Ambiguous genitalia is a matter of concern and needs thorough evaluation and treatment. Gonadectomy becomes a potentially lifesaving procedure in patients with partial androgen insensitivity due to the increased risk of malignancy if left undiagnosed. We present a case report of two patients in their late 20s and 30s, raised as girls, who came with complaints of primary amenorrhea with ambiguous genitalia. Both patients had features of masculinization. Her MRI revealed an absent uterus, cervix, upper 2/3 of the vagina, and ovaries, with the presence of bilateral testicles. She was diagnosed with partial androgen insensitivity syndrome. The first patient underwent bilateral gonadectomy with hernia repair and nerve-sparing reduction clitoroplasty with labioplasty. She is under close follow-up with a further plan for augmentation mammoplasty. The second patient, however, refused clitoroplasty and underwent bilateral gonadectomy. Androgen insensitivity syndrome is an X-linked inheritance with a mutation in the AR gene. It consists of a spectrum of conditions ranging from complete insensitivity to less insensitivity towards testosterone, which results in a complete, partial, and mild form of androgen insensitivity syndrome. Studies have been done on cosmetic outcomes after genitoplasty in children with genital atypicalities, which showed significant improvement (p<0.001) and no difference in ratings by parents and surgeons. Surgeries done on patients with partial androgen insensitivity syndrome are not only lifesaving procedures, but with reasonable reassurance, these aesthetic surgeries help people live a life that otherwise would have been genetically compromised.

OBJECTIVE: The timing of surgery for congenital adrenal hyperplasia (CAH) is contentious. We aimed to survey expert families and patients for their recommendations regarding timing of surgery for a family with a newly diagnosed CAH child.
METHODS: A Survey Monkey questionnaire was performed at the 2017 meeting of the CAH support group, \"Living with CAH\", and also sent to the members of the CAH support group. The surgical-timing responses were a Likert score from 1 (strongly disagree) to 5 (strongly agree). Data were analysed by Kruskal-Wallis test. p < 0.05 taken as significant.
RESULTS: Of the 61 respondents, 12 were CAH patients, 43 were CAH parents, 3 were physicians, 1 surgeon and 2 others. For all respondents, the Likert score was 3 for infant, toddler and adult timing of surgery (neutral), not statistically significant (ns). For parents and/or children who had surgery (n = 26), the score was 4 (3-5) for infant vs. 4 (3-4) for toddler-years vs. 2 (1-3) for adulthood. This was statistically significant (p = 0.0002). When only patients who had CAH surgery were included, there were only 8 respondents and their scores were: infancy 3 (2-4) vs. toddler-years 4 (2-4) vs. adulthood 1 (1-4), ns.
CONCLUSIONS: Expert families and patients in the United Kingdom who have had CAH surgery, recommend surgery in the first few years of life vs. adulthood. There is a selection bias, however this may support MDTs in continuing to discuss surgery as an option in childhood.

To analyze a single-centre experience in feminizing genitoplasty in virilized girls with congenital adrenal hyperplasia (CAH).
Review of medical records of all 46, XX CAH patients undergoing single stage feminizing genitoplasty between 2003 and 2018 was performed.
A total of 31 girls aged from 4 months to 10 years were included in the study. The majority (n = 26/31, 84%) were operated before 2 years of age (median 8 months). External virilization was rated as Prader 3 (n = 7/31), Prader 4 (n = 21/31) and Prader 5 (n = 3/31). The urethrovaginal confluence location was low in 19 and high in 12 girls with a percentage distribution similar in Prader 4 and 5 (p > 0.05) but significantly different in Prader 3 (p = 0.017). The follow-up ranged from 12 months to 15 years. All parents assessed the cosmetic result as satisfactory. Perioperative complications occurred in two patients and included rectal injury (n = 1/31) and prolonged bleeding (n = 1/31). Three patients developed late complications including labial atheromas (n = 2/31) and vaginal stricture requiring surgical dilatation (n = 1/31). Low confluence did not decrease the risk of complications.
Early feminizing genitoplasty in girls with congenital adrenal hyperplasia, irrespective of virilization severity, gives satisfactory cosmetic results and is characterized by low and acceptable surgical risk. Nevertheless, the most important determinant of the effectiveness of such management would be future patients\' satisfaction.

Background: Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing genitoplasty and timing of the surgery in this population. Objective: To investigate outcomes of females 46,XX individuals with CAH in Malaysia, the surgical outcomes of feminizing genitoplasty (FG) and their attitudes toward surgery. Study Design: This is a cross-sectional study involving the two main tertiary centers in Malaysia. All 46,XX patients with CAH and raised female, who had undergone FG were identified and invited to participate. Data on socio-demographic, medical profiles, and attitudes toward surgery were collected. A standardized evaluation of the external genitalia was undertaken including the anatomic and cosmetic evaluation by independent gynecologists. Results: Of 61 individuals identified, 59 participated-consisting of children (n = 12), adolescents (n = 29) and adults (n = 18). All but one had classical CAH (98.3%) and had undergone FG (n = 55, 93.2%) with surgery mostly undertaken by pediatric surgeons trained in DSD work (n = 44, 74.6%). Complications overall were low (20.3%), with repeat surgery rate of 9.1%. External genital examination was performed in 38 participants. Overall 36.8% had absent clitoral glands and 39.5% had a persistent urogenital sinus and in 10.5%, no vaginal orifices were seen. Poor cosmetic outcomes were present in 42.1% with 55.3% recommended for further assessment under general anesthetic. Almost half participants did not venture an opinion on FG, those who did varied from having a positive attitude toward it (18 participants) to 3 opining that it should not be done, or avoided or delayed. From the participants, 35.5% preferred FG to be done early in life compared to 44.0% of the parents. Conclusions: The reoperation rates of the feminizing genitoplasty surgeries were low however due to the anatomic and cosmetic outcomes, reassessment of the external genitalia of these CAH patients may be required once they consider becoming sexually active as they may require further treatment. Many factors such as cultural sensitivities and access to medical treatment and late diagnoses have an impact on attitudes toward FG.

To explore the indication and effectiveness of urogenital sinus surgery in feminizing genitoplasty of disorder of sex development (DSD).
A retrospective analysis was made on clinical data from 22 patients with DSD who underwent one stage feminizing genitoplasty between October 2010 and December 2015. The patients\' age ranged from 1 year and 2 months to 21 years, with the median age of 2 years and 1 month. According to the Prader classification criteria, the appearance of vulvas were rated as grade Ⅰ in 7 cases, grade Ⅱ in 6 cases, grade Ⅲ in 8 cases, and grade Ⅳ in 1 case. Cystoscopy was applied before feminizing genitoplasty in all patients. Low confluence of vagina and urethra was found in 19 patients, while high confluence was found in 3 patients. The mean length of urogenital sinus was 1.6 cm (range, 0.5-3.0 cm). The mean length of water-filled vagina was 4.4 cm (range, 3.5-5.5 cm). Cervix was detected at the end of vagina in 16 patients, meanwhile absence of cervix was detected in 6 patients. The same procedures of clitoroplasty and labioplasty were used in all patients. Three procedures of urogenital sinus surgery were applied, as the \"cut-back\" vaginoplasty in 6 patients, the \"flap\" vaginoplasty in 11 patients, and the partial urogenital sinus mobilization (PUM) in 5 patients.
All procedures were completed successfully and the incisions healed by stage Ⅰ. All patients were followed up 12-74 months, with the average of 30.5 months. The outcome of appearance evaluation was excellent in 13 patients (59.1%), good in 6 patients (27.3%), and poor in 3 patients (13.6%). Urinary incontinence, post-void residual, urinary infection, and urethrovaginal fistula were not found in 17 toilet trained patients.
Urogenital sinus surgery is the most critical step in feminizing genitoplasty of DSD. It can be finished in one stage procedure with clitoroplasty and labioplasty before puberty. If thoroughly evaluation before surgery is completed and the principle of different procedures is handled, the outcome will be satisfactory.
探讨尿生殖窦成形技术在性发育异常（disorder of sex development，DSD）患者外阴女性化修复治疗中的应用指征和疗效。.
回顾性分析 2010 年 10 月—2015 年 12 月，行一期外阴女性化修复的 22 例 DSD 患者临床资料。患者年龄 1 岁 2 个月～21 岁，中位年龄 2 岁 1 个月。患者外阴按照 Prader 分级标准：Ⅰ级 7 例，Ⅱ级 6 例，Ⅲ级 8 例，Ⅳ级 1 例。外阴女性化修复前均进行膀胱镜检查，示阴道高位汇入 3 例、低位汇入 19 例；尿生殖窦长度为 0.5～3.0 cm，平均 1.6 cm；注水状态下阴道长度 3.5～5.5 cm，平均 4.4 cm；16 例阴道底部可见子宫颈样结构，6 例阴道底部为盲端。所有患者采用相同阴蒂成形和阴唇成形方式；采用 3 种尿生殖窦成形方式，其中尿生殖窦切开术 6 例，会阴皮瓣嵌入式尿生殖窦成形术 11 例，部分性尿生殖窦游离术 5 例。.
手术均顺利完成，术后切口均Ⅰ期愈合。22 例患者均获随访，随访时间 12～74 个月，平均 30.5 个月。术后 6 个月，参照 Braga 等的方式评估外阴形态，其中优 13 例（59.1%）、良 6 例（27.3%）、差 3 例（13.6%）。术后 17 例能自主排尿，均无尿失禁、膀胱残余尿、尿路感染及阴道尿道瘘发生。.
尿生殖窦成形技术是 DSD 患者外阴女性化修复治疗中的关键步骤，可在青春期前与阴蒂成形和阴唇成形同期完成。术前全面评估和准确选择手术方式，能取得良好术后外观。.

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.

BACKGROUND: Genital ambiguity is a very common phenomenon in disorders of sex development (DSD). According to the Chicago Consensus 2006, feminizing genitoplasty, when indicated, should be performed in the most virilized cases (Prader III to V). Advances in the knowledge of genital anatomy in DSD have enabled the development and improvement of various surgical techniques. Mobilization of the urogenital sinus (MUS), first described by Peña, has become incorporated by most surgeons. However, the proximity of the urethral sphincter prompts concern over urinary incontinence, especially for full mobilization of the urogenital sinus.
OBJECTIVE: To retrospectively evaluate the short-term surgical results of feminizing genitoplasty with total mobilization of the urogenital sinus in patients with DSD.
METHODS: Review of medical records of all patients undergoing feminizing genitoplasty with mobilization of the urogenital sinus. We evaluated the rates of complications from surgery and of urinary incontinence, as well as cosmetic results, according to the opinion of the surgeon and the family.
RESULTS: A total of 8 patients were included in the study. The mean age at surgery was 51months. Congenital adrenal hyperplasia (CAH) was diagnosed in six patients, and gonadal dysgenesis in the other two. The vagina was separated from the urethra, with suitable distance in all cases. No patient had urinary incontinence after surgery. The mean follow-up of patients was. 20months (3-56months). In all cases, surgeons recorded being satisfied with the aesthetic result of post-surgical genitalia. The family was recorded as satisfied with the aesthetic result of the genitalia after surgery. In every case, there was no need for a second surgical procedure.
CONCLUSIONS: The total mobilization of the urogenital sinus is a feasible and safe technique. The technique permits good cosmetic results, and urinary incontinence is absent.
METHODS: Therapeutic study.
METHODS: Level III.

BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
CONCLUSIONS: 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.

OBJECTIVE: To provide a review and summary of recent advances in the diagnosis and management of disorder(s) of sexual differentiation (DSD), an area that has developed over recent years with implications for the management of children with DSD; and to assess the refinements in the surgical techniques used for genital reconstruction.
METHODS: Recent publications (in the previous 10 years) were identified using PubMed, as were relevant previous studies, using following keywords; \'diagnosis and management\', \'ambiguous genitalia\', \'intersex\', \'disorders of sexual differentiation\', \'genitogram\', \'endocrine assessment\', \'gender assignment\', \'genitoplasty\', and \'urogenital sinus\'. The findings were reviewed.
RESULTS: Arbitrary criteria have been developed to select patients likely to have DSD. Unnecessary tests, especially those that require anaesthesia or are associated with radiation exposure, should be limited to situations where a specific question needs to be answered. Laparoscopy is an important diagnostic tool in selected patients. The routine use of multidisciplinary diagnostic and expert surgical teams has become standard. Full disclosure of different therapeutic approaches and their timing is recommended.
CONCLUSIONS: Diagnostic tests should be tailored according to the available information. Parents and/or patients should be made aware of the paucity of well-designed studies, as these conditions are rare. Unnecessary irreversible surgery should be postponed until a multidisciplinary experienced team, with the parents\' and or patients\' approval, can make a well-judged decision.

OBJECTIVE: The management of intersex patients with Y-chromosome Turner or Morris syndrome remains a challenge. We report our experience with a multicenter European survey.
METHODS: We collected the data on 18 patients (mean age 10.2 years, range 2-17 years) with Morris (10 patients) or Turner (8 patients) syndrome harboring the Y chromosome who were treated in 1 of 6 European centers of pediatric surgery between 1997 and 2013. All patients were evaluated by use of a multidisciplinary diagnostic protocol. All patients received a bilateral gonadectomy via laparoscopy; only 1 center performed ovarian cryopreservation. Seven patients received a concomitant genitoplasty. Operative notes and histology were reviewed for details.
RESULTS: No conversions to laparotomy and no complications were recorded. For the patients receiving only the gonadectomy, the length of hospital stay was 24-48 hours, whereas for the patients receiving an associated genitoplasty, it was 6-10 days. Specimens were negative for tumors in 83.3% of cases, whereas in 3 patients (16.6%), benign abnormalities (Sertoli cell hyperplasia in 1 patient and ovotestis in 2 patients) were recorded. A malignant tumor was not recorded in our series.
CONCLUSIONS: If the risk of malignancy is considered as the main indication for surgery in case of Turner or Morris syndrome, on the basis of our study, this indication should be reevaluated. However, based on the non-negligible rate of benign abnormalities reported in our series (16.6%), the performance of cryopreservation to preserve fertility and the possibility of performing genitoplasty during the same anesthetic procedure represent additional valid indications for surgery.