Ethical issues in the evaluation and treatment of disorders of sex development © Copyright 2010

In 2006, a Consensus Conference on the Management of Intersex Disorders recommended changes in both clinical practice and in terminology. These changes reflected changes in medical, psychological, and ethical frameworks. - Lee PA et al. Pediatrics 2006.

Before 2006, many terms were used. e.g. intersex, ambiguous genitalia, hermaphrodite The Consensus Conference recommended that all of these conditions be referred to as “disorders of sex development.” (DSD) Lee PA et al. Pediatrics

Why the change? Two cases changed the way we think about these syndromes David Reimer Cheryl Chase

David Reimer -A botched circumcision at 8 months of age -Doctors could not salvage his penis, and decided that he should be made into a girl. -Testes removed, vaginoplasty done. -At puberty, Reimer was given estrogen.

-At 14, David refused his medication and rejected his gender assignment. -He had a mastectomy and phalloplasty, and started taking testosterone. - He developed a male identity -Married and adopted his wife’s children. - David Reimer killed himself in 2004 – at age 39. David Reimer Diamond M et al. Arch Ped Adolesc Med. 1997

Cheryl Chase - Cheryl Chase (b.1956) originally thought to be a boy. -At 18 months, surgery revealed a uterus and ovotestes. -Doctors removed her enlarged clitoris and recommended that she be raised as a girl. - After years of bitterness and struggle about the way she was treated, Chase founded the Intersex Society of North America to lobby for a new approach to intersex. Weil E. New York Times

Shifting paradigms Reimer’s case led to questions about the conventional wisdom that, without a functioning penis, a child can only be a girl. Cheryl Chase’s case raised questions about whether gender assignment must be permanent.

The Old Paradigm Anatomy determines psychology and gender. "The decision to raise the child as a male centers around the potential for the phallus to function adequately in later sexual relations.” Duckett JW. Arch Peds Adolesc Med

"Because it is simpler to construct a vagina than a satisfactory penis, only the infant with a phallus of adequate size should be considered for a male gender assignment.” Duckett JW. Arch Peds Adolesc Med

The New Paradigm Anatomy is less important than culture. Gender assignment can be fluid. Decisions should be made only after evaluation by a multidisciplinary team, and should always be seen as provisional.

How common are DSDs? About 1/2,000 births Many underlying causes. Most common is congenital adrenal hyperplasia (CAH.) Hughes IA. Endocr Dev Blackless M et al. Am J of Hum Biol

Current recommendations 1. Gender assignment must be avoided before expert, multidisciplinary evaluation in newborns 2. Evaluation and long-term management must be performed at a center with an experienced multidisciplinary team (cont’d) Lee PA et al. Peds

Evaluation of DSDs (cont’d) 3. All individuals should receive a gender assignment. 4. Open communication with patients and families is essential, and participation in decision-making is encouraged. 5. Patient and family concerns should be respected and addressed in strict confidence. Lee PA et al. Peds

Current controversy - How urgent is surgery? - How do we weigh the benefits of surgery against the risks?

Reasons for early surgery - “Normalization” of genitals provides psychological relief to parents - Atypical genitals may provoke teasing and gossip - Surgery best done early, because infants heal more quickly than older children

Parental anxiety “Postponing surgery until a child can consent in theory sounds great. But there’s a huge psychological impact to this. Most parents just want it fixed.” - John Gatti, M.D., urological surgeon, Children’s Mercy Hospital “ I used to say everyone has to wait - until I saw this mother who was not going to bond (with a baby with enlarged clitoris). I’ve relaxed a little bit.” - Jill Jacobson M.D., endocrinologist, Children’s Mercy Hospital

Concerns about early surgery - Hard to predict whether appearance will causes problems for a particular child - Genital surgery may impair future sexual function -Early surgery may interfere with a later sex-change operation

Outcome studies ambiguous Some studies show that early surgery leads to good anatomic and psychosocial outcomes Other studies show the opposite

Study reporting good outcomes - Study population: 41 children with DSD, - 19 raised as boys, 22 as girls, - All had surgery, at an average age of 13.2 months - Evaluated at 5-10 years of age using parent and self-report of quality of life. Crawford J et al. J Ped Surg

Good outcomes - Girls had good (85%) or satisfactory (15%) anatomical/cosmetic outcome - 52% boys had good, 38% satisfactory, and 10% poor cosmetic outcomes. Crawford J et al. J Ped Surg

Good outcomes - 1/19 boys and 3/19 girls at risk of gender identity disorder. - Quality-of-life scores were better in girls, but good in both groups. - CONCLUSIONS: Early intervention is generally associated with positive outcomes for patients and parents.

Not so good outcomes - Retrospective review, 85 children, all of whom had surgery. - 75% raised female, 25% raised male - Mean age at surgery: 4.4 years - 32% required further surgery. Conclusion: Better to delay surgery until adolescence. Gollu et al. J Ped Surg

Not so good outcomes - 44 patients who had feminizing surgery. - Mean age at first surgery – 0.8 years. - 59% had good cosmetic appearance, - 66% were judged likely to need further surgery. Creighton et al. Lancet

Surgery and sexual function 28 women born with ambiguous genitalia. 18 had early surgery, 10 did not. Early surgery group reported more problems with sexual sensation and function than did women without surgery. Impaired sexual sensation(%) No orgasms Clitoral surgery No surgery Minto CL et al. Lancet

Surgery and sexual function 19 CAH patients, 15 had surgery, 4 did not Patients who had surgery had more sexual problems, including anorgasmia, difficulty with penetration, and infrequent intercourse (data on next slide) Crouch NS. Urol

Interpreting the studies - Different results from different protocols in different populations. - Few untreated controls, no randomized trials. - Some patients do well. Others have problems. Difficult to draw conclusions from the data.

“There is an assumption that early genital surgery reduces the risk of psycho-social problems. But we have no evidence that raising a child with a big clitoris produces psychosocial risk.” - Alice Dreger, professor of clinical medical humanities and bioethics, Northwestern University, author of Hermaphrodites and the Medical Invention of Sex

Delaying surgery keeps options open Early surgery can involve removing genital tissue or other changes that would be difficult to reverse later. “We don’t want to lose a lot of tissue. In case the child wants a sex-change operation later, we want the tissue to be available.” - Jill Jacobson, endocrinologist at Children’s Mercy Hospital

Does every child need to be one gender or the other?

Some babies have bodies “that evidently mix together anatomical components conventionally attributed to both males and females. “Modern surgical techniques help maintain the two-sex system. Today children who are born ‘either/or-neither/both’ usually disappear from view because doctors ‘correct’ them right away with surgery.” - Fausto Sterling, Sexing the Body: Gender Politics and the Construction of Sexuality

One inarguable conclusion Regardless of decisions about surgery or other treatment, there is now broad agreement that patients do best when told the truth of their medical past and current condition.

No more secrets “The aspects of secrecy, untruthfulness, and concealment were… most difficult and burdening.” Brinkmann L et al. Sex Med

“The shame and stigma that secrecy and deception breed could be more psychologically scarring than the truth.” Diamond M et al. Nat Clin Prac Endocrinol Metabol

Resources Dreger A. Gender Identity Disorder in Childhood: Inconclusive Advice to Parents. Hastings Center Report. 2009;39(1): Gender Identity Disorder in Childhood: Inconclusive Advice to Parents Frader J et al. Health-Care Professionals and Intersex Conditions. Arch Peds Adolesc Med May;158(5): Health-Care Professionals and Intersex Conditions Gastaud F et al. Impaired Sexual and Reproductive Outcomes in Women with Classical Forms of Congenital Adrenal Hyperplasia. J Clin Endocrinol Metabol. 2007;92(4): Impaired Sexual and Reproductive Outcomes in Women with Classical Forms of Congenital Adrenal Hyperplasia. Houk P et al. Summary of Consensus Statement on Intersex Disorders and Their Management. Peds Aug;118(2): Summary of Consensus Statement on Intersex Disorders and Their Management Johannsen TH et al. Clinical Study: Quality of life in 70 women with disorders of sex development. Euro J Endocrinol (6): Clinical Study: Quality of life in 70 women with disorders of sex development Minto CL et al. The Effect of Clitoral Surgery on Sexual Outcome in Individuals Who Have Intersex with Ambiguous Genitalia. Lancet Apr 12;361(9365): The Effect of Clitoral Surgery on Sexual Outcome in Individuals Who Have Intersex with Ambiguous Genitalia Parens E. Surgically Shaping Children: Technology, Ethics and the Pursuit of Normality. Johns Hopkins University Press Surgically Shaping Children: Technology, Ethics and the Pursuit of Normality Weil E. What if It’s (Sort of) a Boy and (Sort of) a Girl? New York Times. Sept. 24, 2006What if It’s (Sort of) a Boy and (Sort of) a Girl?