Abstract
The diagnosis of a DSD—a disorder of sex development—whether made in infancy or as a young person—involves a full multidisciplinary team. Progress has been made in recent years with the advances of nomenclature, treatment, and psychological approaches and the disorders have been categorized into more patient-friendly terminology, leaving behind confusing and upsetting labels and stigma. These predominant DSD will be discussed in accordance with the new categories, detailing clinical presentation, management and nursing considerations in order to implement best practice. Emphasis here is placed on a fully co-operative multidisciplinary team, but also the nurses’ role, who can offer continued support and guidance to the child/young person and their families.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Abbreviations
- 11-DOC:
-
11-deoxycortisol
- 17-OHP:
-
17 alpha-hydroxyprogesterone
- 21-OHD:
-
21-hydroxylase deficiency
- 5αRD:
-
5 alpha reductase deficiency
- A4:
-
Androstenedione
- ACTH:
-
Adrenocorticotropic hormone
- AIS:
-
Androgen insensitivity syndrome
- AMH:
-
Anti-Mullerian hormone
- CAH:
-
Congenital adrenal hyperplasia
- CAIS:
-
Complete androgen insensitivity syndrome
- CNS:
-
Clinical nurse specialist
- DHEA:
-
Dehydroepiandrosterone
- DHT:
-
Dihydrotestosterone
- DSD:
-
Disorder of sex development
- FISH:
-
Fluorescence in situ hybridization
- FSH:
-
Follicle stimulating hormone
- GnRH:
-
Gonadotrophin releasing hormone
- GP:
-
General practitioner
- HCG:
-
Human chorionic Gonadotrophin
- LH:
-
Luteinizing hormone
- MDT:
-
Multidisciplinary team
- MIS:
-
Mullerian-inhibiting substance
- MRKH:
-
Mayer-Rokitansky-Küster-Hauser syndrome
- MURCS:
-
Mullerian, renal, cervicothoracic somite abnormalities
- NICU:
-
Neonatal intensive care unit
- PAIS:
-
Partial androgen insensitivity syndrome
- PCOS:
-
Polycystic ovarian syndrome
- PENS:
-
Paediatric endocrine nurse specialist
- TS:
-
Turner syndrome
- UK:
-
United Kingdom
References
Ahmed SF, Rodie M. Investigation and initial management of ambiguous genitalia. Best Pract Res Clin Endocrinol Metab. 2010;24(2):197–218.
Ahmed SF, Achermann JC, Arlt W, Balen AH, Conway G, Edwards ZL, et al. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clin Endocrinol. 2011;75(1):12–26.
Ahmed SF, Achermann JC, Arlt W, Balen AH, Conway G, Edwards ZL, et al. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015). Clin Endocrinol. 2015;0:1–18.
Biason-Lauber A. Control of sex development. Best Pract Res Clin Endocrinol Metab. 2010;24(2):163–86.
Boyse KL, Gardner M, Marvicsin DJ, Sandberg DE. “It was an overwhelming thing”: parents’ needs after infant diagnosis of CAH. J Pediatr Nurs. 2014;29(5):436–41.
Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, et al. Holistic management of DSD. Best Pract Res Clin Endocrinol Metab. 2010;24(2):335–54.
Butler G, Kirk J. Paediatric endocrinology and diabetes. Oxford: OUP Press; 2011.
Creighton S, Chernausek SD, Romao R, Ransley P, Salle JP. Timing and nature of reconstructive surgery for disorders of sex development - introduction. J Pediatr Urol. 2012;8(6):602–10.
Crissman HP, Warner L, Gardner M, Carr M, Schast A, Quittner AL, et al. Children with disorders of sex development: a qualitative study of early parental experience. Int J Pediatr Endocrinol. 2011;2011(1):10.
Crouch NS, Creighton SM. Transition of care for adolescents with disorders of sex development. Nat Rev Endocrinol. 2014;10(7):436–42.
Davies K. Disorders of sex development–ambiguous genitalia. J Pediatr Nurs. 2016;31(4):463–6.
Devlin JK, Wilkinson A. Routine examination of the neonate. J Clin Examination. 2008;5:16–21.
Hewitt J, Warne GL. Management of disorders of sex development. Pediatr Health. 2009;3(1):1–65.
Hewitt JK, Warne GL. Mixed sex chromosome and ovo-testiular DSD. In: Hutson JM, Warne GL, Grover SR, editors. Disorders of sex development: an integrated approach to management. Wurzberg: Springer; 2012a. p. 81–7.
Hewitt JK, Warne GL. 46, XY DSD. In: Hutson JM, Warne GL, Grover SR, editors. Disorders of sex development: an integrated approach to management. Wurzberg: Springer; 2012b. p. 63–80.
Hughes IA, Nihoul-Fekete C, Thomas B, Cohen-Kettenis PT. Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. Best Pract Res Clin Endocrinol Metab. 2007;21(3):351–65.
Hughes IA, Morel Y, McElreavey K, Rogol A. Biological assessment of abnormal genitalia. J Pediatr Urol. 2012a;8(6):592–6.
Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J. Androgen insensitivity syndrome. Lancet. 2012b;380(9851):1419–28.
Ishii T, Matsuo N, Sato S, Ogata T, Tamai S, Anzo M, et al. Human chorionic gonadotropin stimulation test in prepubertal children with micropenis can accurately predict Leydig Cell function in pubertal or postpubertal adolescents. Horm Res Paediatr. 2015;84(5):305–10.
Kinsman L, Rotter T, James E, Snow P, Willis J. What is a clinical pathway? Development of a definition to inform the debate. BMC Med. 2010;8:31.
Kobayashi A, Behringer RR. Developmental genetics of the female reproductive tract in mammals. Nat Rev Genet. 2003;4(12):969–80.
Lee PA, Houk CP, Ahmed SF, Hughes IA. Society icwtpitICCoIobtLWPE, Endocrinology tESfP. Consensus statement on management of intersex disorders. Pediatrics. 2006;118(2):e488–500.
Lee P, Schober J, Nordenstrom A, Hoebeke P, Houk C, Looijenga L, et al. Review of recent outcome data of disorders of sex development (DSD): emphasis on surgical and sexual outcomes. J Pediatr Urol. 2012;8(6):611–5.
Lee PA, Nordenstrom 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.
Loughlin E. The family. In: Hutson JM, Warne GL, Grover SR, editors. Disorders of sex development: an integrated approach to management. Wurzberg: Springer; 2012. p. 193–201.
Mendonca BB, Inacio M, Costa EMF, Arnhold IJP, Silva FAQ, Nicolau W, et al. Male pseudohermaphroditism due to steroid 5 alpha reductase deficiency: diagnosis, psychological evaluation and management. Medicine. 1996;75(2):64–76.
Mendonca BB, Domenice S, Arnhold IJ, Costa EM. 46,XY disorders of sex development (DSD). Clin Endocrinol. 2009;70(2):173–87.
Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S. 46,XY DSD due to impaired androgen production. Best Pract Res Clin Endocrinol Metab. 2010;24(2):243–62.
Mongan NP, Tadokoro-Cuccaro R, Bunch T, Hughes IA. Androgen insensitivity syndrome. Best Pract Res Clin Endocrinol Metab. 2015;29(4):569–80.
Moshiri M, Chapman T, Fechner PY, Dubinsky TJ, Shnorhavorian M, Osman S, et al. Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 2012;32(6):1599–618.
Odame I, Donaldson MD, Wallace AM, Cochran W, Smith PJ. Early diagnosis and management of 5a-reductase deficiency. Arch Dis Child. 1992;67:720–3.
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):618–23.
Raine JE, Donaldson MDC, Gregory JW, van Vliet G, editors. Practical endocrinology and diabetes in children. 3rd ed. Chichester: Wiley - Blackwell; 2011.
Rey RA, Grinspon RP. Normal male sexual differentiation and aetiology of disorders of sex development. Best Pract Res Clin Endocrinol Metab. 2011;25(2):221–38.
Rodie M, McGowan R, Mayo A, Midgley P, Driver CP, Kinney M, et al. Factors that influence the decision to perform a karyotype in suspected disorders of sex development: lessons from the Scottish genital anomaly network register. Sex Dev. 2011;5(3):103–8.
Rothkopf AC, John RM. Understanding Disorders of Sexual Development. J Pediatr Nurs. 2014;29(5):e23–34.
Sanders C, Carter B, Goodacre L. Searching for harmony: parents’ narratives about their child's genital ambiguity and reconstructive genital surgeries in childhood. J Adv Nurs. 2011;67(10):2220–30.
Sanders C, Edwards Z, Keegan K. Exploring stakeholder experiences of interprofessional teamwork in sex development outpatient clinics. J Interprof Care. 2017;31(3):376–85.
Schaeffer TL, Tryggestad JB, Mallappa A, Hanna AE, Krishnan S, Chernausek SD, et al. An evidence-based model of multidisciplinary care for patients and families affected by classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Int J Pediatr Endocrinol. 2010;2010:692439.
Schober J, Nordenstrom A, Hoebeke P, Lee P, Houk C, Looijenga L, et al. Disorders of sex development: summaries of long-term outcome studies. J Pediatr Urol. 2012;8(6):616–23.
Tadokoro-Cuccaro R, Hughes IA. Androgen insensitivity syndrome. Curr Opin Endocrinol Diabetes Obes. 2014;21(6):499–503.
Vidal I, Gorduza DB, Haraux E, Gay CL, Chatelain P, Nicolino M, et al. Surgical options in disorders of sex development (dsd) with ambiguous genitalia. Best Pract Res Clin Endocrinol Metab. 2010;24(2):311–24.
Warne GL, Hewitt JK. 46,XX disorders of sex development. In: Hutson JM, Warne GL, Grover SR, editors. Disorders of sex development: an integrated approach to management. Wurzberg: Springer; 2012a. p. 53–61.
Warne GL, Hewitt JK. The medical management of disorders of sex development. In: Hutson JM, Warne GL, Grover SR, editors. Disorders of sex development: an integrated approach to management. Wurzberg: Springer; 2012b. p. 159–72.
White S, Sinclair A. The molecular basis of gonadal development and disorders of sex development. In: Hutson JM, Warne GL, Grover SR, editors. Disorders of sex development: an integrated approach to management. Wurzberg: Springer; 2012. p. 1–9.
Wisniewski AB, Migeon CJ, HFL M-B, Gearhart JP, Berkovitz GD, Brown TR, et al. Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab. 2000;85(8):2664–9.
Wisniewski AB, Chernausek SD, Kropp BP. Disorders of sex development: A guide for parents and physicians. Baltimore, MD: Johns Hopkins University Press; 2012.
Woodward M, Patwardhan N. Disorders of sex development. Surgery (Oxford). 2010;28(8):396–401.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
Davies, K. (2019). Disorders of Sex Development (DSD). In: Llahana, S., Follin, C., Yedinak, C., Grossman, A. (eds) Advanced Practice in Endocrinology Nursing. Springer, Cham. https://doi.org/10.1007/978-3-319-99817-6_3
Download citation
DOI: https://doi.org/10.1007/978-3-319-99817-6_3
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-99815-2
Online ISBN: 978-3-319-99817-6
eBook Packages: MedicineMedicine (R0)