Simpson JL. Disorders of the Gonads, Genital Tract, and Genitalia. Emery and Rimoin’s Principles and Practice of Medical Genetics 6th edition. 2013; 1-45.
23. Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J. Androgen insensitivity syndrome. Lancet. 2012; 380(9851): 1419-1428. doi: https://doi.org/10.1016/S0140- 6736(12)60071-3.
24. Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017; 102(10): 968- 974.doi: 10.1136/archdischild-2016-311270.
25. Audí L, Camats N, Fernández-Cancio M, Granada M. L. Development of laboratory investigations in disorders of sex development. Sex Dev. 2017;12(1- 3): 7-18. doi: 10.1159/000479719.
26. Freire AV, Grinspon RP, Rey RA. Importance of serum testicular protein hormone measurement in the assessment of disorders of sex development. Sex Dev. 2017; 12(1-3), 30-40. doi: 10.1159/000479572.
27. Bertelloni S, Russo G, Baroncelli GI.Human chorionic gonadotropin test: old uncertainties, new perspectives, and value in 46, XY disorders of sex development. Sex Dev. 2018;12(1-3): 41-49. doi: 10.1159/000481552.
28. Guerra-Junior G, Andrade KC, Barcelos IHK, Maciel-Guerra AT. Imaging techniques in the diagnostic journey of disorders of sex development. Sex Dev 2018;12(1-3):95-99doi: 10.1159/000479453.
29. Tafazzoli K, Wünsch L, Bouteleux M, Lindert J, Schulz T, Birnbaum W, et al. Endoscopy and laparoscopy in disorders of sex development. Sex Dev. 2018; 12(1-3): 100-105. doi: 10.1159/000486871.
30. Speiser P, Azziz R, Baskin L, Ghizzoni L, Hensle T, Merke D, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2010; 95(9): 4133-4160. doi: 10.1210/ jc.2009-2631.
31. Spoor JA, Oosterhuis JW, Hersmus R, Biermann K, WolffenbuttelP, Cools M, et al. Histological Assessment of Gonads in DSD: Relevance for Clinical Management. Sex Dev. 2018; 12(1-3): 106- 122. doi: 10.1159/000481757.
32. Roen K, Pasterski V. Psychological research and intersex/DSD: recent developments and future directions. Psychol Sex. 2013; 5(1): 102-116. doi: 10.1080/19419899.2013.831218.
33. Ediati A, Verrips GHW, Juniarto AZ, Faradz SMH, Drop SLS, Dessens AB. Quality of life in late-treated patients with disorders of sex development: insights for patient-centered care. Front Pediatr. 2019; 6(434). doi: 10.3389/fped.2018.00434.
34. D’Alberton F, Vissani S, Ferracuti C, Pasterski V. Methodological issues for psychological evaluation across the lifespan of individuals with a difference/ disorder of sex development. Sex Dev. 2018; 12(1-3): 123-134. doi: 10.1159/000484189.
35. EhrenfeldLenkiewicz N, Pérez Niño JF, Avella Mariño NI. De genitales a géneros e intersexualidad: trastornos de la diferenciación sexual, un ámbito sociomédico. Urol Colombiana. 2017; 26(1): 1-7. doi: 10.1016/j.uroco.2017.02.002.
2. Lee P, Houk C, Ahmed S, Hughes I, Hughes IA, International Consensus Conference on intersex organized by the Lawson Wilkins pediatric endocrine society and the European society for pediatric endocrinology.Consensus statement on management of intersex disorders. Pediatrics. International consensus conference or intersex. 2006; 118(2): e488-500. doi: 10.1542/peds.2006- 0738.
3. Wherrett DK. Approach to the Infant with a suspected disorder of sex development. Pediatr Clin North Am. 2015; 62(4): 983-999. doi: 10.1016/j. pcl.2015.04.011.
4. Muller CO, Paye-Jaouen A. El Ghoneimi A. Cirugía de la criptorquidia. EMC – Urología. 2012; 44(3): 1-9. doi: https://doi.org/10.1016/S1761- 3310(12)62745-5.
5. Springer A, van den Heijkant M, Baumann S. Worldwide prevalence of hypospadias. J Pediatr Urol. 2016;12(3): 152.e1-7.doi: 10.1016/j. jpurol.2015.12.002.
6. Bergman J, Loane M, Vrijheid M, Pierini A, Nijman R, Addor M, et al. Epidemiology of hypospadias in Europe: a registry-based study. World J Urol. 2015; 33(12): 2159-2167. doi: 10.1007/ s00345-015-1507-6.
7. Mendoza-Rojas VC, Díaz-Martínez LA, Mantilla- Mora G, Contreras-García GA, Mora-Bautista VM, Martínez-Paredes JF, et al. 17-hydroxiprogesterone values in healthypreterminfants. Colomb Med (Cali). 2017; 48(4): 161-166. doi: 10.25100/cm.v43i4.2983.
8. Guerrero-Fernández J, Azcona San Julián C, Barreiro Conde J, Bermúdez de la Vega JA, Carcavilla Urquí A, Castaño_ _González LA, et al. Guía de actuación en las anomalías de la diferenciación sexual (ADS)/ desarrollo sexual diferente (DSD). AnPediatr. 2018; 89: 315.e1315-e19. doi: https://doi.org/10.1016/j. anpedi.2018.06.009.
9. Nistal M, Paniagua R, González-Peramato P, Reyes- Múgica M. Perspectives in pediatric pathology, chapter 1. normal development of testicular structures: from the bipotential gonad to the fetal testis. Pediatr Dev Pathol. 2015; 18(2): 88-102.doi: 10.2350/12-04-1184-PB.1.
10. Cools M, Nordenström A, Robeva R, Hall J, Westerveld P, Flück C, et al. Caring for individuals with a difference of sex development (DSD): A Consensus Statement. Nat Rev Endocrinol. 2018; 14: 415-429. doi: 10.1038/s41574-018-0010-8.
11. Pasterski V, Prentice P, Hughes IA. Impact of the consensus statement and the new DSD classification system. Best Pract Res Clin Endocrinol Metab. 2010; 24(2):187-195. doi: 10.1016/j.beem.2009.11.004.
12. Pasterski V, Prentice P, Hughes IA. Consequences of the Chicago consensus on disorders of sex development (DSD): current practices in Europe. Arch Dis Child 2010; 95(8): 618-623. doi: 10.1136/ adc.2009.163840.
13. Dar S, Nazir M, Lone R, Sameen D, Ahmad I, Wani WA, et al. Clinical spectrum of disorders of sex development: A cross-sectional observational study. Indian J EndocrMetab. 2018; 22(6): 774-779. doi: 10.4103/ijem.IJEM_159_18.
14. Walia R, Singla M, Vaiphei K, Kumar S, Bhansali A. Disorders of sex development: A study of 194 cases. Endocr Connect. 2018; 7(2): 364-371.
15. KershenovichSefchovich R, Landa Juárez S, Tavera Hernández M, Gutiérrez Suárez R. Desorden de diferenciación sexual ovotesticular. AnMed (Mex) 2018; 63(3): 207-212.
16. Lee P, Nordenström A, Houk C, Ahmed S, Auchus R, Baratz A, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016; 85(3): 158-180. doi: 10.1159/000442975.
17. Parsa A, New M. Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. J Steroid Biochem Mol Biol. 2017; 165(Pt A): 2-11. doi: 10.1016/j. jsbmb.2016.06.015.
18. Coto Rodeiro R, Varona Sánchez J, Borrego López J, Formoso Martín L. Resultados de la pesquisa de hiperplasia adrenal congénita en recién nacidos. Rev Cubana Obstet Ginecol. 2011; 37(2): 136-146.
19. Nistal M, Paniagua R, González-Peramato P, Reyes-Múgica M. Perspectives in pediatric pathology, chapter 7. Ovotesticular DSD (True Hermaphroditism). Pediatr Dev Pathol. 2015;18(5): 345-352. doi: 10.2350/14-04-1466-PB.1.
20. Kun Suk Kim, Jongwon Kim. Disorders of Sex Development. Korean J Urol 2012;53(1):1-8. doi: 10.4111/kju.2012.53.1.1.
21. Rodriguez-Buritica D. Overview of genetics of disorders of sexual development. CurrOpinPediatr. 2015; 27(6): 675-684. doi: 10.1097/ MOP.0000000000000275.
22. Simpson JL. Disorders of the Gonads, Genital Tract, and Genitalia. Emery and Rimoin’s Principles and Practice of Medical Genetics 6th edition. 2013; 1-45.
23. Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J. Androgen insensitivity syndrome. Lancet. 2012; 380(9851): 1419-1428. doi: https://doi.org/10.1016/S0140- 6736(12)60071-3.
24. Davies JH, Cheetham T. Recognition and assessment of atypical and ambiguous genitalia in the newborn. Arch Dis Child. 2017; 102(10): 968- 974.doi: 10.1136/archdischild-2016-311270.
25. Audí L, Camats N, Fernández-Cancio M, Granada M. L. Development of laboratory investigations in disorders of sex development. Sex Dev. 2017;12(1- 3): 7-18. doi: 10.1159/000479719.
26. Freire AV, Grinspon RP, Rey RA. Importance of serum testicular protein hormone measurement in the assessment of disorders of sex development. Sex Dev. 2017; 12(1-3), 30-40. doi: 10.1159/000479572.
27. Bertelloni S, Russo G, Baroncelli GI.Human chorionic gonadotropin test: old uncertainties, new perspectives, and value in 46, XY disorders of sex development. Sex Dev. 2018;12(1-3): 41-49. doi: 10.1159/000481552.
28. Guerra-Junior G, Andrade KC, Barcelos IHK, Maciel-Guerra AT. Imaging techniques in the diagnostic journey of disorders of sex development. Sex Dev 2018;12(1-3):95-99doi: 10.1159/000479453.
29. Tafazzoli K, Wünsch L, Bouteleux M, Lindert J, Schulz T, Birnbaum W, et al. Endoscopy and laparoscopy in disorders of sex development. Sex Dev. 2018; 12(1-3): 100-105. doi: 10.1159/000486871.
30. Speiser P, Azziz R, Baskin L, Ghizzoni L, Hensle T, Merke D, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2010; 95(9): 4133-4160. doi: 10.1210/ jc.2009-2631.
31. Spoor JA, Oosterhuis JW, Hersmus R, Biermann K, WolffenbuttelP, Cools M, et al. Histological Assessment of Gonads in DSD: Relevance for Clinical Management. Sex Dev. 2018; 12(1-3): 106- 122. doi: 10.1159/000481757.
32. Roen K, Pasterski V. Psychological research and intersex/DSD: recent developments and future directions. Psychol Sex. 2013; 5(1): 102-116. doi: 10.1080/19419899.2013.831218.
33. Ediati A, Verrips GHW, Juniarto AZ, Faradz SMH, Drop SLS, Dessens AB. Quality of life in late-treated patients with disorders of sex development: insights for patient-centered care. Front Pediatr. 2019; 6(434). doi: 10.3389/fped.2018.00434.
34. D’Alberton F, Vissani S, Ferracuti C, Pasterski V. Methodological issues for psychological evaluation across the lifespan of individuals with a difference/ disorder of sex development. Sex Dev. 2018; 12(1-3): 123-134. doi: 10.1159/000484189.
35. EhrenfeldLenkiewicz N, Pérez Niño JF, Avella Mariño NI. De genitales a géneros e intersexualidad: trastornos de la diferenciación sexual, un ámbito sociomédico. Urol Colombiana. 2017; 26(1): 1-7. doi: 10.1016/j.uroco.2017.02.002.
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