Gynaecology Department, Royal Children's Hospital, Melbourne, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Australia; Urology Department, Royal Children's Hospital, Melbourne, Australia.
J Pediatr Urol. 2018 Jun;14(3):240.e1-240.e5. doi: 10.1016/j.jpurol.2018.01.006. Epub 2018 Feb 7.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition resulting in excess androgen production. Females are typically born with ambiguous genitalia and often undergo feminising genitoplasty in infancy or childhood. Recently, there has been considerable international debate as to whether distressing urinary symptoms in CAH patients are truly present and, if so, whether these urinary problems are a consequence of the feminising genitoplasty.
To identify and assess any urinary symptoms in an Australian cohort of adolescent and adult women with CAH who have undergone feminising genitoplasty in infancy, childhood or adolescence as a part of their management.
Females with CAH aged 12-40 years, who had undergone feminising genitoplasty, and were identified from a hospital database (n = 72). Those aged 12-15 years were assessed using the Paediatric Incontinence Symptom Index questionnaire in conjunction with sections of the Bristol Female Lower Urinary Tract Symptoms Scored Form questionnaire. Those aged 16-40 years were assessed using the Bristol Female Lower Urinary Tract Symptoms Scored Form questionnaire. Uroflowmetry studies and post-void residual volume ultrasounds were also conducted. Previously published normative data were used for the control population.
Responses to the questionnaire indicated that CAH patients had a higher incidence of urgency, frequency, urge incontinence, unexplained incontinence and nocturnal incontinence, when compared to previously published control data. Average and maximum urine flow rates measured by uroflowmetry were within normal range; however, the 16-40-year-old age group had significantly increased mean post-void residual volumes (P < 0.001) (Summary table).
The presence of lower urinary tract symptoms in these patients has previously been interpreted as a direct outcome of feminising genitoplasty; however, these results could also be accounted for by the virilisation of pelvic floor musculature. Androgens have been shown to increase skeletal muscle mass, but their exact impact on the pelvic floor musculature requires further research. Three previous studies have measured post-void residual volumes in patients with CAH, all of which found it them be raised.
Patients with CAH appeared to have overall normal urinary flow but increased post-void residual volumes. The data suggested that this population of patients has an increased probability of incontinence, urgency, and frequency when compared to a control population. These results confirmed findings of other small studies; however, it remains unclear if these changes reflected the underlying diagnosis or were a consequence of management.
先天性肾上腺皮质增生症（CAH）是一种常染色体隐性疾病，导致雄激素产生过多。女性通常出生时外生殖器模糊，并且经常在婴儿期或儿童期接受女性化生殖器成形术。最近，国际上就 CAH 患者是否确实存在令人痛苦的尿路症状以及如果存在这些问题，这些尿路问题是否是女性化生殖器成形术的后果存在相当大的争议。
确定并评估在澳大利亚队列中接受过婴儿期、儿童期或青春期女性化生殖器成形术的青少年和成年 CAH 女性中是否存在任何尿路症状，这是她们治疗的一部分。
从医院数据库中确定了 72 名患有 CAH 且年龄在 12-40 岁之间的女性，她们接受了女性化生殖器成形术。年龄在 12-15 岁的患者使用小儿尿失禁症状指数问卷结合布里斯托女性下尿路症状评分问卷的部分内容进行评估。年龄在 16-40 岁的患者使用布里斯托女性下尿路症状评分问卷进行评估。还进行了尿流率研究和残尿量超声检查。使用以前发表的对照数据作为对照人群。
问卷调查的回答表明，与以前发表的对照数据相比，CAH 患者的尿急、尿频、急迫性尿失禁、不明原因的尿失禁和夜间遗尿发生率更高。尿流率测量的平均和最大尿流率在正常范围内；然而，16-40 岁年龄组的平均残尿量明显增加（P<0.001）（总结表）。
这些患者的下尿路症状以前被解释为女性化生殖器成形术的直接结果；然而，这些结果也可能是由于骨盆底肌肉的雄性化。雄激素已被证明可增加骨骼肌质量，但它们对骨盆底肌肉的确切影响需要进一步研究。三项以前的研究测量了 CAH 患者的残尿量，都发现其升高。
CAH 患者的总体尿流似乎正常，但残尿量增加。数据表明，与对照组相比，该患者人群发生尿失禁、尿急和尿频的可能性更高。这些结果证实了其他小型研究的发现；然而，目前尚不清楚这些变化是反映潜在诊断还是管理的后果。
