PDF(Pubmed)
Abstract：
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.
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.
摘要：
先前对生殖器成形术后结局的研究报道，非典型生殖器患儿的手术并发症发生率很高。很少有研究对当代手术方法后的结果进行前瞻性评估。
目前的研究报告了非典型生殖器出生的儿童在当代生殖器成形术后12个月的早期术后并发症和美容结果（由外科医生和父母评估）的发生。
这个11网站，前瞻性研究包括≤2岁的儿童，Prader3-5或奎格利3-6外生殖器，在招募时没有生殖器成形术和非泌尿生殖道畸形。生殖器外观以4分Likert量表进行评分。配对t检验评估了宇宙评级的差异。
在27个孩子中，10例46，XY患者，诊断如下：性腺发育不全，PAIS或睾酮生物合成缺陷，严重的尿道下裂和微小阴茎,是男性饲养的。1646例，XX例先天性肾上腺皮质增生症患者为女性，1例性染色体嵌合体患儿为男性。11名儿童接受了阴囊或会阴尿道下裂的男性生殖器成形术（一期，三；两阶段，八)。在一阶段手术中，1例患儿出现气孔狭窄(轻微),1例同时出现尿潴留(轻微)和尿道瘘(严重)(总结图).在两阶段手术中，三个孩子出现了一个主要的并发症：阴囊瘘，龟头开裂或尿道开裂。在16名女性化生殖器成形术的儿童中，全部进行了阴道成形术，九岁的阴蒂成形术,外生殖器成形术13例，尿道成形术4例，五分钟内围手术,和完全的泌尿生殖窦动员。两个孩子有轻微的并发症：一个有UTI，其中一人同时具有粘膜皮肤标记和阴道粘膜息肉。另外两名儿童出现了主要并发症：阴道狭窄。Cosmesis评分显示生殖器成形术后6个月持续改善，正如先前报道的那样，所有分数报告为良好或满意。
在这些来自多站点的初步数据中，观察性研究，父母和外科医生对生殖器成形术后12个月的美容结果同样满意.少数患者在女性化和男性化手术中均有重大并发症；两阶段尿道下裂修复的并发症最多。青春期后患者的长期随访将为该人群的预后提供更好的评估。
在这个患有中度至重度非典型生殖器的儿童队列中，我们提供了有关手术和美容结果的初步数据.这项研究的结果，通过跟踪这些孩子的长期研究，将帮助指导医生与家人讨论手术管理。
目前的研究报告了非典型生殖器出生的儿童在当代生殖器成形术后12个月的早期术后并发症和美容结果（由外科医生和父母评估）的发生。
这个11网站，前瞻性研究包括≤2岁的儿童，Prader3-5或奎格利3-6外生殖器，在招募时没有生殖器成形术和非泌尿生殖道畸形。生殖器外观以4分Likert量表进行评分。配对t检验评估了宇宙评级的差异。
在27个孩子中，10例46，XY患者，诊断如下：性腺发育不全，PAIS或睾酮生物合成缺陷，严重的尿道下裂和微小阴茎,是男性饲养的。1646例，XX例先天性肾上腺皮质增生症患者为女性，1例性染色体嵌合体患儿为男性。11名儿童接受了阴囊或会阴尿道下裂的男性生殖器成形术（一期，三；两阶段，八)。在一阶段手术中，1例患儿出现气孔狭窄(轻微),1例同时出现尿潴留(轻微)和尿道瘘(严重)(总结图).在两阶段手术中，三个孩子出现了一个主要的并发症：阴囊瘘，龟头开裂或尿道开裂。在16名女性化生殖器成形术的儿童中，全部进行了阴道成形术，九岁的阴蒂成形术,外生殖器成形术13例，尿道成形术4例，五分钟内围手术,和完全的泌尿生殖窦动员。两个孩子有轻微的并发症：一个有UTI，其中一人同时具有粘膜皮肤标记和阴道粘膜息肉。另外两名儿童出现了主要并发症：阴道狭窄。Cosmesis评分显示生殖器成形术后6个月持续改善，正如先前报道的那样，所有分数报告为良好或满意。
在这些来自多站点的初步数据中，观察性研究，父母和外科医生对生殖器成形术后12个月的美容结果同样满意.少数患者在女性化和男性化手术中均有重大并发症；两阶段尿道下裂修复的并发症最多。青春期后患者的长期随访将为该人群的预后提供更好的评估。
在这个患有中度至重度非典型生殖器的儿童队列中，我们提供了有关手术和美容结果的初步数据.这项研究的结果，通过跟踪这些孩子的长期研究，将帮助指导医生与家人讨论手术管理。
