Search

Congenital adrenal hyperplasia (CAH) is the most common cause of genital atypia in females. A dedicated multidisciplinary team (MDT) should be included for an optimal management. Here, we aimed to review our surgical experience and to assess long-term urinary, gynecological and endocrine outcomes after primary genitoplasty in this specific cohort. Patients born with CAH and who underwent feminizing genitoplasty in our institution were retrospectively identified (2001–2021). We analyzed patients' characteristics, intraoperative details, and postoperative urinary, gynecological, and endocrine outcomes. Forty patients were included and followed-up for a median (IQR) time of 7 (1–19) years. Thirty-eight (95%) had 21-hydroxylase deficiency. After multidisciplinary decision and written consent from patient and/or family, a single-stage reconstructive surgery was performed at a median age of 10 (3–165) months. Median length of hospital stay was 5 (1–7) days. Procedures were: PUM (N = 35 (87.5%)), TUM (N = 3 (7.5%)), urogenital mobilization was unnecessary in 2 (5%). Reduction clitoroplasty was done in 33 (82.5%) patients. Only 3 (7.5%) experienced significant Clavien-Dindo complications requiring additional surgery during the follow-up period. Recurrent urinary tract infections (UTI) occurred in 6 (15%), one required ureteric reimplantation for symptomatic high-grade vesicoureteric reflux. All patients over 3 years were toilet-trained without incontinence. Severe vaginal stenosis occurred in 1 (2.5%) patient. In patients who achieved puberty, 6/9 had vaginal calibration at a median age of 17.3 (16–21) years without detected stenosis. One (2.5%) had major hypertrophy of the right labia minora requiring labiaplasty. Nine (22.5%) reached puberty. Two (5%) patients developed acne/hirsutism. Short stature was noted in 11 (27.5%) and obesity in 18 (45%). Based on our contemporary series, genitourinary reconstructive surgery for female patients born with CAH is technically feasible and safe with a low complication rate. A regular follow-up with a MDT to assess long-term complications is necessary, and it is vital to inform patients and families about the different management options with all the risks and benefits of surgery. original research, clinical research. Level 3 retrospective study. • Long-term outcomes experienced by female patients born with CAH who had complex genito-urinary surgery using contemporary techniques, are insufficiently reported in the literature • Single stage reconstructive genitourinary surgery in CAH patients has low complications rate under the condition that they are managed in a reference center with optimal multidisciplinary follow-up. [ABSTRACT FROM AUTHOR]

Background: Disorders of Sexual Development (DSD) encompass congenital conditions with inconsistencies between sex chromosomes, gonads, and sexual anatomy. This study aimed to evaluate the outcomes of a genitoplasty technique in DSD patients, focusing on functionality and cosmetics. Methods: A prospective cohort case series was conducted at a university hospital in Riyadh, Saudi Arabia. Ten DSD patients underwent genitoplasty procedures with excision of the urogenital membrane and use of the local flap of labia minora for reconstruction. Data, including demographic information, operative findings, and immediate and delayed postoperative information, were collected. Results: The single-stage genitoplasty technique demonstrated improved delayed cosmetic outcomes. Patients undergoing single-stage genitoplasty with excision of urogenital membrane and use of local flap of labia minora for reconstruction. This approach yielded superior long-term aesthetic outcomes, eliminating the need for additional surgeries. Conclusion: The new novel technique showed delayed satisfactory cosmetic outcomes compared to the previous one. Additionally, the new technique significantly reduced the need for subsequent interventions, such as second genitoplasty. These findings support the potential benefits of the new novel technique in improving long-term outcomes for individuals with DSD. [ABSTRACT FROM AUTHOR]

Introduction: In view of the modifications in the endocrine society guidelines on evaluation and management of children with congenital adrenal hyperplasia (CAH), we performed a review of children and adolescents with CAH. Material and methods: An audit of 35 children with CAH presenting to the pediatric endocrinology clinic between January 2014 to November 2021 was conducted by formulating ten audit questions. The areas of focus included: genital reconstructive surgery, neonatal screening for CAH, stress dosing, need for adrenocorticotrophic hormone (ACTH) stimulation test, growth promoting therapy, bone age assessment, adrenal imaging, bone mineral density assessment, adequacy of hormone replacement and appropriate management of non-classical CAH. Results: Conservative approach to genitoplasty in female children increased from 42.9% to 88.9%. Newborn screening identified 4 babies including two asymptomatic males averting saltwasting crisis. Stress dosing of steroids were advised in all and emergency usage of injectable glucocorticoids was warranted in two children. Gonadotropin-releasing hormone (GnRH) analogue therapy improved the final median predicted height by 7 cm in 5 children. Twenty-three (65.7%) had bone age assessment with 14 (40%) having advanced bone age. ACTH stimulation test, Adrenal imaging, dual energy X-ray absorptiometry (DEXA) scan were done in accordance with the guideline. One child with nonclassical CAH was initiated on hydrocortisone replacement for advanced bone age. Conclusions: A shift to conservative surgical management of females, utility of neonatal screening for CAH, judicious use of growth promoting therapy is highlighted. Need for bone age testing, emergency hydrocortisone provision is warranted in our series. [ABSTRACT FROM AUTHOR]

Supplemental Digital Content is available in the text Objective: To perform the first systematic review of all available GAS publications across all procedures to assess outcomes reported in the literature and the methods used for outcome assessment. Summary of Background Data: Assessment of GAS results is complex and multidimensional, involving not only complication rates but also anatomic (eg, vaginal depth), functional (eg, urinary), and psychosocial outcomes. A fully comprehensive aggregation of all prior research would offer an essential cornerstone for continued progress. Methods: A systematic review was performed after PRISMA guidelines to identify all outcomes measures in GAS cohorts, including patient-centered outcomes, complications, and functional outcomes. Data were aggregated to assess pooled rates of complications, satisfaction, and other outcomes. Results: Overall, 15,186 references were identified, 4162 papers advanced to abstract review, and 1826 underwent full-text review. After review, there were 406 GAS cohort publications, including 171 vaginoplasty, 82 phalloplasty, 16 metoidioplasty, 23 oophorectomy/vaginectomy, and 21 with multiple procedures. Although 68.7% of genitoplasty papers addressed patient-centered outcomes, only 1.0% used metrics validated in the transgender population. Forty-three different outcome instruments were used. No instrument was used in more than 15% of published series and 38 were used in only 1 or 2 publications. Conclusions: Our review found high patient satisfaction for genital procedures but little concordance between study methods, with almost 90% of patient-focused outcome metrics appearing only once or twice. Standardization of outcome instruments and measurement methods through patient-inclusive, multidisciplinary consensus efforts is the essential next step for quality improvement. As GAS continues to mature, building on current foundations with the goal of improving both surgical and patient-reported outcomes is essential. [ABSTRACT FROM AUTHOR]

Purpose: 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.Conclusion: 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. [ABSTRACT FROM AUTHOR]

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.

Background: Congenital adrenal hyperplasia (CAH) is a chronic disorder causing adrenal insufficiency and hyperandrogenism affecting the quality of life (QOL). The objective of the study was to assess the health-related QOL (HRQOL) in Egyptian children and adolescents with CAH and to identify factors affecting it. Methods: This cross-sectional study included 200 CAH patients (with 21-hydroxylase deficiency [21-OHD]) who were assessed according to their age, sex, clinical phenotype, timing of genitoplasty, hospital admissions within the last year, compliance to treatment, regularity of follow-up, presence of complications and hormonal control. HRQOL was assessed using the World Health Organization (WHO)QOL-BREF questionnaire with four domains analyzed independently including physical, psychological, social and environmental domains, with higher scores indicating better QOL. Results: The study included 140 females and 60 males with a mean age of 6.6 ± 4.5 years, and 88% were salt-wasting (SW). Older patients had significantly lower QOL scores (r = − 0.151, p = 0.033). The physical domain correlated significantly with the degree of virilization (r = − 0.491, p = 0.001) and frequency of hospitalization (r = − 0.495, p < 0.001). The psychological domain was affected by age (r = − 0.157, p = 0.026) and timing of genitoplasty (r = − 0.326, p = 0.001), while the social domain was affected by age (r = −0.277, p < 0.005) and pubertal stage (r = − 0.195, p = 0.006). Females had lower scores at the psychological domain (p < 0.001), whereas males had lower scores at the physical domain (p = 0.003). Salt-losing patients had lower scores at the physical domain (p = 0.001). Patients with good hormonal control had higher scores at the physical domain (p = 0.03). Genitoplasty affected both psychological and social domains (p = 0.003 and 0.01, respectively). Patients with hypertension and hirsutism had lower QOL scores (p < 0.05). Conclusions: HRQOL was relatively more affected in CAH patients with older age, poor hormonal control, high frequency of hospital admissions and those who developed complications. [ABSTRACT FROM AUTHOR]

Recent proposed changes to legislation create a risk that children and adults who have been traditionally classified as "intersex" may begin to see more barriers to obtaining medical and surgical treatment. This will also create barriers to medical professionals, creating a more holistic understanding of intersexuality. [ABSTRACT FROM AUTHOR]

Introduction 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 51 months. 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. 20 months (3–56 months). 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. Conclusion The total mobilization of the urogenital sinus is a feasible and safe technique. The technique permits good cosmetic results, and urinary incontinence is absent. Type of study Therapeutic study. Level of evidence Level III. [ABSTRACT FROM AUTHOR]

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., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Agarwal et al.)

Study 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. Design 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. Conclusion 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. [ABSTRACT FROM AUTHOR]

One of the most common problem found in patients with Disorders of Sexual Developments (DSD) is the absence or extreme hypoplasia of the vagina. The type of patients presenting this anomaly may belong to complete different groups: - patients with a urogenital sinus with urethra and vagina fusing together to form a common channel- patients with absent Müllerian structures and different degrees of external virilisation- complex malformationsTreatment options: Treatment of these patients is under discussion and may consist, basically, in non-operative dilation methods or surgical creation of a neo-vagina. Consensus is far to be reached among the various surgical subspecialties regarding the optimal method of vaginal replacement. Adequate number of long term follow up patients are still non available so that most conclusions are based on small number series. The authors describe the different treatment options in detail.

Abstract: Objectives: 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 10years) 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. [Copyright &y& Elsevier]

One of the most common problem found in patients with Disorders of Sexual Developments is the absence or extreme hypoplasia of the vagina. The type of patients presenting this anomaly may belong to completely different groups: (1) Patients with a urogenital sinus with urethra and vagina fusing together to form a common channel. (2) Patients with absent Müllerian structures and different degrees of external virilization. (3) Complex malformations. Treatment options: treatment of these patients is under discussion and may consist, basically, in non-operative dilation methods or surgical creation of a neovagina. Consensus is far to be reached among the various surgical subspecialties regarding the optimal method of vaginal replacement. Adequate number of long-term follow up patients are still non-available so that most conclusions are based on small number series. The authors describe the different treatment options in detail. [ABSTRACT FROM AUTHOR]

Purpose: Disorders of sex (DSD) development represent a serious condition. Most of the underlying mechanisms remain unclear. Disturbances within the androgen receptor (AR) pathway frequently account for 46 XY-DSDs. The individual gender-related outcome often is unsatisfactory. We present a long-term AR gene-mutation-associated follow-up in a group of 46 XY-DSD patients. Methods: Twenty patients (46 XY) who underwent genitoplasty in infancy or early childhood were retrospectively identified. Median follow-up after surgery was 16 years. All were undervirilized at initial presentation. Thirteen had female gender assignment, and 7 were raised as males. A genital skin biopsy and subsequent fibroblast cultures were done. The specific binding of dihydrotestosterone, the thermostability of the receptor hormone complex, and 5-α-reductase activity were measured. AR gene mutations were detected by direct sequencing. The individual outcome was correlated with specific AR mutations. Results: AR point mutations were detected in 12, 7 were previously unknown. There was no specific androgen binding in 3, reduced affinity in 9, and normal binding in 8 patients. 5-α-Reductase activity was normal in 15, reduced in 4 and completely absent in 1 patient. Conclusions: Retrospective evaluation revealed previously unknown and established AR gene mutations being associated with a distinct long-term outcome. Identification of the molecular mechanisms causing DSD will likely improve timely diagnosis and therapy. Exact characterization of AR activation and function may offer a treatment modality in affected patients. These data may allow us to give prognostic estimations on the individual outcome adding objective criteria for gender assignment in 46 XY-DSD patients. [ABSTRACT FROM AUTHOR]

Eighty percent of intersex cases are due to congenital adrenal hyperplasia (CAH) where the genitalia and/or the secondary sex characters do not allow a gender classification. There is prenatal and postnatal androgen excess in CAH due to a defect in the genes of the enzymes responsible for steroidogenesis. The most common cause of CAH, 21-hydroxilase deficiency, is associated with the masculinization of genitalia and behavior. In 46 XX CAH cases the common practice is to re-reassign the newborn's gender as female, even in cases with severe virilization. However, there is no consensus in terms of gender reassignment for the cases that were diagnosed at a later period in their lives. In some 46 XX CAH cases, which were diagnosed after the age of 2 and reassigned as female, gender disphoria has been reported and some of these cases have chosen to lead their lives as male. In this paper gender re-reassignment in a case of 46 XX congenital adrenal hyperplasia with former feminizing genitoplasty has been discussed in terms of the reasons, such as the degree of virilization, gender of rearing, timing of the genitoplasty and androgen excess, behind maladaptation to female gender along with similar cases from the literature. [ABSTRACT FROM AUTHOR]

Purpose: To study the gender assignment and hormonal treatment advocated for disorders of sexual differentiation (DSD).Methods: A study was done on patients who were reviewed in the Pediatric Intersex Clinic to evaluate the pattern of gender assignment and hormonal treatment advocated.Results and Conclusion: The patients included male pseudohermaphrodite (MPH) 169; congenital adrenal hyperplasia (CAH) 91; mixed gonadal dysgenesis (MGD) 29; true hermaphrodite (TH) 25; pure gonadal dysgenesis (PGD) 2; persistent mullerian duct syndrome (PMDS) 2 and others (micropenis, severe hypospadias with cryptorchidism, 46XX male) 39. Out of 91 cases of CAH, 70 (76.9%) were on steroids (prednisolone, hydrocortisone) and/or mineralocorticoids (fluoricortisone) for adrenal suppression. Out of 146 cases of male pseudohermaphrodite and 21 cases of true hermaphrodite and 3 cases of mixed gonadal dysgenesis reared as males, testosterone was given for local application for phallic growth in 101 and/or as systemic injection for mental makeup after puberty in 41 cases. Systemic testosterone injection was also given for 7 cases of CAH reared as males. Out of 26, 15 cases with mixed gonadal dysgenesis and one out of 2 cases of pure gonadal dysgenesis that attained puberty after being reared as females, after female genitoplasty, were given conjugated oestrogen (Premarin) supplemented with progesterone, as the uterus was preserved. For 12 post-pubertal cases of complete androgen insensitivity syndrome (AIS), only premarin was given as there was no uterus. Growth hormone and Gn RH analogue was given in 2 patients with CAH to tide over the early bone maturation induced by hormones with equivocal results. Thus judicious hormonal supplementation based upon type of DSD and gender assigned can provide a psychological and cosmetic benefit to patients with DSD. [ABSTRACT FROM AUTHOR]

Abstract: Introduction: Approximately one in 2000 children globally is born with an intersex condition. There is unfortunately a relative paucity of data on the choices and the surgical and psychosocial outcomes in patients who undergo genital surgery for intersex conditions and ambiguous genitalia, especially in developing countries. Specialists in these and other countries, where patient follow-up is generally poor, are faced with the daunting task of offering the appropriate medical and surgical management, in the absence of guidelines or recommendations. Surgical considerations: A surgical procedure in these patients sometimes involves clitoral recession, reduction, vaginoplasty, and gonadectomy. The best surgical outcome is likely to be achieved with a multidisciplinary surgical team; however, the choice of surgery and appropriate timing remains controversial. Some authors have suggested delaying surgery until the child becomes competent to make his/her own decisions. Legal/Ethical Considerations: All procedures should conform to an ethical code of practice and be in the interest of the child. Exhaustive counseling of all parties and informed consent is of paramount importance, as is adherence to laws that protect the rights of the child as outlined in respective constitutions. Recommendations: Recommendations in this article, which have been put together from the combined input of three departments, are broad-based. They emphasize the need for extensive counseling, informed consent, adherence to ethical and legal norms, a multidisciplinary input and a shift away from a paternalistic approach. [Copyright &y& Elsevier]

Summary The adrenogenital syndrome is an autosomal recessive disorder in which an enzyme defect in the steroid pathway leads to excessive prenatal exposure of androgens. In the female fetus, masculinization of the external genitalia is observed. Surgery aims for functional and aesthetical reconstruction. Many techniques have been described. A video of our modified pull-through reconstruction technique is hereby presented. A retrospective descriptive database was created with patients who underwent genitoplasty for a CAH-associated genital condition. A video demonstrating the reconstructive technique was recorded while operating on a 9-month-old girl. Prior to surgery a cystoscopy is performed to evaluate the length of the urogenital sinus. Surgery starts with creating a reversed U-flap, after which the urogenital sinus is mobilized. The corpora cavernosa are released and the neurovascular bundle is isolated. To create vaginal space the urogenital sinus is subsequently separated. The vaginal introitus is anchored to the perineal skin flap. Labia minora are created by splitting the preputial skin. Finally excessive skin tissue is resected. Twenty-two female patients underwent reconstructive surgery for the adrenogenital syndrome in a tertiary referral centre over 16 years. Median age at surgery was 3 months (0–190). Median follow-up was 36 months (0–108) after surgery. A good functional and aesthetical outcome was observed. The modified pull-through technique, illustrated by this video, provided satisfactory results with a low complication rate. Follow-up until adulthood is needed to evaluate long-term outcomes. [ABSTRACT FROM AUTHOR]

Aim: To analyze a single-centre experience in feminizing genitoplasty in virilized girls with congenital adrenal hyperplasia (CAH)., Methods: Review of medical records of all 46, XX CAH patients undergoing single stage feminizing genitoplasty between 2003 and 2018 was performed., Results: 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., Conclusions: 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.