Timing of feminising surgery in disorders of sex development.

The role of feminising surgery in disorders of sex development (DSD) has been a topic of intense discussion for many years. The controversy mainly focuses on the timing of surgery: early (in childhood) or delayed (in adolescence), with clinicians divided in opinion. This conflict between proponents of either treatment approach remains unresolved, and will continue to do so until long-term outcome data from prospective studies become available. A significant recommendation of the Chicago Consensus Statement in 2005 was the need for individuals with DSD to be cared for exclusively in specialised centres within a multidisciplinary setting. Whilst this appears to be widely adopted, it remains to be seen whether other recommendations regarding limiting feminising surgery only to girls with a significant degree of virilisation have been similarly embraced. To reflect the current situation, we will summarise the main arguments in favour of either of the two treatment modalities, i.e. early or late feminising surgery, and conclude with a management proposal.

Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia.

PURPOSE: Female sex assignment followed by cosmetic genitoplasty to feminize the genitalia in infancy remains standard practice in the clinical management of ambiguous genitalia. The effects of surgery on genital sensitivity have never been objectively evaluated. To our knowledge the current study is the first to evaluate genital sensitivity and sexual function in women with congenital adrenal hyperplasia. MATERIALS AND METHODS: A total of 28 women with congenital adrenal hyperplasia and 10 normal controls were recruited. Details of prior genital surgery were obtained from medical records. Sensitivity thresholds for the clitoris and upper vagina were measured using a GenitoSensory Analyzer (Medoc, Ramat, Israel). Sexual function was assessed using a standardized measure. RESULTS: Of 28 women with congenital adrenal hyperplasia 24 had undergone feminizing genital surgery. In women who underwent surgery there was significant impairment to sensitivity in the clitoris compared to controls. No difference was observed for the sensitivity threshold in the upper vagina, where surgery had not been done in any of the women. Data on the 4 women with congenital adrenal hyperplasia who had not undergone surgery were similar to those in controls. Sexual function difficulties were more severe in women who underwent surgery, especially vaginal penetration difficulties and intercourse frequency. Linear relationships were observed for impairment to sensitivity and severity of sexual difficulties. CONCLUSIONS: Genital sensitivity is impaired in areas where feminizing genital surgery had been done and impairment to sensitivity are linearly related to difficulties in sexual function. The new information may help inform clinicians and parents making difficult decisions about genital surgery for infants with ambiguous genitalia.

Long-term functional outcomes of female genital reconstruction in childhood.

There are two very interesting paediatric urology papers; in the first, authors from London describe the long-term functional outcomes of female genital reconstruction in childhood, and in the second, authors from Italy present a morphological and manometric study of VUR.

Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues.

Our knowledge of the experience of adults with congenital adrenal hyperplasia (CAH) as they pass through life is only now emerging. In this review we gather medical, surgical and psychological literature pertaining to adults with CAH and consider this alongside practical experience gained from a dedicated adult CAH clinic. There is increasing awareness for the need for multidisciplinary teams who have knowledge of CAH particularly with respect to gynaecological surgery and clinical psychology for women and testicular function in men. Routine management of CAH comprises adjustment of glucocorticoid and mineralocorticoid treatment according to individual needs balancing biochemical markers, compliance and long term risks. Bone density is one such long term concern and is not greatly reduced in most individuals with CAH. More recently, attention has turned to cardiovascular risk factors and catecholamine deficiency in adults with CAH. Women with CAH require access to an experienced gynaecologist, specialised pregnancy care and psychosexual support. The very low fertility rates for women with CAH previously reported appear to be improving with time. Men with CAH are often lost to follow up and therefore miss out on surveillance for hypogonadism either through the effect of adrenal rests of from suppression of gonadotrophins resulting in a high prevalence of oligospermia.

XY females: revisiting the diagnosis.

OBJECTIVES: To investigate the accuracy of assigned diagnosis in XY female intersex conditions. DESIGN: Cross sectional hospital case notes review. SETTING: Tertiary hospital multidisciplinary intersex clinic. SAMPLE: Forty-six adult intersex women with a complete or mosaic XY karyotype. METHODS: All clinical features and investigation results were reviewed and a diagnosis was assigned. This was compared to the original diagnosis assigned. MAIN OUTCOME MEASURES: Data collected included presentation, all investigations, subsequent clinical course and all treatments (medical and surgical). These data were employed to assign an up-to-date intersex diagnosis, which was compared with the recorded diagnosis in the hospital case notes. Diagnoses were then rated according to level of accuracy. RESULTS: The 47.8% patients had an accurate diagnosis, 32.6% of diagnoses were inaccurate and currently under review, 13% had a wrong diagnosis and 6.5% remain with an unknown aetiology for their XY intersex condition. CONCLUSIONS: Diagnostic accuracy is assumed to be high when evaluating published work on these conditions; however, this study shows 52.1% of patients have unknown, inaccurate or wrong diagnoses. Assigning the wrong diagnosis may be harmful, for example, if it leads to irreversible virilising changes or development of a gonadal malignancy, and for all cases excludes accurate condition management and genetic counselling for both the patient and their immediate family.

Congenital adrenal hyperplasia and lower urinary tract symptoms.

OBJECTIVES: To assess urinary symptoms in adult women with congenital adrenal hyperplasia (CAH), as feminizing surgery in infancy is current standard practice for CAH and one of the indications for surgery is to reduce urinary symptoms. PATIENTS, SUBJECTS AND METHODS: In a case-control study, 19 women with CAH, of whom 16 had had childhood feminizing genital surgery, and age-matched women with no CAH, were evaluated. Subjects and controls completed the Bristol Female Lower Urinary Tract Symptoms (BFLUTS) questionnaire. RESULTS: Urge incontinence was reported in 13 (68%) patients and three (16%) controls (P = 0.003); stress incontinence was present in 47% and 26%, respectively (P = 0.31). Results from the controls were comparable with those documented in larger studies on normal populations. Nine of the patients felt that their urinary symptoms had an adverse effect on their lives, compared with only one of the controls (P = 0.008). CONCLUSION: Patients with a diagnosis of CAH are more likely to have significant urinary symptoms than normal controls. At present it is not clear whether this is a result of surgery or an effect of CAH. In at least two-thirds of patients surgery did not achieve the objective of reducing urinary symptoms.

Minimal surgical intervention in the management of intersex conditions.

The surgical correction of ambiguous genitalia has been a significant part of treatment for intersex conditions for the last 50 years, based on the belief that the child will be psychologically damaged by the uncorrected appearance. Despite widespread adoption of this policy, there is no evidence in the literature to support this approach. More commonly, the primary indication appears to be for the relief of parental anxiety. However, patients are increasingly expressing dissatisfaction with previous management, arguing that surgery should only be performed for strictly defined medical indications. Surgery may comprise treatment for the absent or shortened vagina, or for the correction of virilised external genitalia. The timing of such surgery is controversial, with many surgeons believing that a 'one-stage' procedure in infancy is appropriate. However, given that the vast majority of patients require further surgery at adolescence, others argue that deferral of vaginal surgery until after puberty is more appropriate. The role of clitoral surgery is contentious with many questioning the necessity of any operation in childhood for cosmesis which may impair subsequent sexual function. Despite claims that newer surgical techniques lead to a better result than previously, there remains little information in the literature regarding long-term functional outcomes following clitoral reduction procedures. Alternatives to vaginal and clitoral surgery are considered in this article. Vaginal operations should almost always take place at adolescence, given the poor outcomes of early surgery. When clitoral operations are performed, this should be for severely virilised individuals, with surgery best avoided for those with only mild or moderate virilisation.

Ovarian torsion: to pex or not to pex? Case report and review of the literature.

STUDY OBJECTIVE: We report the case of a 7-year-old girl who underwent laparoscopic ovariopexy for a suspected ovarian torsion after a previous oophorectomy. We consider the role of elective ovariopexy of the contralateral ovary in the case of adnexal torsion. DESIGN: Case study and review of the literature. RESULT: There was evidence to suggest a very recent adnexal torsion and an unusually long ovarian pedicle, with a possible familial linkage. The patient underwent laparoscopic ovariopexy for the remaining normal ovary, which was found to be loosely twisted at operation. After detorsion, ovariopexy was performed laparoscopically, by suturing the ovary to the back of uterus. There are no other descriptions in the literature of a familial linkage with ovarian torsion. CONCLUSION: The case presented reminds doctors of the strong possibility of ovarian torsion in young girls presenting with pelvic pain. Laparoscopic ovariopexy for the contralateral ovary should be considered in all women with evidence of torsion, including children and adolescents, as is standard for testicular torsion.