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A Newborn Infant with a Disorder of Sexual Differentiation*

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A Newborn Infant with a Disorder of Sexual Differentiation* A Newborn Infant With a Disorder of Sexual Differentiation* CASE about the complexity of gender identity and gender Following an uncomplicated 38-weeks pregnancy, role, bioethical considerations, and the influence of a normal labor, and delivery with Apgar scores 8 and patient-advocacy groups. These recent consider- 9 at 1 and 5 minutes, respectively, a newborn was ations are of interest to developmental-behavioral delivered with a birth weight of 6 pounds 5 ounces. pediatricians in that they focus on critical aspects of The physical examination was unremarkable except subsequent developmental outcomes. for complete absence of the penis. The scrotum ap- Dr David Sandberg and Dr Tom Mazur are pedi- peared normal with bilateral palpable gonads of nor- atric psychologists who specialize in the care of chil- mal size. A voiding cystourethrogram demonstrated dren and adolescents with endocrine disorders. They a normal bladder without uretero-vesical reflux; the are members of a comprehensive clinical manage- contrast study revealed that urine partially emptied ment team in pediatric endocrinology at the Chil- into the rectum and colon. The urethral meatus was dren’s Hospital of Buffalo, New York, and the De- positioned at the anterior anal verge. Karyotype was partments of Psychiatry and Pediatrics, University at 46,XY. This is the third child for this couple. They Buffalo School of Medicine and Biomedical Sciences. have a 4-year-old boy and a 6-year-old girl. Drs Sandberg and Mazur are involved in clinical To which sex should this infant be assigned? Ac- research on the psychological adaptation of individ- companying decisions concern disclosure of infor- uals with a variety of endocrine-related conditions mation to patient and family (what should be dis- and their families. Dr Erica Eugster is a Clinical closed about the condition and its treatment and Associate Professor of Pediatrics in the Section of when?); surgery to have the genitalia match the sex Pediatric Endocrinology at the Riley Hospital for assignment, or alternatively, female genital anatomy Children in Indianapolis, Indiana. Dr Jorge Daaboul (what should be done and when?); psychological is an Assistant Professor of Pediatrics in the Division support of the patient and family (who should pro- of Pediatric Endocrinology at the University of Flor- vide it, and what model of care should be followed?); ida (Gainesville), College of Medicine. Dr Daaboul and involvement of other family members and has studied ethical issues that impact the early deci- friends (should they be told, and if so, what should sion-making in children with intersex conditions. they be told and when?). Martin T. Stein, MD Professor of Pediatrics INDEX TERMS. ambiguous genitalia, sex differentiation, intersex, bio- University of California medical ethics, penile agenesis. Children’s Hospital San Diego San Diego, California Dr Martin T. Stein This Challenging Case is a rare condition that will Drs David E. Sandberg and Tom Mazur not be encountered by most pediatricians. However, Don’t be fooled—this rare case has more to teach it represents a dramatic example of other more com- than you might think! The infant is born with the mon conditions discovered in the newborn period extremely rare condition of penile agenesis (also associated with ambiguous genitalia. Primary care known as aphallia). Mortality is high because of as- pediatricians are often the first to recognize the struc- sociated urinary and gastrointestinal tract problems; tural abnormalities in the external genitalia and the however, complex forms of these associations are first to speak to the parents about the condition. A absent in this particular infant. Although rare, the knowledge of genetic and endocrinologic principles case illustrates common challenges in the clinical that modulate fetal sex differentiation is essential but care of patients with disorders of sexual differentia- insufficient to provide comprehensive information to tion (“intersex”), in whom there is discordance the parents. The influence of fetal sex hormones on among sex chromosomes, gonads, sex hormones, gender identity and the incorporation of principles of and phenotypic sex (internal reproductive structure patient rights and patient autonomy are additional and external genital appearance).1 These conditions areas of knowledge required to guide therapeutic include true hermaphroditism (in which both ovar- decision-making. ian and testicular tissue are present in the same or A variety of new concepts about newborns with opposite gonads); 46,XX individuals with congenital intersex conditions have surfaced in the medical and adrenal hyperplasia, particularly those born with bioethical literature. They reflect recent knowledge marked or complete masculinization of the external genitalia; 46,XY individuals with partial androgen insensitivity; 46,XY individuals with 5-␣-reductase * Originally published in J Dev Behav Pediatr. 2003;24:115–119. doi:10.1542/peds.2004-1721O deficiency; 46,XY individuals with a very small but PEDIATRICS (ISSN 0031 4005). Copyright © 2004 by the American Acad- normally formed penis (micropenis) or malformed emy of Pediatrics and Lippincott Williams & Wilkins. penis (microphallus); and 46,XY individuals with Downloaded from www.aappublications.org/newsPEDIATRICS by guest on September Vol.114 29, 2021 No. 5 November 2004 1473 cloacal exstrophy. The prevalence rate for these con- line occupational and recreational interests and a ditions combined may be as high as 1 of 3000.2 bisexual orientation. Until the mid-1950s, medical management of indi- A second challenge to the “optimal gender” policy viduals with intersex conditions was guided by the comes from intersex individuals themselves, who are belief that an individual’s “true sex” could be re- angry about their treatment.10 They object to the fact vealed through examination of internal anatomy. It that they were either not informed or misinformed was assumed that a person’s identification as male or about their condition, they are still unable to obtain female would naturally conform to “true sex.” Based accurate information about their condition and treat- on reports suggesting that this assumption was in- ment, and they feel stigmatized and shamed by the correct, guidelines were changed, and sex-assign- secrecy surrounding their condition and its manage- ment decisions were based on the principle of “op- ment. Many also attribute poor sexual function to timal gender,” which considered multiple aspects of damaging genital surgery and repeated and insensi- outcome, most prominently potential for complete tive genital examinations, both of which were per- sexual functioning.3 This approach, which stood formed without their consent. largely uncontested until recently, is predicated on 2 Finally, social constructionists have challenged the assumptions4:(a) “gender identity” (ie, identification entire enterprise of medical management of intersex of self as either girl/woman or boy/man) is not cases by arguing that medical practices are rooted in firmly established at birth but rather is the outcome history, language, politics, and culture and therefore of rearing sex; and (b) stable gender identity and are not universal scientific facts.10 Thus, the “correc- positive psychological adaptation require that geni- tion” of an intersexed infant’s genitals is less a med- tal appearance match assigned sex, which often calls ical emergency than it is the adoption of medical for reconstructive genital surgery. It is essential to technology to support a cultural imperative to view distinguish between gender identity and other as- the sexes as dichotomous. Supporters of this point of pects of gender-related behavior, which may be in- view contend that such beliefs result in unnecessary fluenced by prenatal hormones. This includes “gen- and damaging surgery. der role,” which refers to behaviors that differ in How should a decision regarding sex assignment frequency or level between males and females in this be reached in the present case? Until recently, most culture and time (such as toy play or maternal inter- children with aphallia would receive a female sex est), and “sexual orientation,” which refers to sexual assignment. Accordingly, the testicles would be re- arousal to individuals of the same sex (homosexual), moved and genital surgery performed to create the opposite sex (heterosexual), or both sexes (bisexual). outward appearance of female genitalia, that is, labia The clinical approach to disorders of sexual differ- and clitoris. Surgical construction of a vagina might entiation (“optimal gender policy”) has recently been be performed at this time or be postponed until criticized from several perspectives. First, the notion of gender “neutrality” at birth has been challenged as adolescence. A feminizing puberty (development of a result of a widely publicized case.5 The individual breasts and feminine body) would be achieved in this case has a 46,XY karyotype and was born with through the administration of estrogen therapy be- normally formed male genitalia. After a circumcision ginning in the early teenage years. It has been accident at the age of 7 months left him without a thought that this approach would maximize the in- penis, the child’s gender was reassigned but not until dividual’s psychological adaptation, including gen- 17 months, and the child was subsequently reared as der identity, body image, and sexual function. Con- a girl. This individual (referred to as “John/Joan”)
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