Review articleSurgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?
Introduction
Ten years after the Chicago consensus meeting [1], genital surgery continues to raise questions and criticisms concerning its indications, its timing, and its technical aspects [2], [3]. Opinions are more common than facts as the volume of patients in each group of disorders of sex development (DSD) is small, management is extraordinarily heterogeneous across centers, and pre- and post-treatment evaluations are mostly subjective, examiner-dependent, and culturally influenced. Hence, the classical methodology of evidence-based medicine meets major hurdles, which are responsible for several unanswered questions that we attempt to list in this standpoint article.
The first major hurdle is the definition of the acronym DSD. Does it include all congenital developmental genito-sexual anomalies, and, if so, are undescended testicles, hypospadias, or even labial adhesions included? Or should the definition be limited to situations in which there is an inadequacy between genital anatomy (phenotype) and biological profile (biotype), which may raise questions about gender assignment? This restrictive definition of DSD does not identify genital anomalies with no detectable biological or chromosomal anomalies, which represent the vast majority of patients.
The second hurdle is semantic as the terms “gender,” “sex,” “sexual,” have discordant interpretations. “Gender” is a social concept, which is the way the society mirrors the “individual identity.” It does not take into account the “individual identity” (“inside identity”) and the future “gender role” (“behavioral identity”), which are invisible at birth and the modalities of which are mostly unknown, that is multifactorial [4]. The term “genital” has been avoided in the Chicago meeting, although atypical genito-sexual development should be the main focus of this discussion. Hence, it is essential to correlate phenotype and biotype as atypical anatomy is the first clinical sign from which suspicion of a DSD is raised in the newborn and will lead to a chain of investigations to define to which group of DSD the patient belongs.
Section snippets
Who are we talking about? What difficulties are met in the management of each of the following DSD groups?
Using the Chicago canvas [5], five main groups of DSD patients may be identified, submitted to the gender assignment process, and may be considered for a surgical genital reconstruction.
- (1)
In the 46,XX DSD group, classical congenital adrenal hyperplasia (CAH) represents the most common diagnosis. There is usually no gender issue in this group, except in case of late diagnosis and severely masculinized 46,XX individuals. Genital phenotype of prenatally non-treated 46,XX CAH patients at birth
Aims of surgery
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Restore functional genital anatomy to allow future penetrative intercourse (as a male or a female),
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Facilitate future reproduction (as a male or a female) when possible,
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Reduce urological hazards related to abnormal genito-urinary anatomy, that is urinary tract infections, with potential upper urinary tract consequences and urinary incontinence,
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Avoid fluid or blood retention in vaginal or uterine cavities,
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Avoid late virilization at puberty in individuals raised as girls or breast development in
The context of decision
Before birth: When there is an index case in the family, especially CAH, targeting fetuses at risk has been considerably improved with early detection of fetal DNA (SRY) in maternal serum at 4–5 weeks of gestation, followed by chorionic villus sampling at 10 WG to possibly treat with dexamethasone affected 46,XX CAH fetuses. This option aims at diminishing fetal virilization [25], [40].
In other cases, discrepancies between prenatal ultrasound findings and fetal karyotype may raise the question
Where do we stand in 2015 with these very distinct situations?
To attempt to answer this question, a detailed questionnaire reviewing the most difficult clinical situations was sent to several world DSD experts.
Conclusions
It appears obvious that given the complexity and heterogeneity of presentation there is no consensus regarding the indications, the timing, the procedure, and the evaluation of outcome of DSD surgery. The levels of evidence of the answers given by the experts are low (B and C), most decisions being supported by team expertise. Literature mostly reports short clinical series, which cannot be compared considering the heterogeneousness of pathologies and management between centers. There are,
Conflict of interest
None.
Funding
None.
References (87)
- et al.
Consensus statement on management of intersex disorders
J Pediatr Urol
(2006) - et al.
The ESPU/SPU standpoint on the surgical management of Disorders of Sex Development (DSD)
J Pediatr Urol
(2014) - et al.
Potential determinant factors of sexual identity in ambiguous genitalia
J Pediatr Urol
(2005) - et al.
Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures
J Pediatr Urol
(2014) Fetal genital anatomy reconstructive implications
J Urol
(1999)- et al.
Prenatal diagnosis and treatment of 21-hydroxylase deficiency
J Steroid Biochem Mol Biol
(1993) - et al.
Surgical outcomes and patients' satisfaction with suprapubic phalloplasty
J Sex Med
(2014) The formation of an artificial vagina without operation
Am J Org
(1938)- et al.
Partial urogenital mobilization: a limited proximal dissection
J Pediatr Urol
(2006) - et al.
Long-term outcome of vaginal reconstruction: comparing techniques and timing
J Pediatr Urol
(2007)
A model of delivering multi-disciplinary care to people with 46 XY DSD
J Pediatr Urol
Timing and nature of reconstructive surgery for disorders of sex development - introduction
J Pediatr Urol
Practice changes in childhood surgery for ambiguous genitalia?
J Pediatr Urol
Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development
Child Adolesc Psychiatr Clin N Am
Severity of virilization is associated with cosmetic appearance and sexual function in women with congenital adrenal hyperplasia: a cross-sectional study
J Sex Med
Nerve sparing ventral clitoroplasty preserves dorsal nerves in congenital adrenal hyperplasia
J Urol
Nerve sparing ventral clitoroplasty: analysis of clitoral sensitivity and viability
J Urol
Review of recent outcome data of disorders of sex development (DSD): emphasis on surgical and sexual outcomes
J Pediatr Urol
Cosmetic and anatomic outcomes after feminizing surgery for ambiguous genitalia
J Pediatr Surg
Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype?
J Pediatr Surg
Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency
J Urol
Sexual function and attitudes toward surgery after feminizing genitoplasty
J Urol
Results from a pediatric surgical centre justify early intervention in disorders of sex development
J Pediatr Surg
The Isabel Forshall Lecture. Surgical management of the intersex patient: an overview in 2003
J Pediatr Surg
The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study
Lancet Lond Engl
A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis
J Pediatr Adolesc Gynecol
Tumor risk in disorders of sex development (DSD)
Best Pract Res Clin Endocrinol Metab
Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies
J Pediatr Urol
The long-term followup of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery
J Urol
Long-term followup of a large cohort of patients with ovotesticular disorder of sex development
J Urol
46, XY female with cloacal exstrophy and masculinization at puberty
J Pediatr Urol
Gender assignment for newborns with 46XY cloacal exstrophy: a 6-year followup survey of pediatric urologists
J Urol
Radial forearm free flap phalloplasty for penile inadequacy in patients with exstrophy
J Urol
Timing of feminising surgery in disorders of sex development
Endocr Dev
Consensus statement on management of intersex disorders. International consensus Conference on intersex
Pediatrics
Review of outcome information in 46,XX patients with congenital adrenal hyperplasia assigned/reared male: what does it say about gender assignment?
Int J Pediatr Endocrinol
Genital findings in the female pseudo-hermaphroditism of the congenital adrenogenital syndrome; morphology, frequency, development and heredity of the different genital forms
Helv Paediatr Acta
Congenital adrenal hyperplasia patient perception of “disorders of sex development” nomenclature
Int J Pediatr Endocrinol
Gender change in 46,XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency
Arch Sex Behav
Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers
Endocr Rev
Managing the risk of germ cell tumourigenesis in disorders of sex development patients
Endocr Dev
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence
Clin Endocrinol (Oxf)
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