Prospective assessment of cosmesis before and after genital surgery

doi:10.1016/j.jpurol.2016.08.017

Journal of Pediatric Urology

Volume 13, Issue 1, February 2017, Pages 28.e1-28.e6

https://doi.org/10.1016/j.jpurol.2016.08.017 Get rights and content

Summary

Introduction

Little data exist about the surgical interventions taking place for children with disorders of sex development (DSD). Most studies that have evaluated cosmetic outcomes after genitoplasty have included retrospective ratings by a physician at a single center.

Objective

The present study aimed to: 1) describe frequency of sex assignment, and types of surgery performed in a cohort of patients with moderate-to-severe genital ambiguity; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery.

Study design

This prospective, observational study included children aged <2 years of age, with no prior genitoplasty at the time of enrollment, moderate-to-severe genital atypia, and being treated at one of 11 children's hospitals in the United States of America (USA). Clinical information was collected, including type of surgery performed. Parents and the local pediatric urologist rated the cosmetic appearance of the child's genitalia prior to and 6 months after genitoplasty.

Results

Of the 37 children meeting eligibility criteria, 20 (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism. The most common diagnosis overall was congenital adrenal hyperplasia (54%). Thirty-five children had surgery; 21 received feminizing genitoplasty, and 14 had masculinizing genitoplasty. Two families decided against surgery. At baseline, 22 mothers (63%), 14 fathers (48%), and 35 surgeons (100%) stated that they were dissatisfied or very dissatisfied with the appearance of the child's genitalia. Surgeons rated the appearance of the genitalia significantly worse than mothers (P < 0.001) and fathers (P ≤ 0.001) at baseline. At the 6-month postoperative visit, cosmesis ratings improved significantly for all groups (P < 0.001 for all groups). Thirty-two mothers (94%), 26 fathers (92%), and 31 surgeons (88%) reported either a good outcome, or they were satisfied (see Summary Figure); there were no significant between-group differences in ratings.

Discussion

This multicenter, observational study showed surgical interventions being performed at DSD centers in the USA. While parent and surgeon ratings were discordant pre-operatively, they were generally concordant postoperatively. Satisfaction with postoperative cosmesis does not necessarily equate with satisfaction with the functional outcome later in life.

Conclusion

In this cohort of children with genital atypia, the majority had surgery. Parents and surgeons all rated the appearance of the genitalia unfavorably before surgery, with surgeons giving worse ratings than parents. Cosmesis ratings improved significantly after surgery, with no between-group differences.

Introduction

Disorders or differences of sex development (DSD) are conditions in which the chromosomal, gonadal or phenotypic sex is atypical [1]; atypical external genitalia are often the presenting feature. The incidence is reported to be 2 per 10, 000 births [2]. It is recommended that genital surgery for a child raised as a female only be considered in cases of severe virilization (Prader 3–5) and that surgery of the clitoris not be performed for reasons of cosmetic appearance alone [1]. For patients with congenital adrenal hyperplasia (CAH) with severe virilization raised as a female, it is recommended that ‘clitoral and perineal reconstruction be considered in infancy’ and those with a low vaginal confluence undergo vaginoplasty at an ‘early age’; the appropriate timing is less certain for those with a higher vaginal confluence [3]. Whether or not to perform clitoroplasty for children with a large clitoris raised as a female is controversial, and the rates of and rationale for clitoroplasty across institutions are unknown. Recommendations for masculinizing genitoplasty are vague [4]. Hypospadias repair is more successful if performed in pediatric rather than adult patients [5]. The current rates of surgery in the United States of America (USA) among children with atypical genitalia are unknown, as there have been no multicenter, prospective studies on this topic. The frequency of surgery and types of procedures performed may differ from prior eras; this is due to changes in attitudes regarding surgery and sex assignment, and because preferences for different procedures and advances in surgical techniques also change over time.

Cosmetic outcomes after genitoplasty are variable [6], [7], [8], [9], [10], [11], [12]. Most studies have included only cosmetic and functional outcomes rated by a physician [7], [8], [10], [11], [12], and satisfaction ratings may differ between patients and physicians. Studies that include cosmetic ratings by affected adults are scarce [9], [12], and fewer exist among adolescents [7] or children [11], with most being small, retrospective and single center [7], [9], [10], [12].

The present prospective, observational, multi-center study aimed to: 1) describe the frequency of sex assignment and types of surgery performed in a cohort of patients followed with moderate-to-severe genital ambiguity at DSD centers in the USA; and 2) prospectively determine cosmesis ratings by parents and surgeons before and after genital surgery. It was hypothesized that there would be no difference in baseline ratings between parents and surgeons, but that ratings by surgeons would be more favorable than those by parents at the 6-month postoperative visit.

Section snippets

Participants

Participants included children from 11 children's hospitals in the USA with programs that specialize in DSD care, they were: Children's Hospital, Colorado; University of Oklahoma Health Sciences Center; St. Louis Children's Hospital; University of California, San Francisco; New York Presbyterian Hospital; Boston Children's Hospital; Lurie Children's Hospital of Chicago; Women and Children's Hospital of Buffalo; Children's Hospital of Philadelphia; Children's Hospital of Michigan; and Cincinnati

Diagnosis and sex of rearing

Thirty-seven subjects (93% of eligible) completed both the baseline and 6-month visit (Fig. 1). The mean age at the baseline visit was 9.8 months (range: 0.5–28.5); mean age at the 6-month visit was 19.6 months (range: 10.4–36.0). Twenty children (54%) had a 46,XX karyotype, 15 (40%) had a 46,XY karyotype, and two (5%) had sex chromosome mosaicism (Table 1). The most common diagnosis overall was CAH (54%), which accounted for all subjects with a 46,XX chromosomal complement. Eleven children

Discussion

This prospective, multicenter study found that prior to surgery, most parents and surgeons reported dissatisfaction with the appearance of the child's genitalia, with surgeons giving less favorable ratings than mothers or fathers. Postoperatively, parents and surgeons gave more favorable ratings as compared with baseline, with no between-group differences.

It was hypothesized that there would be no difference in baseline ratings between parents and surgeons; however, surgeons rated the

Conclusion

In this prospective, multicenter, observational study, the majority of children with moderate-to-severe genital atypia underwent surgery early in life. Parents and surgeons generally rated the cosmetic appearance of the genitalia unfavorably before surgery, with surgeons giving less favorable ratings than parents, but parents and surgeons reported equally favorable results after surgery.

Conflicts of interest

Dr. Paul Austin serves on the pediatric advisory group and is a clinical investigator for Allergan. Dr. Dix Poppas is the co-founder of Promethean Surgical Devices, Inc. Neither are directly related to the funding or design of the study.

Ethics approval

The local institutional review boards at all sites approved this study.

Acknowledgements

Thank you to the parents and children who participated in this study. The National Institutes of Health (R01HD074579), PIs Amy Wisniewski and Larry Mullins supported this work. Dr. Nokoff is supported by a T32 grant (T32 DK 63687).

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Parents of Children With Newly Diagnosed Disorders of Sex Development Identify Major Concerns: A Qualitative Study
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To develop a conceptual framework to understand and define the impact of DSD diagnosis and management from the perspective of parents of recently diagnosed children.
Semi-structured interviews were conducted with parents of children diagnosed with 46 XX, 46 XY, or chromosomal DSD including complete or partial androgen insensitivity, congenital adrenal hyperplasia, or 5-alpha reductase deficiency. Analysis was completed using content analysis with an inductive approach by three coders.
Parents of 6 patients agreed to be interviewed, consistent with saturation points for prior similar studies; a total of 16 recurring themes were identified which were further grouped by similarity and categorized into 1 of 3 meta-themes: a) personal impact (effect of diagnosis on parents psyche, happiness, gender/sexual identity, anatomic function, mental health), b) family impact (relationships with parents/siblings, parental guilt); and c) societal impact (bullying, need for secrecy, future desirability, societal openness to DSD individuals).
Personal, family, and societal concerns amongst parents following a DSD diagnosis have significant potential psychosocial impacts for both parents as well children. The nexus between these categories provides a framework for approaching diagnosis and management of DSD and has implications for patients, families, and clinicians. Improved resource allocation, education, and clinical tools conceived through this framework may considerably alleviate potent psychosocial stressors for parents of children born with DSD.
Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE)
2021, Journal of Pediatric Urology
Citation Excerpt :
Overall, the participants considered the impact of hypospadias repair on life neutral to positive. They were less positive on the postoperative genital appearance when compared to physicians who rated the appearance as good according to previous published data about the evaluation of cosmesis before and after genital surgery [26]. However, compared to appearance, participants were more satisfied with their genital function.
Surgery is performed in many individuals with disorders/differences of sex development (DSD). Irreversibility of some surgical procedures, lack of information about the procedures, and lack of follow-up care for physical and psychological outcomes, lead to wish for more knowledge from both surgeons and patients. After the consensus conference in 2006, multidisciplinary care is provided to a higher degree with psychological support and more restricted surgical procedures. Outcome studies after genital surgery often lack of patient's perspective.
To describe surgical procedures in relation to diagnosis, to evaluate the outcomes of surgery through genital examination, and through patient's and observer's satisfaction with the anatomical and functional result after genital surgery.
In a cross-sectional clinical study performed in six European countries in 2014/15, we have included 500 participants where surgery was performed, from a total of 1040 adolescents (≥16years) and adults with a DSD. Diagnoses included Turner syndrome (n = 301), mixed gonadal dysgenesis (45,XO/46,XY; n = 45), Klinefelter syndrome (n = 218), XYY (n = 1), 46, XY DSD (n = 222) and 46, XX DSD (n = 253). Study protocol included clinical report files, an optional gynecological or urological examination, patient reported outcomes including received surgical interventions, satisfaction with appearance and function after surgery, and impact of the surgical procedure on life.
Five hundred participants had received genital or breast surgery, with the highest rate in 46, XY DSD and the lowest in Turner syndrome. Altogether; 240 participants had feminizing surgery, 112 had masculinizing surgery, and 217 underwent gonadectomy. Physicians evaluated anatomical appearance at genital examination as poor in less than 10%. Dissatisfaction with anatomical appearance was reported by 22% of the participants, dissatisfaction with function by 20%. Being (very) dissatisfied with anatomical appearance and function was reported by 13% of the study participants. Most participants reported no impact, or positive impact, of the surgical procedures on their lives, but 29% experienced a negative effect of gonadectomy on their life.
There might be a selection bias and/or a recall bias for participating in our studies. Due to poor data quality about surgical procedures performed in the past, we also relied on participants memory about surgical procedures in their past. Ideally, patient reported outcomes should be evaluated both before and after surgical procedures.
A vast majority are satisfied with appearance and function, but still genital or breast surgery have a long-lasting effect on patient's life. Self-reported satisfaction is usually lower than the observer's evaluation regarding both appearance and function.
Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study
2020, Journal of Pediatric Urology
Disorders/differences of sex development (DSD) are congenital conditions in which there is atypical chromosomal, gonadal and/or phenotypic sex. While there remains controversy around the traditionally binary concept of sex, most patients with DSD are reared either male or female depending on their genetic sex, gonadal sex, genital phenotype and status of their internal genital tract. This study uses prospective data from 12 institutions across the United States that specialize in DSD care. We focused on patients raised female. Eligible patients had moderate to severe genital atypia (defined as Prader score >2), were ≤2 years of age at entry, and had no prior genitoplasty. The aim of this study is to describe early post operative complications for young patients undergoing modern approaches to feminizing genitoplasty. Of the 91 participants in the cohort, 57 (62%) were reared female. The majority had congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (n = 52), 1 had ovo-testicular syndrome, 2 had mixed gonadal dysgenesis and 2 had partial androgen insensitivity syndrome (PAIS). Of the 50 participants who received early genitoplasty, 43 (86%) had follow-up at 6–12 months post-surgery. Thirty-two participants (64%) received a clitoroplasty, 31 (62%) partial urogenital mobilization and 4 (8%) total urogenital sinus mobilization. Eighteen percent (9/50) experienced post-surgical complications with 7 (14%) being rated as Clavien-Dindo grade III. Both parents and surgeons reported improved satisfaction with genital appearance of participants following surgery compared to baseline. This information on post-operative complications associated with contemporary approaches to feminizing genitoplasty performed in young children will help guide families when making decisions about whether or not to proceed with surgery for female patients with moderate to severe genital atypia.
Protecting children with intersex traits: legal, ethical, and human rights considerations
2020, The Plasticity of Sex: The Molecular Biology and Clinical Features of Genomic Sex, Gender Identity and Sexual Behavior
Some physicians believe that medically unnecessary cosmetic surgeries on infants with intersex traits provide a psychosocial benefit that outweighs the risks to the child undergoing the surgery. Many experts in medicine and other disciplines have called for a delay of these procedures because no comprehensive studies show that they result in a psychological benefit, much less a benefit that outweighs the reported physical and emotional risks.
In the absence of comprehensive outcome studies proving which approach is correct, the law, as viewed through a human rights lens, may help shed light on how legal institutions and treatment teams should proceed. A growing number of governments and NGOs have found that these surgeries violate children’s fundamental human rights. Additional legal institutions are considering whether to adopt similar resolutions and laws calling for a delay in these procedures until the patient is able to consent or assent to the treatment.
In the absence of specific legal guidance, treatment teams should ensure that the procedures they adopt protect the fundamental human rights of their patients. First, they should seek a court order authorizing medically unnecessary surgeries that may affect reproductive and other fundamental interests. Second, the treatment team must ensure that parents are given complete information, including the fact that they are authorizing a treatment that a number of governments and organizations have found to be a violation of the child’s basic human rights. Finally, after the treatment team determines that the condition poses no immediate or future health risks, the team should be guided by mental health experts (as opposed to medical experts), as well as people with intersex traits and their parents, who are in a better position to help parents reach the decision that is most likely to lead to the best psychosocial outcome for the children.
Preliminary report: Surgical outcomes following genitoplasty in children with moderate to severe genital atypia
2018, Journal of Pediatric Urology
Citation Excerpt :
Cosmetic outcomes, as rated by both surgeons and parents, at 12 months post-genitoplasty are reported. It has previously been reported that surgeons and parents rated cosmetic outcomes as satisfactory or good 6 months after genitoplasty [14]. It was hypothesized that cosmetic outcomes would remain stable over the follow-up period for all raters.
Prior studies of outcomes following genitoplasty have reported high rates of surgical complications among children with atypical genitalia. Few studies have prospectively assessed outcomes after contemporary surgical approaches.
The current study reported the occurrence of early postoperative complications and of cosmetic outcomes (as rated by surgeons and parents) at 12 months following contemporary genitoplasty procedures in children born with atypical genitalia.
This 11-site, prospective study included children aged ≤2 years, with Prader 3–5 or Quigley 3–6 external genitalia, with no prior genitoplasty and non-urogenital malformations at the time of enrollment. Genital appearance was rated on a 4-point Likert scale. Paired t-tests evaluated differences in cosmesis ratings.
Out of 27 children, 10 were 46,XY patients with the following diagnoses: gonadal dysgenesis, PAIS or testosterone biosynthetic defect, severe hypospadias and microphallus, who were reared male. Sixteen 46,XX congenital adrenal hyperplasia patients were reared female and one child with sex chromosome mosaicism was reared male. Eleven children had masculinizing genitoplasty for penoscrotal or perineal hypospadias (one-stage, three; two-stage, eight). Among one-stage surgeries, one child had meatal stenosis (minor) and one developed both urinary retention (minor) and urethrocutaneous fistula (major) (Summary Figure). Among two-stage surgeries, three children developed a major complication: penoscrotal fistula, glans dehiscence or urethral dehiscence. Among 16 children who had feminizing genitoplasty, vaginoplasty was performed in all, clitoroplasty in nine, external genitoplasty in 13, urethroplasty in four, perineoplasty in five, and total urogenital sinus mobilization in two. Two children had minor complications: one had a UTI, and one had both a mucosal skin tag and vaginal mucosal polyp. Two additional children developed a major complication: vaginal stenosis. Cosmesis scores revealed sustained improvements from 6 months post-genitoplasty, as previously reported, with all scores reported as good or satisfied.
In these preliminary data from a multi-site, observational study, parents and surgeons were equally satisfied with the cosmetic outcomes 12 months after genitoplasty. A small number of patients had major complications in both feminizing and masculinizing surgeries; two-stage hypospadias repair had the most major complications. Long-term follow-up of patients at post-puberty will provide a better assessment of outcomes in this population.
In this cohort of children with moderate to severe atypical genitalia, preliminary data on both surgical and cosmetic outcomes were presented. Findings from this study, and from following these children in long-term studies, will help guide practitioners in their discussions with families about surgical management.

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View full text

Prospective assessment of cosmesis before and after genital surgery

Summary

Introduction

Objective

Study design

Results

Discussion

Conclusion

Introduction

Section snippets

Participants

Diagnosis and sex of rearing

Discussion

Conclusion

Conflicts of interest

Ethics approval

Acknowledgements

J Urol

J Urol

J Pediatr Adolesc Gynecol

Lancet

J Pediatr Surg

J Urol

J Urol

Consensus statement on management of intersex disorders. International Consensus Conference on Intersex

Pediatrics

Epidemiology and initial management of ambiguous genitalia at birth in Germany

Horm Res

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline

J Clin Endocrinol Metab