Krege Susanne, Falhammar Henrik, Lax Hildegard, Roehle Robert, Claahsen-van der Grinten Hedi, Kortmann Barbara, Duranteau Lise, Nordenskjöld Agneta
Department of Urology, Pediatric Urology and Urooncology, Kliniken Essen Mitte, 45136 Essen, Germany.
Department of Endocrinology, Karolinska University Hospital, 171 77 Stockholm, Sweden.
J Clin Med. 2022 Aug 8;11(15):4629. doi: 10.3390/jcm11154629.
Representatives for congenital adrenal hyperplasia (CAH) continue to desire early feminizing surgery in girls with 46,XX-CAH. The aim of this analysis, which included 174 46,XX- individuals with salt-wasting (SW) or simple-virilizing (SV) CAH, a female gender identity, and an age > 16 years participating in a multicenter cross-sectional clinical evaluation study (dsd-LIFE), was to evaluate the long-term results of surgery and patient-reported outcomes (PRO). The gynecological examination (n = 84) revealed some shortcomings concerning surgical feminization. A clitoris was absent in 9.5% of cases, while a clitoral hood was missing in 36.7% of cases. Though all women had large labia, they didn’t look normal in 22.6% of cases. Small labia were absent in 23.8% of cases. There was no introitus vaginae, and the urethra and vagina had no separate opening in 5.1% of cases. A mucosal lining was missing in 15.4% of cases. Furthermore, 86.2% of the women had scars at the region of their external genitalia. A vaginal stenosis was described in 16.5% of cases, and a meatal stenosis was described in 2.6% of cases. Additionally, PRO data showed a very-/high satisfaction rate of 21.3%/40.2% with cosmesis and 23.8%/38.1% with functionality, while 3.3%/10.7% showed a very-/low satisfaction with cosmesis as well as 5.6%/10.3% with functionality. The remaining women—24.6% and 23.8%—were indifferent. Satisfaction concerning sex life was very-/high in 9.6%/27.7%. In 12.0%/16.9% it was very-/low. Furthermore, 33.7% had no opinion. Furthermore, 27.0%/31.6% of the women reported that clitoriplasty, but not clitoridectomy, had a very-/positive influence on their lives, while 1.3%/8.9% felt it to be very-/negative, and 28.4% were indifferent. Vaginoplasty had a very-/positive influence in 25.7%/33.8% and a very-/negative effect in 3.6%/6.8%. 29.7% had no opinion. Additionally, 75.7% of the women preferred feminizing surgery during infancy/childhood, especially concerning clitoreduction. In conclusion, though the majority of the participants (76%) preferred early feminizing surgery and 60% described a positive effect on their lives, about 10% felt it to have been negative. About 15% of the women suffered from insufficient cosmesis and functionality after surgery. Sex life was even described as poor in nearly 30%. Therefore, the decision about early genital surgery in 46,XX-CAH girls should be considered carefully. Parents should get detailed information about possible complications of surgery and should receive support to understand that postponing surgery does not inevitably cause harm for their child. Importantly, genital surgery when performed in children should only be performed in expert centers with a specialized team including surgeons who are trained in feminizing surgery.
先天性肾上腺皮质增生症（CAH）的代表们仍希望对患有46,XX-CAH的女孩尽早进行女性化手术。本分析纳入了174例患有失盐型（SW）或单纯男性化型（SV）CAH、女性性别认同且年龄大于16岁并参与一项多中心横断面临床评估研究（dsd-LIFE）的46,XX个体，旨在评估手术的长期结果以及患者报告的结局（PRO）。妇科检查（n = 84）显示手术女性化存在一些不足之处。9.5%的病例阴蒂缺失，36.7%的病例阴蒂包皮缺失。尽管所有女性大阴唇都较大，但22.6%的病例看起来不正常。23.8%的病例小阴唇缺失。5.1%的病例没有阴道开口，尿道和阴道没有分开开口。15.4%的病例缺乏黏膜内衬。此外，86.2%的女性外生殖器区域有疤痕。16.5%的病例描述有阴道狭窄，2.6%的病例描述有尿道口狭窄。此外，PRO数据显示，21.3%/40.2%的患者对美容效果非常满意/高度满意，23.8%/38.1%的患者对功能非常满意/高度满意，而3.3%/10.7%的患者对美容效果非常不满意/低度满意，5.6%/10.3%的患者对功能非常不满意/低度满意。其余24.6%和23.8%的女性表示无所谓。9.6%/27.7%的患者对性生活非常满意/高度满意。12.0%/16.9%的患者对性生活非常不满意/低度满意。此外，33.7%的患者没有看法。此外，27.0%/31.6%的女性报告说阴蒂成形术而非阴蒂切除术对她们的生活有非常积极/积极的影响，而1.3%/8.9%的女性认为其有非常消极/消极的影响，28.4%的女性表示无所谓。阴道成形术在25.7%/33.8%的患者中有非常积极/积极的影响，在3.6%/6.8%的患者中有非常消极/消极的影响。29.7%的患者没有看法。此外，75.7%的女性更喜欢在婴儿期/儿童期进行女性化手术，尤其是阴蒂缩小术。总之, 尽管大多数参与者（76%）更喜欢早期女性化手术，60%的人描述这对她们的生活有积极影响，但约10%的人认为这有负面影响。约15%的女性术后美容效果和功能不足。近30%的人甚至将性生活描述为不佳。因此，对于46,XX-CAH女孩早期生殖器手术的决定应谨慎考虑。父母应获得有关手术可能并发症的详细信息，并应得到支持，以理解推迟手术不一定会对孩子造成伤害。重要的是，儿童期进行生殖器手术应仅在有专门团队的专家中心进行，该团队包括接受过女性化手术培训的外科医生。
