Statistics

Number of Journals8
Number of Issues51
Number of Articles379
Article View103,428
PDF Download67,559
Ordooei, M., Amouei, A., Mirjalili, S., Ordoei, M., Rasoulizadeh, Z. (2022). Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study. Shahid Sadoughi University of Medical Sciences- Journal Management System, 5(1), 11-16. doi: 10.18502/wjpn.v5i1.10123
Mahtab Ordooei; Abdolhamid Amouei; Seyed Reza Mirjalili; Marzieh Ordoei; Zahra Rasoulizadeh. "Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study". Shahid Sadoughi University of Medical Sciences- Journal Management System, 5, 1, 2022, 11-16. doi: 10.18502/wjpn.v5i1.10123
Ordooei, M., Amouei, A., Mirjalili, S., Ordoei, M., Rasoulizadeh, Z. (2022). 'Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study', Shahid Sadoughi University of Medical Sciences- Journal Management System, 5(1), pp. 11-16. doi: 10.18502/wjpn.v5i1.10123
Ordooei, M., Amouei, A., Mirjalili, S., Ordoei, M., Rasoulizadeh, Z. Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2022; 5(1): 11-16. doi: 10.18502/wjpn.v5i1.10123

Etiological Classification of Patients with Ambiguous Genitalia: A Cross-Sectional Study

World Journal of Peri and Neonatology
Article 3, Volume 5, Issue 1, July 2022, Pages 11-16    PDF (331.1 K)
Document Type: Original Article
DOI: 10.18502/wjpn.v5i1.10123
Authors
Mahtab Ordooei1, 2; Abdolhamid Amouei3, 4; Seyed Reza Mirjalili2, 5; Marzieh Ordoei6; Zahra Rasoulizadeh* 2, 3
1Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4Depatment of General Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
6Department of Endocrinology and Adult Metabolism, University of Kerman, Kerman, Iran
Abstract
Background: Disorder of sex development (DSD) is one of the most serious problems encountered at birth. DSD is a heterogeneous group of rare conditions wherein chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to define the classification and etiological distribution of patients presented with ambiguous genitalia
Methods: This study was a cross-sectional study conducted in the department of Pediatric and Endocrinology and Surgery at Shahid Sadoughi Hospital in Yazd from March 2016 to March 2020. All patients with genital ambiguity were included in the study with the exception of five patients since they did not have a final diagnosis of ambiguous genitalia.
Results: Out of 50 patients, thirty-one (62 %) patients were diagnosed with 46, XXDSD, fifteen (30%) patients with 46, XYDSD, while four (8%) patients with ovotesticular DSD. Congenital adrenal hyperplasia (CAH) was the common cause in 46, XXDSD with majority due to deficiency of 21 hydroxylase enzyme. Three (6%) patients with 46, XXDSD were diagnosed with genital ambiguity as part of syndrome. Out of patients with 46, XYDSD, CAH observed in two (4%) patients, severe hypospadias in nine (18%) patients and 5-alpha reductase deficiency in two (4%) patients and one (2%) patient with syndrome. Four (8%) patients were diagnosed with ovoteticular DSD.
Conclusion: Our study revealed that 46, XXDSD was the most frequent DSD etiological diagnosis. CAH was the commonest cause in 46, XXDSD and severe hypospadias were the underlying cause of 46, XYDSD.
Keywords
Disorders of sex development; newborn; Ambiguous Genitalia; Congenital Adrenal Hyperplasia
References
  1. Hiort O, Birnbaum W, Marshall L, Wünsch L, Werner R, Schröder T, et al. Management of disorders of sex development. Nat Rev Endocrinol. 2014;10(9):520-9.
  2. Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Arch Dis Child. 2004;89(5):401-7.
  3. Armanian AM, Kelishadi R, Ardalan G, Taslimi M, Taheri M, Motlagh ME. Prevalence of genitalia malformation in Iranian children: findings of a nationwide screening survey at school entry. Adv Biomed Res. 2014;3:36.
  4. Wisniewski AB. Psychosocial implications of disorders of sex development treatment for parents. Curr Opin Urol. 2017;27(1):11-3.
  5. GHANEI A, MOHAMMADZADE G, ZAREPUR E, SOHEYLIKHAH S. CONGENITAL ADRENAL HYPERPLASIA AND VANISHING TESTIS: RARE CASE OF MALE PSEUDOHERMAPHRODITISM. INTERNATIONAL JOURNAL OF REPRODUCTIVE BIOMEDICINE (IRANIAN JOURNAL OF REPRODUCTIVE MEDICINE). 2016;14(3):-.
  6. Erdoğan S, Kara C, Uçaktürk A, Aydın M. Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Pediatr Endocrinol. 2011;3(2):77-83.
  7. Kliegman RE. Nelson textbook of pediatrics. Edition 21. ed.   Philadelphia, PA : Elsevier, [2020]            
  8. Hughes IA. Consequences of the Chicago DSD Consensus: A Personal Perspective. Horm Metab Res. 2015;47(5):394-400.
  9. Bertelloni S, Tyutyusheva N, Valiani M, D'Alberton F, Baldinotti F, Caligo MA, et al. Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype. Front Pediatr. 2021;9:627281.
  10. Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr. 2016;85(3):158-80.
  11. Kutney K, Konczal L, Kaminski B, Uli N. Challenges in the diagnosis and management of disorders of sex development. Birth Defects Res C Embryo Today. 2016;108(4):293-308.
  12. van der Zwan YG, Biermann K, Wolffenbuttel KP, Cools M, Looijenga LH. Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model. Eur Urol. 2015;67(4):692-701.
  13. Ono M, Harley VR. Disorders of sex development: new genes, new concepts. Nat Rev Endocrinol. 2013;9(2):79-91.
  14. Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, et al. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet. 2013;83(1):35-43.
  15. Walia R, Singla M, Vaiphei K, Kumar S, Bhansali A. Disorders of sex development: a study of 194 cases. Endocr Connect. 2018;7(2):364-71.
  16. Shamma RA, Atef S, Arafa N. Etiological classification and clinical spectrum of Egyptian pediatric patients with disorder of sex development, single center experience. Endokrynol Pol. 2021;72(5):558-65.
  17. Kohva E, Miettinen PJ, Taskinen S, Hero M, Tarkkanen A, Raivio T. Disorders of sex development: timing of diagnosis and management in a single large tertiary center. Endocr Connect. 2018;7(4):595-603.
  18. Dar SA, 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 Endocrinol Metab. 2018;22(6):774-9.
  19. Al-Jurayyan NA. Ambiguous genitalia: two decades of experience. Ann Saudi Med. 2011;31(3):284-8.
  20. Ganie Y, Aldous C, Balakrishna Y, Wiersma R. The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience. Horm Res Paediatr. 2017;87(5):307-14.
  21. Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, et al. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia. Clin Endocrinol (Oxf). 2016;85(2):247-57.
  22. Misgar RA, Bhat MH, Masoodi SR, Bashir MI, Wani AI, Baba AA, et al. Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley. Indian J Endocrinol Metab. 2019;23(5):575-9.
  23. Witchel SF. Congenital Adrenal Hyperplasia. J Pediatr Adolesc Gynecol. 2017;30(5):520-34.
  24. Jahagirdar R, Khadilkar V, Deshpande R, Lohiya N. Clinical, Etiological and Laboratory Profile of Children with Disorders of Sexual Development (DSD)-Experience from a Tertiary Pediatric Endocrine Unit in Western India. Indian J Endocrinol Metab. 2021;25(1):48-53.
  25. Ozsu E, Mutlu GY, Cizmecioglu FM, Ekingen G, Muezzinoglu B, Hatun S. Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype. J Pediatr Endocrinol Metab. 2013;26(7-8):789-91.
Statistics
Article View: 317
PDF Download: 114


Journal Management System. Powered by Sinaweb