Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015) - PubMed (original) (raw)

doi: 10.1111/cen.12857. Epub 2015 Aug 13.

John C Achermann 2, Wiebke Arlt 3, Adam Balen 4, Gerry Conway 5, Zoe Edwards 6, Sue Elford 7, Ieuan A Hughes 8, Louise Izatt 9, Nils Krone 10, Harriet Miles 11, Stuart O'Toole 12, Les Perry 13, Caroline Sanders 14, Margaret Simmonds 15, Andrew Watt 16, Debbie Willis 17

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Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015)

S Faisal Ahmed et al. Clin Endocrinol (Oxf). 2016 May.

Abstract

It is paramount that any child or adolescent with a suspected disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. If there is any doubt, the case should be discussed with the regional DSD team. In most cases, particularly in the case of the newborn, the paediatric endocrinologist within the regional team acts commonly as the first point of contact. This clinician should be part of a multidisciplinary team experienced in management of DSD and should ensure that the affected person and parents have access to specialist psychological support and that their information needs are comprehensively addressed. The underlying pathophysiology of DSD and the strengths and weaknesses of the tests that can be performed should be discussed with the parents and affected young person and tests undertaken in a timely fashion. Finally, in the field of rare conditions, it is imperative that the clinician shares the experience with others through national and international clinical and research collaboration.

© 2015 John Wiley & Sons Ltd. Original manuscript © 2015 The Society for Endocrinology.

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Figures

Figure 1

Figure 1

Calculating the external masculinization score (

EMS

) provides an objective aggregate score of the extent of masculinization of the external genitalia Each individual feature of the genitalia (phallus size, labioscrotal fusion, site of the gonads and location of urethral meatus) can be individually scored to provide a score out of 12. Microphallus refers to a phallus below the male reference range. L/S, labioscrotal; Ing, inguinal; Abs, abdominal or absent on examination.

Figure 2

Figure 2

Approach to investigating adolescent girls with primary amenorrhoea.

Figure 3

Figure 3

Role of the clinical genetics service within the specialist

DSD

team.

MLPA

, mutation ligation‐dependent probe amplification;

CGH

, comparative genomic hybridisation.

Figure 4

Figure 4

Interpretation of the results of the

hCG

stimulation test when investigating

XY DSD

and pointers for consideration of prolonged

hCG

stimulation and

ACTH

stimulation. Prolonged

hCG

stimulation test should be considered in those cases where there is a poor testosterone response to a standard

hCG

stimulation test. Synacthen stimulation test should be considered in those cases who show a poor testosterone response to

hCG

stimulation. 46,

XY

children with lipoid

CAH

due to a St

AR

defect or P450scc deficiency due to

CYP

11A1 defect will have female genitalia and present in a salt‐losing state in the first days or weeks of life before Synacthen performed.

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References

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