Is It Beneficial to Patients to Include Congenital Adrenal Hyperplasia (CAH) Among the Disorders of Sex Development (DSD)?

González R, Ludwikowski BM
Frontiers in pediatrics · 2018 · doi:10.3389/fped.2018.00344 · PMID:30483487 · PMC6240692
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The authors argue against classifying congenital adrenal hyperplasia under disorders of sex development, advocating instead for specific diagnoses to ensure timely surgical correction that prevents complications like endometriosis.

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This paper argues against classifying congenital adrenal hyperplasia (CAH) within the broader umbrella term of disorders of sex development (DSD), asserting that such categorization leads to arbitrary guidelines and unproven management protocols. The authors contend that CAH in 46 XX individuals has a well-documented natural history and prognosis, making female gender assignment at birth unquestionable and supporting early surgical correction of the urogenital sinus to prevent complications like hydro-hematocolpos. They criticize recent advocacy-driven moratoriums on genital surgery as lacking scientific evidence and potentially harmful, advocating instead for specific diagnostic labels and established medical and surgical treatments. Relevance to endometriosis: listed as one indication for GnRH antagonists, though the paper's main focus is uterine fibroids.

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References

1. Lang-MuritanoMGersterKSlukaSKonradD. Two siblings with the same severe form of 21-hydroxylase deficiency but different growth and menstrual cycle patterns. Front Pediatr. (2017) 5:35. 10.3389/fped.2017.00035 2. GonzálezRLudwikowskiB. Gender dysphoria in 46,XX persons with adrenogenital syndrome raised as females: an addendum. Front Pediatr. (2015) 2:140. 10.3389/fped.2014.00140 3. GastaudFBouvattierCDuranteauLBraunerRThibaudEKuttenFet al. Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab. (2007) 92:1391–1391. 10.1210/jc.2006-1757 4. SirciliMBachegaTMadureiraGGomesLMendoncaBDénesF. Surgical treatment after failed primary correction of urogenital sinus in female patients with virilizing congenital adrenal hyperplasia: are good results possible?Front Pediatr. (2016) 4:118. 10.3389/fped.2016.00118 5. HughesIHoukCAhmedSLeePLCGECG. Consensus statement on management of intersex disorders. Arch Dis Child. (2006) 91:554–554. 10.1016/j.jpurol.2006.03.004 6. DiamondMGarlandJ. Evidence regarding cosmetic and medically unnecessary surgery on infants. J Pediatr Urol. (2013) 10:2–2. 7. GonzálezRLudwikowskiB. Should CAH in females be classified as DSD?Front Pediatr. (2016) 4:48. 10.3389/fped.2016.00048 8. Lin-SuKLekarevOPoppasD. Congenital adrenal hyperplasia patient perception of “disorders of sex development” nomenclature. Int J Pediatr Endocrinol. (2015) 2015:9. 10.1186/s13633-015-0004-4 9. EthikratD,. Intersex. Opinion. (2012) Available online at: https://www.ethikrat.org/fileadmin/Publikationen/Stellungnahmen/deutsch/DER_StnIntersex_Deu_Online.pdf 10. BinetALardyHGeslinDFrancois-FiquetCPoli-MerolML. Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype?J Pediatr Surg. (2015) 51:465–465. Epub ahead of print. 11. WisniewskiAMigeonCMaloufMGearhartJ. Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Urol. (2004) 171:2497–2497. 10.1097/01.ju.0000125269.91938.f7 12. FagerholmRSanttilaPMiettinenPMattilaARintalaRTaskinenS. Sexual function and attitudes toward surgery after feminizing genitoplasty. J Urol. (2011) 185:1900–1900. 10.1016/j.juro.2010.12.099 Summary

Keywords

congenital adrenal hyperplasia (CAH), disorder of sex development (DSD), feminizing genitoplasty, urogenital sinus mobilization, gender identidy Citation González R and Ludwikowski BM (2018) Is It Beneficial to Patients to Include Congenital Adrenal Hyperplasia (CAH) Among the Disorders of Sex Development (DSD)?. Front. Pediatr. 6:344. doi: 10.3389/fped.2018.00344 Received 25 August 2018 Accepted 23 October 2018 Published 12 November 2018 Volume 6 - 2018 Edited by Alexander Springer, Medizinische Universität Wien, Austria Reviewed by Tomasz Koszutski, Medical University of Silesia, Poland Updates Copyright © 2018 González and Ludwikowski. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. *Correspondence: Ricardo González [email protected] This article was submitted to Pediatric Urology, a section of the journal Frontiers in Pediatrics Disclaimer All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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