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INTRODUCTION: Clitoroplasty constitutes an important step in feminizing surgery for congenital adrenal hyperplasia (CAH) (1). In this video we present a technique that aims to preserve clitoral sensitivity and engorgement while minimizing the risk of neurovascular lesion. MATERIALS AND METHODS: We present a video of a three-year-old girl with history of CAH classical form, PRADER-III, who underwent clitoroplasty. After an initial endoscopic evaluation of the urogenital sinus, the clitoris was degloved and a rectangular incision was made on the ventral corpora cavernosa 15mm above the corpora bifurcation and 0.5 mm below the coronal sulcus. The cavernous tissue was partially resected. The upper and lower borders of the rectangular gap were closed by a 5-0 PDS running suture similar to the Mikulicz technique. Next, the edge of the glans was deepithelialized to reduce its size. For improved clitoral positioning, the clitoris was sutured to the pubic fat. From that point onward the procedure followed that of a standard vaginoplasty using the en-bloc technique (2-4). Thus far we have performed this technique in 33 patients, with 31 of them being girls with CAH and 2 being women with clitoral hypertrophy. CONCLUSION: Corporoplasty is a simplified technique for clitoroplasty, with the advantage being that is faster and safer than the technique that involves the dissection of the neurovascular bundle. In addition, corporoplasty has the possible benefit of preserving the cavernosal blood flow that permits the engorgement of the clitoris during sexual arousal.

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ABSTRACT Introduction: 46,XX Congenital adrenal hyperplasia (CAH) remains the first cause of genital virilization and current surgical techniques aim to restore female aspect of genitalia while preserving dorsal neurovascular bundle but not at the expense of not preserving erectile tissue. We aim to report our experience with a new surgical technique for clitoroplasty, completely preserving corporeal bodies, neurovascular bundles without dismembering the clitoris, in four patients with over a year follow up. Materials and Methods: After IRB approval four patients with 46,XX CAH and Prader 5 and 3 external genitalia, underwent feminizing genitoplasty. Complete preservation of erectile tissue was accomplished without a need to dissect dorsal neurovascular bundle. Glans size allowed no need for glanular reduction and there was no need to dismember the corporeal bodies. Results: Four patients 12 to 24-months-old underwent complete corporeal preservation clitoroplasty (CCPC), mean age was 18.5 months, mean follow up was 10.25 months. Vaginoplasty was performed in all patients with partial urogenital mobilization (PUM) and Urogenital Sinus flap (UF), only one severely virilized patient required a parasagittal pre-rectal approach to mobilize the vagina. We had no complications until last follow up. Conclusion: To our knowledge, we are introducing the concept of CCPC without the need of disassembling the corporeal bodies, neurovascular bundle and glans. It stands as a new alternative for feminizing genitoplasty with complete preservation of erectile tissue and no dissection of neurovascular bundle. Although there is still lacking long-term follow-up, it represents a new step in conservative reconfiguration of the external virilized female genitalia.

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INTRODUCTION: 46,XX Congenital adrenal hyperplasia (CAH) remains the first cause of genital virilization and current surgical techniques aim to restore female aspect of genitalia while preserving dorsal neurovascular bundle but not at the expense of not preserving erectile tissue. We aim to report our experience with a new surgical technique for clitoroplasty, completely preserving corporeal bodies, neurovascular bundles without dismembering the clitoris, in four patients with over a year follow up. MATERIALS AND METHODS: After IRB approval four patients with 46,XX CAH and Prader 5 and 3 external genitalia, underwent feminizing genitoplasty. Complete preservation of erectile tissue was accomplished without a need to dissect dorsal neurovascular bundle. Glans size allowed no need for glanular reduction and there was no need to dismember the corporeal bodies. RESULTS: Four patients 12 to 24-months-old underwent complete corporeal preservation clitoroplasty (CCPC), mean age was 18.5 months, mean follow up was 10.25 months. Vaginoplasty was performed in all patients with partial urogenital mobilization (PUM) and Urogenital Sinus flap (UF), only one severely virilized patient required a parasagittal pre-rectal approach to mobilize the vagina. We had no complications until last follow up. CONCLUSION: To our knowledge, we are introducing the concept of CCPC without the need of disassembling the corporeal bodies, neurovascular bundle and glans. It stands as a new alternative for feminizing genitoplasty with complete preservation of erectile tissue and no dissection of neurovascular bundle. Although there is still lacking long-term follow-up, it represents a new step in conservative reconfiguration of the external virilized female genitalia.

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INTRODUCTION: Congenital adrenal hyperplasia (CAH) resulting from deficient 21-hydroxylase activity is an autosomal recessive disorder with an incidence of 1:5000-25,000 in Caucasian populations. Despite various techniques to treat CAH, total urogenital mobilization (TUM) has gained popularity. This technique has low morbidity, and can be performed by the perineal route with the patient in the dorsal lithotomy position without the need to separate the urethra from the vagina. We aim to demonstrate in this video the TUM technique step by step. METHODS: A 9-month-old child, born with ambiguous genitalia (Prader 3) with a 46XX karyotype and CAH diagnosis presented to our facility. Endoscopy showed a 2-cm common channel. RESULTS AND DISCUSSION: The patient was treated as described in the video and she had an uneventful clinical outcome with complete healing. TUM is an excellent alternative for treating CAH.

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CASE REPORT: A 10-year-old male was referred to our institution due to short stature and bilateral cryptorchidism and reported pubic hair development and acne since the age of 4 years. Laboratory and molecular genetic tests indicated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. After treatment with prednisone, adrenal hormones normalised but testosterone remained elevated. Magnetic resonance imaging of the abdomen due to cryptorchidism revealed uterus and adnexal attachments, a prostate and poorly defined nodules on the iliac chains. Upon exploratory laparotomy, a hysterectomy, bilateral oophorectomy and resection of a peri-adnexal nodular lesion on the patient's right side were performed. Histopathology of the nodule mass was compatible with a Leydig cell tumour with a low proliferation rate according to Ki67.

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OBJECTIVE: To report a case of congenital adrenal hyperplasia due to CYP17 deficiency caused by a novel CYP17A1 mutation. METHODS: We describe the clinical, biochemical, genetic, and radiologic findings of a sporadic case of congenital adrenal hyperplasia due to CYP17 deficiency in a young patient. RESULTS: An 18-year-old woman presented with hypogonadism and progressive muscle weakness and had not yet undergone thelarche, adrenarche, and menarche. Blood pressure was 155/90 mm Hg, she had no axillary or pubic hair, breasts were Tanner stage 1, and female genitalia were Tanner stage 1. Further laboratory studies showed hypokalemia with metabolic alkalosis, hypergonadotropic hypogonadism, a 46, XY karyotype, a low 17-hydroxyprogesterone level, and a high deoxycorticosterone level. Sequencing of the CYP17A1 gene demonstrated homozygous transversion of cytosine to adenine (TCA→TAA) in exon 5, which causes a premature stop codon at position 288 (Ser288X). Imaging studies showed large adrenal glands, cystic picture in the inguinal canal (suggestive of intra-abdominal testes), and absent Müllerian structures. Exploratory laparotomy was performed to remove the remaining gonads, and the final histologic examination showed atrophic testes. CONCLUSIONS: Congenital adrenal hyperplasia due to CYP17 deficiency should be suspected in patients with hypertension, hypokalemic alkalosis, and hypogonadism. In such cases, it is mandatory to assess the karyotype and perform hormonal and molecular genetic studies.

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OBJECTIVE: Congenital adrenal hyperplasia (CAH) is an uncommon syndrome which represents a therapeutic challenge. We analyzed the role of bilateral simultaneous laparoscopic adrenalectomy in the management of CAH. MATERIAL AND METHODS: : Between October 2004 and September 2006, three female patients underwent bilateral simultaneous laparoscopic adrenalectomy for CAH. Data were retrospectively collected. Variables analyzed were persistence of CAH clinical signs, variations in 17 OH progesterone level and corticoid medication, operative time, median blood loss, postoperative pain, hospital stay, and body image perception after surgery. RESULTS: Median age was 16.3 years. Complete regression of virilization signs, acne and hyperpigmentation was achieved in one case. The other two cases showed partial regression of signs. Levels of 17 OH progesterone reached normal parameters in all cases. Steroids doses were lowered and given only for replacement purposes. Mean operative time was 125, 65 and 60min for whole, right and left procedure, respectively. Median blood loss remained under 50ml in all cases and there were no complications. Median postoperative pain level was 5 according to visual analog pain scale. Median hospital stay was 4 days. CONCLUSION: Bilateral simultaneous laparoscopic adrenalectomy shows all the advantages of minimally invasive surgery, and appears a viable alternative to medical management, which is not exempt from complications.

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SUMMARY OBJECTIVES: The best time to perform a genitoplasty in a Congenital Adrenal Hyperplasia (CAH) girl is an issue that has been discussed extensively. The purpose of this study is to find criteria that may help in the decision. METHODS: Charts of all patients with diagnosis of CAH with 21 Hydroxylase deficit who underwent genitoplasty in our institution were reviewed (Jan 1996-Dec 2006). Demographic data, surgery performed and outcomes were analyzed. RESULTS: In the 10 year-period, 25 patients fit the inclusion criteria; 22 had complete data. All patients were classified based on Prader's criteria; Prader 2 (n=3), Pra der 3 (n=13) and Prader 4 (n=6). Mean age at first surgery was 13.5 months (range 2-89 m). In Prader 2 patients, a reduction clitoroplasty with a "cut back" vaginoplasty was performed with no complications. All patients in the Prader 3 group underwent a reduction clitoroplasty. A vaginoplasty was done in 9/13; 5/9 at the same surgery session (4 stenotic) and the other 4 in a 2nd stage with good results; vaginoplasty is still pending for the other 4 girls. In the Prader 4 group, a vaginoplasty pull-through was performed in 4/6 using the posterior sagital approach; one at the reduction clitoroplasty stage which ended stenotic and need dilatations, and the other 3 in a 2nd surgery with a good outcome. The other 2/6 girls are awaiting a vaginoplasty. 22/22 had acceptable results after a mean follow-up of 63 months (range 12-144). CONCLUSIONS: Congenital Adrenal Hyperplasia (CAH) shows different approaches may be used for different degrees of virilization. For less severe cases (Prader 3) a cut-back may be the surgery of choice for vaginoplasty, while in the more complex cases a flap with pull-through or a posterior sagital procedure could be useful. Based on this series, we recommend performing vaginoplasty in a 2nd stage surgery, avoiding complications and further procedures such as di lactations.

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OBJETIVO: Identificar questões relacionadas à definição e redesignação sexual e à cirurgia corretiva em pacientes com hiperplasia adrenal congênita (HAC) e compreender a inserção do psicólogo no seu atendimento. MÉTODOS: Selecionaram-se 21 sujeitos: 7 especialistas de cinco instituições do Sistema Único de Saúde (SUS), 9 familiares e 6 pacientes com HAC, seguindo-se padrões da pesquisa qualitativa. Neste artigo, analisaram-se três das categorias estudadas: "definição e redesignação sexual", "cirurgia e dilatação" e "psicologia". RESULTADOS: A situação de indefinição sexual é a que mais angustia os pais, enquanto a redesignação inquieta mais os médicos. A sensação de isolamento para lidar com a doença e tratamento foi comum nas pacientes; os procedimentos de dilatação foram sua principal queixa. Os médicos acham que a cirurgia deve ser feita com brevidade para evitar traumas posteriores. CONCLUSÕES: Diante de questões psicológicas complexas, chama a atenção o fato de que nem todo serviço de atendimento especializado conta com a presença de um psicólogo. Os exames de dilatação causam traumas nas pacientes. No grupo estudado, constataram-se dificuldades para lidar com as questões relacionadas à sexualidade.

OBJECTIVE: To identify relevant questions related to sex definition and re-designation and reconstructive surgery in patients with congenital adrenal hyperplasia (CAH), and to understand the role of the psychologist in providing care for these patients. METHODS: We selected 21 subjects: 7 pediatric endocrinologists from 5 Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to a qualitative research model. In this paper, 3 of the studied categories are analyzed: "sex definition and re-designation", "reconstructive surgery/vaginal dilation", and "psychology". RESULTS: Parents' main anguish relates to the situation of an unnamed sex at birth, whereas sex re-designation was distressful to physicians. A sense of loneliness when dealing with the disease and treatment was a common anguish among patients; dilation procedures were the major complaint. In general, physicians recommend that genital reconstructive surgery be performed early on to avoid future trauma. CONCLUSIONS: In such a complex scenario, it is remarkable that not all the reference service staff have a psychologist on duty. Difficulties to deal with questions involving sexuality were evident and dilation procedures are an additional source of trauma for these patients.

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