Abstract
This chapter summarises the usual development of the urogenital system from which we can derive a series of simple rules for clinical diagnosis of a baby with DSD. We then describe a clinical approach to a baby with atypical genitalia using these rules to make a preliminary diagnosis, and supplemented with medical imaging, endoscopy or laparoscopy to support the basic laboratory and hormonal investigations.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Ahmed SF, Rodie M. Investigation and initial management of ambiguous genitalia. Best Pract Res Clin Endocrinol Metab. 2010;24(2):197–218. https://doi.org/10.1016/j.beem.2009.12.001.
Al-Alwan I, Navarro O, Daneman D, et al. Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyperplasia. J Pediatr. 1999;135(1):71–5.
Avni EF, Rypens F, Smet MH, et al. Sonographic demonstration of congenital adrenal hyperplasia in the neonate: the cerebriform pattern. Pediatr Radiol. 1993;23(2):88–90.
Banerjee AK, Clarke O, MacDonald LM. Sonographic detection of neonatal hydrometrocolpos. Br J Radiol. 1992;65(771):268–71.
Ben-Meir DB, Hutson JM. The anatomy of the caudal vas deferens in patients with a genital anomaly. J Pediatr Urol. 2005;1(5):349–54.
Blask AR, Sanders RC, Rock JA. Obstructed uterovaginal anomalies: demonstration with sonography. Part II. Teenagers. Radiology. 1991;179(1):84–8.
Cohen HL, Bober SE, Bow SN. Imaging the pediatric pelvis: the normal and abnormal genital tract and simulators of its diseases. Urol Radiol. 1992;14(4):273–83.
Cohen HL, Shapiro MA, Mandel FS, et al. Normal ovaries in neonates and infants: a sonographic study of 77 patients 1 day to 24 months old. AJR Am J Roentgenol. 1993;160(3):583–6.
Dong Y, Yi Y, Yao H, et al. Targeted next-generation sequencing identification of mutations in patients with disorders of sex development. BMC Med Genet. 2016;17:23.
Eberenz W, Rosenberg HK, Moshang T, et al. True hermaphroditism: sonographic demonstration of ovotestes. Radiology. 1991;179(2):429–31.
Eggers S, Sadedin S, van den Bergen JA, et al. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol. 2016;17(1):243.
Gambino J, Caldwell B, Dietrich R, et al. Congenital disorders of sexual differentiation: MR findings. AJR Am J Roentgenol. 1992;158(2):363–7.
Garel L, Dubois J, Grignon A, et al. US of the pediatric female pelvis: a clinical perspective. Radiographics. 2001;21(6):1393–407.
Grinspon RP, Rey RA. Disorders of sex development with testicular differentiation in SRY-negative 46,XX individuals: clinical and genetic aspects. Sex Dev. 2016;10(1):1–11.
Haber HP, Mayer EI. Ultrasound evaluation of uterine and ovarian size from birth to puberty. Pediatr Radiol. 1994;24(1):11–3.
Hata K, Nishigaki A, Makihara K, et al. Ultrasonic evaluation of the normal uterus in the neonate. J Perinat Med. 1989;17(4):313–7.
Hernanz-Schulman M, Brock JW 3rd, Russell W. Sonographic findings in infants with congenital adrenal hyperplasia. Pediatr Radiol. 2002;32(2):130–7.
Hutson JM, Kearsey I. “Is the ovary in an inguinal hernia ‘descended’ like a testis or not”. J Pediatr Surg, 2015;51(7):1197–200.
Kim JH, Kang E, Heo SH, et al. Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development. Mol Cell Endocrinol. 2017;444:19–25.
Kimberley N, Hutson JM, Southwell BR, et al. Vaginal agenesis, the hymen, and associated anomalies. J Pediatr Adolesc Gynecol. 2012;25(1):54–8.
Kutteh WH, Santos-Ramos R, Ermel LD. Accuracy of ultrasonic detection of the uterus in normal newborn infants: implications for infants with ambiguous genitalia. Ultrasound Obstet Gynecol. 1995;5(2):109–13.
Li R, Vannitamby A, Meijer J, et al. Postnatal germ cell development during mini-puberty in the mouse does not require androgen receptor: implications for managing cryptorchidism. J Urol. 2015;193(4):1361–7.
Lombardo MV, Auyeung B, Pramparo T, et al. Sex-specific impact of prenatal androgens on social brain default mode subsystems. Mol Psychiatry. 2018:1–14.
Lopez-Hernandez B, Mendez JP, Coral-Vazquez RM, et al. Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development. Reprod Biomed Online. 2018;37(1):107–12.
Low Y, Hutson JM. Rules for clinical diagnosis in babies with ambiguous genitalia. J Paediatr Child Health. 2003;39(6):406–13.
Oberfield SE, Mondok A, Shahrivar F, et al. Clitoral size in full-term infants. Am J Perinatol. 1989;6(4):453–4.
Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Arch Dis Child. 2004;89(5):401–7.
Oppenheimer DA, Carroll BA, Yousem S. Sonography of the normal neonatal adrenal gland. Radiology. 1983;146(1):157–60.
Phillip M, De Boer C, Pilpel D, et al. Clitoral and penile sizes of full term newborns in two different ethnic groups. J Pediatr Endocrinol Metab. 1996;9(2):175–9.
Sivit CJ, Hung W, Taylor GA, et al. Sonography in neonatal congenital adrenal hyperplasia. AJR Am J Roentgenol. 1991;156(1):141–3.
Stranzinger E, Strouse PJ. Ultrasound of the pediatric female pelvis. Semin Ultrasound CT MR. 2008;29(2):98–113.
Tong SY, Hutson JM, Watts LM. Does testosterone diffuse down the wolffian duct during sexual differentiation? J Urol. 1996;155(6):2057–9.
Acknowledgments
We acknowledge with thanks to Murray Bartlett, who contributed to the first edition.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2020 Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
Hutson, J.M., Bouty, A. (2020). The Neonate with Atypical Genitalia. In: Hutson, J., Grover, S., O'Connell, M., Bouty, A., Hanna, C. (eds) Disorders|Differences of Sex Development. Springer, Singapore. https://doi.org/10.1007/978-981-13-7864-5_12
Download citation
DOI: https://doi.org/10.1007/978-981-13-7864-5_12
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-13-7863-8
Online ISBN: 978-981-13-7864-5
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)