Genitoplasty in newborn females with adrenogenital syndrome: Focus on the reconstruction technique and its outcomes.

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.

Leydig cell tumour and giant adrenal myelolipoma associated with adrenogenital syndrome: a case report with a review of the literature.

CONTEXT: Male patients with congenital adrenal hyperplasia (CAH) may develop bilateral testicular adrenal rest tumours (TARTs). These tumours, in most cases, regress with glucocorticoid therapy and their histological differentiation from Leydig-cell tumors is quite difficult. OBJECTIVE: The aim of this study was to differentiate the histological and clinical features of the TARTs from those of the Leydig-cell tumours. METHODS: The authors report a case of bilateral Leydig-cell tumour associated with giant bilateral adrenal myelolipoma in a male with adrenogenital syndrome who was submitted to a bilateral orchiectomy. RESULTS: Testicular neoplasia continue to grow despite adequate hormonal treatment and a bilateral orchiectomy was performed. The histopathological examination of the specimen ultimately confirmed the diagnosis of bilateral Leydig-cell tumour. CONCLUSIONS: This case shows the importance of all the relevant examinations, blood chemistry analysis, and instrumental tests in the differential diagnosis of TARTs and other testicular tumours.

Feminizing genitoplasty: a proven technique.

The female child with the adrenogenital syndrome is subject to a variable degree of masculinization. Surgery should be directed to 3 goals: (1) removing the corpora and preserving the glans with its innervation to create a clitoris with normal sensation, (2) creating a normal-appearing introitus by fashioning labia minora from phallic skin and foreskin, and (3) vaginoplasty to provide an adequate opening for the vagina onto the perineum. The entire repair may be completed before the age of 6 months unless the vagina enters the urogenital sinus at the high level, in which case vaginoplasty may be delayed until the child is older. The evolution of this operative approach is described and the details of the operative technique are presented.

Vaginal replacement in the pediatric age group: a 34-year experience of intestinal vaginoplasty in children and young girls.

BACKGROUND/PURPOSE: The absence of vagina is rare in the pediatric population. It can occur as a result of congenital malformations such as an aplasia of mullerian ducts (46,XX Mayer-Rokitansky-Küster-Hauser syndrome) or a complete androgen insensitivity syndrome (46,XY testicular feminizing syndrome). Intersex patients, who underwent reassessment of a female sex, need a genital reconstruction toward a feminine phenotype. Patients with congenital adrenogenital syndrome with high urogenital sinus could have a severe hypoplastic vagina. In all these cases, a vaginal replacement is required. We reviewed our experience of vaginal replacement using a sigmoid conduit. METHODS: In 34 years, we evaluated 47 patients. The observation period was from 1 to 34 years (mean: 12 years). The preoperative diagnosis was Mayer-Rokitansky-Küster-Hauser syndrome in 17 cases, androgen insensitivity syndrome in 24 cases, adrenogenital syndrome with high urogenital sinus in 5 and 1 patient was affected by penile agenesis. Forty-six patients were treated with vaginal reconstruction by interposition of sigmoid colon. Only in 1 case we performed a vaginal construction with an ileal loop: in this case, the sigmoid colon was extremely dilated by a chronic constipation secondary to a high anorectal malformation corrected at birth. RESULTS: The outcome for 47 patients is excellent: 18 are sexually active and 4 are married. Only 1 patient with adrenogenital syndrome died of endocrine problems. Complications occurred in 17 cases: in 1 patient a necrosis of the replaced vagina occurred, thus requiring vaginal exeresis; now she is waiting for a second operation. Another patient had an abdominal abscess, which was surgically treated. In 12 cases a second procedure was required: 6 had stenotic new-vaginal introitus, 4 had new-vaginal prolapse, and 2 had intestinal obstruction. CONCLUSIONS: We believe that the preferable technique for vaginal replacement is the use of intestinal conduit. The sigmoid colon is the best intestinal tract to be used owing to its size, location and preserved blood supply. Our experience leads us to believe that the sigmoid segment is the segment of choice, although we consider ileal loop as a good alternative when the sigmoid colon is not available.

[Adrenal tumors. Principles of diagnostics and operative treatment]. / Nebennierentumoren. Grundlagen der Diagnostik und operativen Therapie.

Adrenal masses are very heterogeneous and comprise benign or malignant tumors, unilateral or bilateral masses and variable endocrine activity. Because of these attributes adrenal gland masses are a clinical challenge. This article gives a summary of diagnostic steps and indications for adrenal surgery including perioperative management.

Microscope-assisted reduction clitoroplasty used to treat two patients with clitoromegaly.

We report 2 cases of clitoromegaly, 1 in a patient with true hermaphroditism, and the other in a patient with adrenogenital syndrome. Both were treated surgically with reduction clitoroplasty. There are 3 different clitoroplasty procedures: clitorectomy, clitoral recession, and reduction clitoroplasty. Reduction clitoroplasty with preservation of the neurovascular bundle is considered superior in terms of formation of the external genitals and sensation. However, the disadvantages are that detachment of the neurovascular bundle from the clitoral shaft is difficult and that there is a high possibility of sensory and blood flow disorders in the clitoris. In an attempt to achieve safe and reliable surgical manipulation, we used a surgical microscope (OPMI 6-SDFC, Carl Zeiss Surgical GmbH, magnification x8) to detach the neurovascular bundle from the clitoral shaft in our 2 patients. Our impression is that our efforts were extremely effective. Furthermore, our experience leads us to believe that the procedure for neurovascular bundle detachment required in reduction clitoroplasty is not particularly difficult if performed with a surgical microscope by a plastic surgeon who regularly performs microsurgery. Because the procedure can be performed simply and safely, we believe that reduction clitoroplasty with preservation of the neurovascular bundle is the best overall of the 3 clitoroplasty procedures.

A modified approach for feminizing genitoplasty.

PURPOSE: We reported the use of the mucosal layer of preputial skin to give extra length to penile flaps on vaginal introitus and labia minora reconstruction in children with congenital adrenal hyperplasia. MATERIALS AND METHODS: Since November 1999, 14 patients (average age 16 months, range 6 months-4 years) have undergone early one-stage reconstruction of external genitalia. All patients were classified according to Prader's classification (from III to V degree) with clitoral size of 3 +/- 1.5 cm. The perineal sagittal approach is followed by careful dissection and partial mobilisation of the urogenital sinus. Subcutaneous reduction clitoroplasty has been performed. The mucosal layer of the prepuce, developed as an extended flap on the end of the phallic shaft skin used for labia minora, is ideally placed for reconstruction of the vestibulae and distal vagina. RESULTS: The vagina was calibrated, the main vaginal calibre was 10 Hegar (range 6-14). With one exception, the urethral meatus was situated in the vestibulae and easily accessible. One distal vaginal stenosis was observed in a case with high confluence. No urinary incontinence was noted. The appearance of external genitalia was very satisfactory. CONCLUSIONS: The described genitoplasty provides a good cosmetic appearance. As most of our patients have not yet reached the age of sexual activity and child bearing, the functional results of this operation will need longer-term evaluation.

[Treatment of male adrenogenital syndrome (report of 17 cases)].

OBJECTIVE: To discuss the treatment of male adrenogenital syndrome. METHODS: The clinical data of 17 patients with male adrenogenital syndrome, including 15 cases of congenital adrenal hyperplasia (CAH) and 2 cases of adrenocortical tumors, were analyzed retrospectively. The patients with 21-hydroxylase deficiency (21-OHD) and 11beta-hydroxylase deficiency (11beta-OHD) were treated with adrenocortical hormone, those with 17-hydroxylase deficiency (17-OHD) received sexual glands excision and estrogen besides adrenocortical hormone, and those with adrenocortical tumors underwent surgical removal. RESULTS: Sexual precocity symptoms disappeared and abnormal laboratory results returned to normal in 5 of the 21-OHD patients, who adhered to hormone treatment, and height growth was improved in the other 2, who received the medicine at an early age. The testicular adrenal rest (TAR) tumor was reduced dramatically in 1 case of 21-OHD after treatment. A left TAR found in another 21-OHD patient who discontinued the hormone therapy became softened after the resumption. Sperm could be seen in the semen of 3 21-OHD patients, but in small quantity and of poor quality. One 11beta-OHD patient with sexual precocity symptoms and hypertension became normal after the hormone treatment, and six 17-OHD patients maintained their female sexuality after the hormone treatment and operation. No relapse was found after resection of the adrenocortical tumors. CONCLUSION: Adrenocortical hormone therapy helps improve the height growth and testicular function of CAH patients, and surgical removal is necessary for adrenocortical tumors.

Mobilização total do seio urogenital para tratamento da genitália ambígua em crianças com hiperplasia adrenal congênita / Total urogenital sinus mobilization in the repair of ambiguous genitalia in children with congenital adrenal hyperplasia

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.

[Total urogenital sinus mobilization in the repair of ambiguous genitalia in children with congenital adrenal hyperplasia]. / Mobilização total do seio urogenital para tratamento da genitália ambígua em crianças com hiperplasia adrenal congênita.

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.

Trends in utilization of adrenalectomy in the United States: have indications changed?

Minimally invasive approaches have dramatically reduced morbidity associated with adrenalectomy. There has been concern that an increased frequency of adrenal imaging along with the advantages of less morbidity could influence the indications for adrenalectomy. We tested the hypothesis that adrenalectomy has become more common over time and that benign diseases have been increasingly represented among procedural indications. The Nationwide Inpatient Sample (NIS) database was utilized to determine the incidence of adrenalectomy and the associated surgical indications in the United States between 1988 and 2000. All discharged patients were identified whose primary ICD-9-CM procedure code was for adrenalectomy, regardless of the specific surgical approach (laparoscopic adrenalectomy was not reliably coded). This subset was then queried for associated ICD-9-CM diagnostic codes. Linear regression and t-tests were utilized to determine the significance of trends. The total number of adrenalectomies increased significantly, from 12.9 per 100,000 discharges in 1988 to 18.5 per 100,000 discharges in 2000 (p = 0.000003). The total number of adrenalectomies with a primary ICD-9-CM code for malignant adrenal neoplasm did not increase significantly: from 1.2 per 100,000 discharges in 1988 to 1.6 per 100,000 discharges in 2000 (p = 0.47). The total number of adrenalectomies with a primary ICD-9-CM diagnostic code for benign adrenal neoplasm increased significantly, from 2.8 per 100,000 discharges in 1988 to 4.8 per 100,000 discharges in 2000 (p = 0.00002). The average percentage of adrenalectomies performed for malignant neoplasm was significantly higher during the period 1988--1993 when compared to 1994--2000 (11% vs. 9%; p = 0.002). The average percentage of adrenalectomies performed for benign neoplasm was significantly lower during 1988--1993 when compared to 1994--2000 (25% vs. 28%; p = 0.015). Adrenalectomy is being performed with increasing frequency. This is associated with an increase in the proportion of adrenalectomies performed for benign neoplasms. Assuming no significant change in disease prevalence during the study period, these data suggest that indications for adrenalectomy may have changed somewhat over that period.

Labioscrotal island flap in feminizing genitoplasty.

BACKGROUND/PURPOSE: Stenosis of the vaginal introitus is the most frequent complication after genital reconstruction for ambiguous genitalia associated with congenital adrenal hyperplasia (CAH). With the aim of enlarging the vaginal introitus, the authors present a technical modification of the introitoplasty that uses a bilateral cutaneous island flap based on the perineal superficial branches of the internal pudendal artery. METHODS: Eleven girls with CAH and Prader III to V genital ambiguity were included. Feminizing genitoplasty was performed in 1 stage. Bilateral cutaneous labioescrotal island flaps, based on the posterior labial artery, were included in the introitoplasty. The cosmetic results of the genitoplasty were evaluated by photographic analysis of the external genitalia. RESULTS: Integrity of the vaginal introitus as well as excellent integration of the flap and absence of additional scars in the donor area were assessed in all girls. CONCLUSIONS: This modified island flap is technically feasible and reproducible producing no additional sequels in the donor area. It uses perineal skin that is usually excised in other techniques avoiding the use of harvesting skin from adjacent areas. Thus, it can be a useful additional procedure in the introitoplasty in association with the currently used techniques.

Clitoral sensitivity after surgical correction in women with adrenogenital syndrome: a long term follow-up.

Surgical reduction of hypertrophy of the clitoris in early childhood, as well as vaginal reconstruction or vaginoplasty during the early teens, is required in girls with adrenogenital syndrome. In eight women (age >17 years) with adrenogenital syndrome, the sensitivity of the surgically reduced clitoris was evaluated by examination of vibration and light touch sensitivity, more than one year after vaginoplasty. When they were compared with a group of women who had not been operated on, the sensitivity to vibration and light touch were similar if the clitoris had been reduced as a one-stage procedure. In one woman who had had a second reduction, sensitivity was impaired. All women reported that the vaginal reconstruction was successful as far as sexual activity was concerned. Six of the eight had stable relationships with boyfriends or husbands. No pregnancies or children were reported.