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Virilization in an adolescent patient can occur for multiple reasons (ovarian, suprarenal or exogenous reasons). We describe a 14-year-old patient with 1-year secondary amenorrhea, who had an ovarian mature teratoma as a cause of her clinical history.

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PURPOSE: We present the outcomes of one of the largest series specifically of laparoscopic hysterosalpingectomy with bilateral gonadectomy in 46,XX patients with congenital adrenal hyperplasia raised as a male. PATIENTS AND METHODS: From June 2005 to March 2008, five patients raised as male were treated at our institution using laparoscopic surgery. 46,XX disorder of sex development was diagnosed in all the patients because of congenital adrenal hyperplasia. Hysterosalpingectomy with bilateral gonadectomy was performed completely laparoscopically in all five patients. RESULTS: All procedures were completed with minimal blood loss. The duration of the surgeries was 70-125 minutes. There were no complications during surgery or conversion to open surgery. The hospital stay ranged from 1 to 2 days, except in one patient who presented urinary retention and was discharged from the hospital a week after the surgery. CONCLUSIONS: Laparoscopic surgery can be safely used as part of the diagnosis and treatment of 46,XX disorder of sex development. Laparoscopy can be useful in the diagnosis as well as surgical management of Müllerian structures as well as intraabdominal gonads contrary to social sex.

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UNLABELLED: The ideal surgical technique and appropriate age for performing feminizing genitoplasty are debatable, and few long-term outcome studies have been reported. PURPOSE: To report a retrospective study on anatomical and functional outcomes of feminizing genitoplasty in patients with virilizing congenital adrenal hyperplasia. METHODS: We selected 34 patients (mean age = 3.4 +/- 2.5 yr) with genital ambiguity classified according to Prader stage. Follow-up ranged from 2 to 16 years. Clitoral length ranged from 1.9 to 5.0 cm; 28 patients had a single perineal orifice, and 6 had a double orifice. The surgical technique included clitorovaginoplasty in a single procedure and was carried out before 2 years of age in 18 patients. Clitoroplasty was performed with glans preservation in all patients. Blood supply was exclusively maintained by the frenular pedicle in 97% of the cases, whereas clitoral dorsal nerves and vessels were preserved in the remaining 3%. The opening of the urogenital sinus was performed using either the Y-V perineal flap procedure (25 patients) or the cut-back incision procedure (8 patients). RESULTS: Good morphological and functional results were achieved in 68% of the patients; 21% of the patients had surgical complications, such as incision bleeding (2 cases), glans necrosis (1 girl with Prader V), and vaginal introitus stenosis (4 cases). Three of the latter underwent dilation with acrylic molds in the post-pubertal period with good functional results. CONCLUSIONS: We conclude that single-stage feminizing genitoplasty consisting of vulvoplasty, clitoroplasty, and Y-V perineal flap produced good cosmetic and functional results in virilized girls with congenital adrenal hyperplasia, with few complications. In addition, this surgical approach prevented the need for neovaginaplasty even in patients with high vaginal insertion.

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OBJETIVO: Apresentar um estudo retrospectivo sobre os resultados cosméticos e funcionais da genitoplastia feminizante em pacientes com hiperplasia adrenal congênita virilizante. MÉTODOS: Trinta e quatro pacientes com idade média de 3,35 ± 2,5 anos com ambigüidade genital classificada de acordo com os estádios de Prader foram selecionados. O seguimento pós-operatório foi de 2 a 16 anos. O tamanho do clitóris variou de 1,9 a 5,0 cm; 28 pacientes tinham orifício único perineal e 6 tinham dois orifícios. A técnica cirúrgica incluiu clitorovaginoplastia em tempo único e foi realizada antes dos dois anos de idade em 18 pacientes. A clitoroplastia preservou a glande, a qual teve seu suprimento sanguíneo mantido em 97% dos casos pela mucosa do freio e no demais casos com a manutenção do feixe vasculo-nervoso dorsal. Duas técnicas foram utilizadas para a ampliação do seio urogenital: o retalho perineal em "Y-V" em 25 pacientes e a incisão longitudinal posterior em 8 pacientes.RESULTADOS: As complicações cirúrgicas ocorreram em 20,5% dos casos: sangramento, necrose da glande e estenose vaginal. Foram necessárias dilatações vaginais com moldes de acrílico no período pós puberal em 3 das pacientes com estenose, com bons resultados funcionais. CONCLUSÃO: As técnicas utilizadas seguidas pelas dilatações, permitiram bons resultados cosméticos e funcionais em 67% dos casos apresentando poucas complicações e evitando a necessidade de neovagina inclusive nos pacientes com inserção alta do intróito vaginal.

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A abordagem cirúrgica das pacientes com hiperplasia adrenal congênita (HAC) é um desafio e envolve controvérsias. O objetivo deste estudo é avaliar os resultados da correção da genitália em 10 crianças 46 XX com HAC, pela técnica de mobilização total do seio urogenital (MUT), em tempo único. A idade, por ocasião do tratamento cirúrgico, variou de 11 a 78 meses (média= 32 meses) e o seguimento pós-operatório de 15 a 36 meses (média= 26 meses). O aspecto estético foi considerado bom em 7, com uretra e vagina bem exteriorizados no vestíbulo, e satisfatório em 3. Após o acompanhamento médio de 26 meses, a técnica de MUT, por via perineal, sem divisão do reto, se mostrou eficaz para o tratamento da genitália ambígua em crianças com HAC.

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The surgical approach to patients with congenital adrenal hyperplasia (CAH) has been a challenge and it is still controversial. The aim of this study was to review 10 children with 46,XX CAH who underwent one-stage total urogenital sinus mobilization (TUM). Age at operation ranged from 11 to 78 months (mean= 32) and the follow-up from 15 to 36 months (mean= 26). Cosmetic results were good in 7 patients and satisfactory in 3. After a mean follow-up of 26 months, our results showed that TUM was a good option to repair ambiguous genitalia in children with CAH.

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OBJECTIVE: The frequency of gonadoblastoma is high in patients with Turner's syndrome bearing cells with Y or partial Y-chromosome. About 60% of patients with Turner's syndrome have a 45,X karyotype. In 30% of them a Y-sequence is disclosed by DNA analysis. To identify patients at risk of developing gonadoblastoma, a PCR based assay with SRY, ZFY and DYZ3 specific primers was carried out to detect different Y-sequences in the DNA of peripheral lymphocytes from patients with Turner's syndrome. DESIGN AND PATIENTS: Peripheral blood karyotypes from 36 patients with Turner's syndrome were studied. Patients with proven Y-chromosomal material were excluded. Genomic DNA was extracted from peripheral blood. SRY and ZFY genes and DYZ3 repetion of Y-chromosome were amplified by PCR. Patients with clinical signs of hyperandrogenism or with positive Y-sequences by PCR underwent gonadectomy. The gonadal tissues were examined for Y-sequences using PCR, morphology and immunohistochemical study. MEASUREMENTS: Turner's syndrome and signs of hyperandrogenism were evaluated both clinically and through laboratory tests. Haematoxylin and eosin staining was employed in gonadal morphology studies. The presence of testosterone was detected by immunohistochemistry using a monoclonal antibody. RESULTS: Two patients who had Y-positive blood samples and three hyperandrogenic (2 hirsutes, 1 virilized) Y-negatives underwent gonadectomy. PCR was carried out on their gonadal tissue. The tissue from the two patients without hyperandrogenism was Y-positive. The gonadal tissue from the three hyperandrogenics was Y-negative. Gonadal morphology disclosed hilus cell hyperplasia in the 3 hyperandrogenic Y-negatives and in one Y-positive patient; stromal luteoma and hyperthecosis in the virilized patient, cystadenofibroma in one hirsute patient and gonadoblastoma in one Y-positive. Testosterone was detected immunohistochemically in the hilus cell hyperplasia, stromal luteoma and hyperthecosis found in the hyperandrogenic patients. CONCLUSIONS: The molecular study was sensitive and useful in the evaluation of patients at risk of developing gonadoblastoma. Other nontumour, gonadotrophin-dependent and Y-independent mechanisms which deserve the same medical approach may be involved in the genesis of hyperandrogenic signs in Turner's syndrome.

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Se presentan quince pacientes de hiperplasia suprarrenal virilizante controladas en el Hospital San Juan de Dios en los últimos 20 años. La 17 hidroxiprogesterona plasmática y pregnantriol urinario junto con la cromatina sexual positiva demostraron ser los exámenes de mejor sensibilidad para el diagnóstico. Los 17 cetoesteroides en orina no fueron diagnósticos en 2 casos. La evaluación preoperatoria para definir la anatomía mediante ecotomografía pelviana, genitograma y cistoscopía demostró ser útil en su conjunto, especialmente la cistoscopía si era realizada por manos expertas. La corrección quirúrgica precoz en la niñez demostró buenos resultados estéticos y funcionales en los enfermos que tenían más de dieciocho años en el control tardío. La cirugía vaginal con ampliación del introito demostró buen lumen en el control tardío, salvo un caso de interposición de intestino delgado, entre vagina alta y vulva, que requerirá más cirugía. En un caso en que se asignó el sexo masculino por diagnóstico tardío (a los 5 años), el niño ha tenido un buen desarrollo del sexo social pero conserva caracteres fenotípicos feminoides

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