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J Pediatr Urol. 2016 Jun;12(3):139-49. doi: 10.1016/j.jpurol.2016.04.001. Epub 2016 Apr 9.

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

Author information

1
Department of Paediatric Urology/Paediatric Surgery, Université Claude-Bernard, Hospices Civils de Lyon, Lyon, France; Centre National de Référence Maladies Rares sur les Anomalies Congénitales du Développement Génito-Sexuel, Lyon, France. Electronic address: pierre.mouriquand@chu-lyon.fr.
2
Department of Paediatric Urology/Paediatric Surgery, Université Claude-Bernard, Hospices Civils de Lyon, Lyon, France; Centre National de Référence Maladies Rares sur les Anomalies Congénitales du Développement Génito-Sexuel, Lyon, France.
3
NYS Psychiatric Institute, New York, NY, USA; College of Physicians & Surgeons of Columbia University, New York City, NY, USA.
4
Children's Medical Center, University of Texas Southwestern Medical Center, Dallas, TX, USA.
5
Pediatric Urology, UCSF Benioff Children's Hospital, San Francisco, CA, USA.
6
Service d'Endocrinologie de l'enfant, GHU Paris-Sud, Hôpital de Bicêtre, Paris, France; Centre National de Référence Maladies Rares sur les Anomalies Congénitales du Développement Génito-Sexuel, Paris, France.
7
Division of Urology, Department of Surgery, McMaster University, Toronto, Canada.
8
Pediatric Urology, Hasbro Children's Hospital, Providence, RI, USA; Surgery (Urology) and Pediatrics, Brown University, Rhode Island Hospital, Providence, RI, USA.
9
Centre National de Référence Maladies Rares sur les Anomalies Congénitales du Développement Génito-Sexuel, Paris, France; Adolescent Gynaecology, Hôpitaux Universitaires Paris Sud (Bicêtre), Paris, France.
10
Pediatric Surgery and Urology, University Hospital Robert Debré, APHP, University Paris Diderot, Sorbonne Paris Cité, Paris, France.
11
College of Physicians & Surgeons of Columbia University, New York City, NY, USA.
12
Urology, Ghent University Hospital, Gent, Belgium.
13
Riley Children's Hospital, Indiana University School of Medicine, Indianapolis, IN, USA.
14
Service de Chirurgie Viscérale et Urologique Pédiatrique, Hôpital Lapeyronie, CHU de Montpellier, Université de Montpellier, France.
15
Pediatric Urology, Children's Hospital of Philadelphia, PA, USA; Perelman School of Medicine at University of Pennsylvania, PA, USA.
16
Pediatric Urology, Fondazione IRCCS CaGranda, Ospedale Maggiore Policlinico, Milan, Italy.
17
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
18
Department of Surgery, Sidra Medical and Research Center, Doha, Qatar.
19
Komansky Center for Children's Health, New York Presbyterian Hospital, Weill Cornell Medicine, New York, NY, USA.
20
Great Ormond Street Hospital, Institute of Child Health, London, UK.
21
Department of Surgery, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada; Department of Urology, Dalhousie University, IWK Health Centre, Halifax, Nova Scotia, Canada.
22
Conseil d'éthique pédiatrique, Centre Hospitalo-Universitaire de Lyon, France.
23
UPMC Hamot Medical Center, Erie, PA, USA.
24
Paediatric Surgery, University of Casablanca, Morocco.
25
Neuropsychology, University of Palo Alto, CA, USA.
26
Department of Urology and Pediatric Urology, Erasmus MC Sophia Children's Hospital, Rotterdam.
27
Penn State Hershey Pediatric Endocrinology, PA, USA.

Abstract

Ten years after the consensus meeting on disorders of sex development (DSD), genital surgery continues to raise questions and criticisms concerning its indications, its technical aspects, timing and evaluation. This standpoint details each distinct situation and its possible management in 5 main groups of DSD patients with atypical genitalia: the 46,XX DSD group (congenital adrenal hyperplasia); the heterogeneous 46,XY DSD group (gonadal dysgenesis, disorders of steroidogenesis, target tissues impairments …); gonosomic mosaicisms (45,X/46,XY patients); ovo-testicular DSD; and "non-hormonal/non chromosomal" DSD. Questions are summarized for each DSD group with the support of literature and the feed-back of several world experts. Given the complexity and heterogeneity of presentation there is no consensus regarding the indications, the timing, the procedure nor the evaluation of outcome of DSD surgery. There are, however, some issues on which most experts would agree: 1) The need for identifying centres of expertise with a multidisciplinary approach; 2) A conservative management of the gonads in complete androgen insensitivity syndrome at least until puberty although some studies expressed concerns about the heightened tumour risk in this group; 3) To avoid vaginal dilatation in children after surgical reconstruction; 4) To keep asymptomatic mullerian remnants during childhood; 5) To remove confirmed streak gonads when Y material is present; 6) It is likely that 46,XY cloacal exstrophy, aphallia and severe micropenis would do best raised as male although this is based on limited outcome data. There is general acknowledgement among experts that timing, the choice of the individual and irreversibility of surgical procedures are sources of concerns. There is, however, little evidence provided regarding the impact of non-treated DSD during childhood for the individual development, the parents, society and the risk of stigmatization. The low level of evidence should lead to design collaborative prospective studies involving all parties and using consensual protocols of evaluation.

KEYWORDS:

17β hydroxy steroid dehydrogenase; 17βHSD; 5α reductase deficiency; AIS; Androgen insensitivity syndrome; CAH; Chromosomal anomalies; Congenital adrenal hyperplasia; DSD; Disorders of sex development; Genital surgery in children; Gonadal dysgenesis; Gonadal dysplasia; Hypospadias; Micropenis; Mixed gonadal dysgenesis; Ovo-testicular DSD

PMID:
27132944
DOI:
10.1016/j.jpurol.2016.04.001
[Indexed for MEDLINE]

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