Women with CAH: “good” results justify surgeries; “bad” results have unclear causes

Numerous studies were presented by Australian teams to the I-DSD conference in Belgium this month, including several from the Royal Children’s Hospital, Melbourne. Two reports stand out, despite being listed in separate parts of the Conference Abstracts document. One on page 6 of 93 purports to show positive outcomes from early genital surgeries. Another, on page 74 of 93, appears to show that potentially bad outcomes have unclear origins, perhaps for innate reasons, or due – euphemistically – to “a consequence of management”. In fact, the two reports detail different aspects of a single study, with different conclusions from the same data.

The end table reproduces the entirety of the two different reports on a single broader study of a cohort of females with CAH aged 12-40 in Melbourne. All were subjected to “feminizing genitoplasty”, at an average age of 15 months by staff at Royal Children’s Hospital Melbourne. RCH Melbourne performed the study. In non-intersex girls, such surgeries are prohibited as Female Genital Mutilation. 

Surgical “feminising genitoplasties” are “offered”, part of “routine care”, and their prevalence such that there is no control group available in Australia to test an hypothesis that urinary issues are innate. Urinary issues are a known consequence of Female Genital Mutilation.

Although the age range for the interventions appears broad, a number of participants are still children. Three participants in the urinary component of the study are still minors, while the numbers of minors participating in the genital sensitivity component are not stated.

Body image report A concludes, on “feminizing genitoplasty”:

“The complication and reoperation rates were low. Outcomes including satisfaction with surgery timing, body image and sensation was high.”

While a urinary symptoms report B concludes:

“…this population of CAH patients have an increased probability of incontinence, urgency, and frequency when compared to a control population.”

This is a study by a hospital of people treated according to its own treatment protocols. Outcome studies are long overdue but self-assessment by the institution is subject to sample and selection bias. A critical Senate inquiry heard in 2013 that there is no long term follow-up on people subjected to medical interventions to “normalise” intersex bodies, so this study aimed to do that for a cohort of females with Congenital Adrenal Hyperplasia.

The sample size is small. Just 23 of 43 respondents who were successfully contacted by the hospital completed aspects of the study, with lower numbers for many questions. Ten (10/23) underwent multiple genital surgeries prior to the study.

It’s not clear what questions were asked and what choices were given; at least one widely quoted study failed to give respondents the ability to answer “no surgery was necessary”. The framing of such questions, and such studies, has a significant impact on findings.

It’s difficult to objectively assess sensitivity: negative consequences are likely to be observed in persons who undergo “feminizing genitoplasties” later, in adolescence, as a difference in sensation may be perceived. Those who underwent surgeries in infancy simply have no comparison. An unspecified number of respondents are still adolescents, and not sexually active. It’s not clear what is meant by “vibration” test; such testing is known to often be performed with a cotton bud or a vibrator. OII Australia does not find such testing on children to be appropriate; minors may also be in no position to judge the risks and benefits of this major sex assignment treatment. The sexual behaviour of adult participants in the study is not stated.

Further, not all people with XX chromosomes CAH, what is intended when talking about females with CAH, are actually women. A proportion identify as men or in other ways (see, for example, Family Court cases Welfare of A Child A (1993) FLC 92-402, and RE: Dylan [2014] FamCA 969). “Feminising genitoplasty” is wholly inappropriate for this group.

One report is a justification for non-consensual surgeries aimed at making the bodies of infants with an intersex variation appear more “normal”, and the other uncovers urinary issues, but neither report tells the full story. Both reports are snapshots of data selected from the same study. The only ways of identifying that the two reports come from the same study group are the statistical information and the overlapping authorship. The lesson is clear: responsibility is claimed for purported good results, but not for bad ones. They will literally be disassociated.

OII Australia does not consider surgical timing and purported efficacy to be the right questions about irreversible sex assignment treatments. The key issue is one of informed consent.

People born with intersex variations need to be given genuine prior and informed choices, to decide whether or not we wish to undergo irreversible medical treatment.

Those surgeries on children have been condemned by the UN, the World Health Organization, and the Council of Europe. An Australian Senate has called for human rights-based treatment protocols and the deferral of non-necessary interventions, and the Human Rights Commission has now called for that report to be implemented.

Congenital adrenal hyperplasia (CAH) in Melbourne: Surgical timing and complications, with outcomes including body image and genital sensation in a cohort study
Page 6
Long-term urinary symptoms in adolescent and adult women with congenital adrenal hyperplasia
Page 74
Authors: R Villegas1, A Morris1, M Bogdanska1,2, SR Grover1,2
1. Department of Gynaecology, Royal Children’s Hospital, Melbourne, Australia.
2. Depart of Paediatrics, University of Melbourne, Melbourne, Australia.
Authors: M Bogdanska1,2, A Morris1, M O’Brien3, J Hutson2,3, Y Heloury3, SR Grover1,2
1. Gynaecology department, Royal Children’s Hospital, Melbourne.
2. Department of Paediatrics, University of Melbourne.
3. Urology department, Royal Children’s Hospital, Melbourne.
CAH in females is associated with virilisation in utero. Feminising genitoplasties have been offered as part of routine care for many years, although considerable debate now exists relating to concerns regarding complication rates with early surgery, poor outcomes, need for further surgery, and lack of involvement in decision making by the affected person.
Congenital adrenal hyperplasia(CAH) is an autosomal recessive condition resulting in excess androgen production. Females are typically born with ambiguous genitalia and often undergo feminizing genitoplasty. Recently, lower urinary tract symptoms(LUTS) have been reported as a common problem in these patients. Urinary symptoms can be grouped into one of three domains; filling, voiding or incontinence.

The aim of this study was to evaluate the prevalence of LUTS in a cohort of female CAH patients who have undergone feminising genitoplasty.

All patients who had undergone their first feminizing genitoplasty related surgeries at Royal Children’s Hospital(RCH) had their records reviewed(n=80) for Prader staging, age at time of surgery, operation and complications.

Followup was attempted for all RCH female CAH patients aged 12—40 years(n=71). Contact was established with 43 women. Five declined participation, 23 completed 1 or more study components, and 15 failed to complete the study. Questionnaires and assessments were undertaken, including genital sensation tests and questions on body image and the persons perspective regarding their surgery. Controls were women of same age attending well womens clinic.

Females with CAH, aged 12-40 years, were identified from The Royal Children’s Hospital databases.

Those aged 12-15 years were assessed using the Paediatric Incontinence Symptom Index questionnaire(ISI) in conjunction with sections of the Bristol Female Lower Urinary Tract Symptoms Scored Form questionnaire (BFLUTS-SF). Those aged 16-40 years were assessed using BFLUTS-SF. Uroflowmetry studies and post-void residual(PVR) volume ultrasounds were also conducted. Previously published normative data was used for the control population.

Mean age at surgery was 15 months. Operative complications: 1 serious and 2 minor complications identified, with no correlation to age of surgery. Only 1 of the 10 patients who underwent repeat surgery required significant surgery. Standardised genital sensation assessment [CAH(n=8), and controls(n=11)] :—no difference in vibration; light touch revealed marginal increased sensation in CAH women, but otherwise with no difference in reported sensation.

Of 25 women with CAH who answered body image questions, their concern was their genitalia(n=3), obesity(n=10), steroid effect on face(n=1), hirsutism and pigmentation(n=3). In the 19 control women, weight and stretch marks(n=9), skin problems(n=3). No significant differences in responses.

When asked specifically about body image related to their genitalia: CAH population responses were: 16/20 no concerned, clitoral size(1), labial colour(1), excess labial skin(1), nonspecific concern(1). For controls:(n=19), one was mildly concerned(Fishers exact ns difference).

When women with CAH were asked about timing of their surgery, 15/21 felt early surgery was good; 4 said their surgery was ‘too late’(of these, 3⁄4 first attended RCH in adolescence); 1 each reported surgery was ‘too early’, ‘don’t know’.

43 women were invited to participate. Five declined and 23 completed one or more study components.

Three patients completed the ISI questionnaire, with one reporting symptoms of urinary incontinence. Responses to the BFLUTS-SF questionnaire indicated 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 did have a significantly increased mean PVR volume.

The complication and reoperation rates were low. Outcomes including satisfaction with surgery timing, body image and sensation was high.
Overall CAH patients also appear to have normal urinary voiding function although increased PVR volumes. Preliminary data suggests that this population of CAH patients have an increased probability of incontinence, urgency, and frequency when compared to a control population. These results confirm findings of other small studies but it remains unclear if these changes reflect the underlying diagnosis or a consequence of management.

Thanks to Leslie, Janik and Miriam for contributing to a discussion on this analysis.