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ORIGINAL ARTICLE
Year : 2006  |  Volume : 22  |  Issue : 1  |  Page : 42-45
 

Female-assigned genetic males with severe hypospadias: Psychosocial changes and psychosexual treatment


Department of Urology, KLES Kidney Foundation and J N Medical College, Belgaum, Karnataka, India

Correspondence Address:
I R Ravish
Deptartment of Urology, KLES Hospital, Nehrunagar, Belgaum 590 - 010
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-1591.24653

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   Abstract 

Introduction: Disorders such as severe hypospadias presenting as ambiguous genitalia have serious and potentially life-long consequences for affected individuals and, depending on the underlying cause, are likely to entail surgery in childhood and in later life, psychosocial and psychosexual support and possible fertility treatment including assisted conception. Materials and Methods: Genetic males with severe hypospadias who were wrongly brought-up as females formed the study group. They were reassigned as males and underwent surgery for correction of hypospadias. Results: Three children with severe hypospadias were reassigned to male gender. Psychosocial changes were made psychosexual counseling was done. All three have adjusted to their new environment and gender. Conclusions: Management of children with wrongly assigned sex is complex. It is preferable to reassign these children who are genetic males but wrongly assigned as females at birth. Repair of hypospadias, psychosocial changes and psychosexual counseling will help these children to reorient themselves.


Keywords: Genetic male, hypospadias, psychosexual dysfunction


How to cite this article:
Nerli R B, Kamat S M, Ravish I R. Female-assigned genetic males with severe hypospadias: Psychosocial changes and psychosexual treatment. Indian J Urol 2006;22:42-5

How to cite this URL:
Nerli R B, Kamat S M, Ravish I R. Female-assigned genetic males with severe hypospadias: Psychosocial changes and psychosexual treatment. Indian J Urol [serial online] 2006 [cited 2019 Nov 17];22:42-5. Available from: http://www.indianjurol.com/text.asp?2006/22/1/42/24653


Intersexuality represents a rare but important group of disorders, which usually present at birth with ambiguity of the external genitalia. It is imperative that these conditions are recognized early and steps taken to identify the underlying cause as, in some cases, a delay may result in sudden collapse and death from an underlying metabolic disorder. The investigation of these cases is best managed by a team comprising a pediatric urologist, a pediatric endocrinologist, a geneticist, a radiologist, a pathologist and a clinical psychologist or pediatric psychiatrist, all of whom should have a special interest in intersexuality.

General guidelines regarding approach to the neonate with ambiguous genitalia have been laid down.[1],[2] When the phenotypic appearance of the genitalia is ambiguous, appropriate biochemical, radiographic and chromosomal studies should be completed. The degree of external virilization be carefully noted and recorded. Careful photographs be recorded. The parents need to be informed of the ambiguity and clinical investigations carried out. The parents need to be advised that a sex assignment decision will be based on the appropriate data. The child psychiatrist needs to assess the psychological effects of such ambiguity on the parents and initiate appropriate interventions. These may be supportive, educational, cognitive, or a combination of these.

The decision making process about sex assignment in the newborn with ambiguous genitalia is in a state of transition.[3] Diagnoses and etiologies of disorders of sexual differentiation can be carefully delineated using appropriate biochemical, radiographic and chromosal studies. Yet few descriptive outcome data are available and it is not at all clear that a definitive diagnosis will dictate the choice of sex of rearing.[4],[5] It is clear that errors of sexual differentiation create an unusual and unique matrix for the development of psychosexual and psychosocial vulnerabilities and disorders in such children. Psychosocial and psychosexual ramifications of sex assignment decisions are by nature complex and profound.[5],[6],[7] Longitudinal follow-up studies of homogenous target populations are only now underway.[6],[7] It is sufficient to note that sex assignment decisions will have lifelong effects on the child.

Hypospadias is one of the most common congenital urogenital problems. It also continues to be one of most challenging and gratifying problems. The newborn with severe perineal hypospadias and an abnormally small penis may present as a case of ambiguous genitalia. Such newborns should undergo early determination of sex as well as the capability for penile growth in the future. We report our experience with three children who were genetic males but wrongly assigned as females at birth, due to severe hypospadias and micropenis, which caused ambiguity in genital appearance.


   Materials and methods Top


Genetic males with severe hypospadias and small penis and wrongly assigned as females formed the study group. A detailed history including antenatal history was noted. A detailed physical examination was done. Careful measurement of the penis (stretched dorsal length and diameter), location of urethral meatus, presence of testes in the scrotum, development of scrotum, pubic hair, facial hair and the built was noted. Investigations including routine blood and urine examinations were carried out. Buccal smear for Barr bodies, abdominal ultrasonography for internal organs, hormone assays and genitourethrography were done in all. When gonads were not palpable then abdominal laparoscopy was done to note the intra abdominal gonads. Once the diagnosis of a genetic male was made, the parents were informed and counseled. Decision to bring up the children as males was made by the parents after a detailed discussion with psychiatrists, urologists, paediatricians and family physicians.

The children with their parents were informed regarding the need for genital reconstruction, reorientation of the child to male sex, need for multiple sessions of surgery, failure of surgery and eventual outcome. Social changes were advised, such as, changing over to a boy's school, hair cut and a male name. Relocating the child to newer environment, change of residence, change of school was advised to reduce peer pressure.

Correction of external genitalia was planned in stages. Children received four intramuscular injections of testosterone depot (100 mg/m 2 every 2 weeks). Repair of hypospadias was done either in one or multiple stages. Orchiopexy for undescended testes was done simultaneously.The child and the family were provided with appropriate psychosocial support. Questions about gender and sexuality are extremely anxiety provoking and emotionally upsetting, hence the family was kept well informed and were involved in the entire decision making process. The psychosocial support was begun with a counselor who explained the etiology and genetics. A child psychiatrist or child psychologist was involved in giving emotional support to the family and facilitating communication between the family and the medical team.


   Results Top


During the period January 2000 to July 2004, three children presented to us with history of virilization and/or abnormal genitalia. All three children were brought up as girls and all three came from lower middle class families

Case 1

A 6-year-old girl child was brought to the Urology OPD with history of large clitoris. The child was the last of six children, with three elder brothers and two elder sisters. All the other siblings were normal. The child was shy and appeared timid. Examination revealed that the child had perineal hypospadias with bifid scrotum and small penis with severe chordee. Testes were palpable bilaterally, but of small volume. The right testes was retractile. Abdominal ultrasonography revealed no abnormality. Genitourethrography revealed a normal proximal urethra. The case was discussed with the parents and elder brother. The child underwent psychiatric evaluation. Paediatricians, Psychiatrist, endocrinologist and social workers were involved in making a decision of sex reassignment. The parents strongly felt that the child needs to be brought up as a male. The child was put on hormonal treatment. The child's name was changed; the child was admitted in a school at his maternal uncle's place. The child underwent multiple sessions with the clinical and child psychologist. Over a period of 6 months the child started accepting his gender. Hypospadias surgery was done in two stages. The child has been on follow up since then. The child is still shy and does feel awkward in a boy's dress. The child has male friends though not aggressive in playing with them.

Case 2

A 11-year-old girl presented with genital virilization. On examination, the child had severe perineal hypospadias with small penis. The child had bifid scrotum with the right testes not palpable. The child was male on investigation. The child and his parents were inclined towards reassignment of gender sex to male. The child underwent counseling and hypospadias repair. Right-sided laparoscopic orchiopexy was done in the same sitting.

Case 3

A 13-year-old child presented to urology OPD with history of fascial hair and genital virilization. The child preferred dressing as a male and liked to play with male children. On examination, the child had severe perineal hypospadias with a small penis and bilateral small testes. This child and her parents readily agreed to reassignment to male gender. The child underwent counseling and hypospadias repair.

All the three children are on follow up of more than 15 months. They have been attending school as male children and have become well adjusted to their newer identity. The older two children have been experiencing erections and all three are having good urinary flow. The two older children have been playing with other boys and are comfortable in their new identity. The smallest of the three has overcome his shyness over a period of 12-15 months.


   Discussion Top


Gender assignment or re-assignment poses some of the most emotive and contentious ethical dilemmas encountered in any area of medical practice. To the layperson this is straightforward, as overwhelming majority of the human race can be easily identified as male or female by virtue of their genital anatomy, secondary sexual characteristics and behavior. Arriving at a satisfactory scientific definition is more difficult as gender reflects the outcome of complex interactions occurring from the time of conception and extending throughout pre and postnatal life. Behavior and gender identity is perhaps the most complex and certainly the least well understood. It raises controversial issues about the relative importance of 'nature vs . nurture' and more specifically the concept of the male or female brain. The determinants of gender-related behavior patterns can be arbitrarily subdivided into neuroendocrine factors (principally the effects of testosterone on the brain) and sociocultural factors, which include rearing, interaction with siblings and peers and the culture to which the individual is exposed.

Management of children with wrongly assigned gender is complex. Not much material is available in literature regarding management of children with wrongly assigned gender. Questions arise as to whether these children need to be reassigned for gender sex. The criteria for reassigning gender in such children are strongly dependent on local culture. This effect has been particularly studied in multicultural nation of Malaya. Amongst muslim malays, women can have a prominent role in public life, inherit money and property and, in some areas, determine the line of family descent. Amongst Indian and Chinese families, women are a considerable financial burden and society revolves around the male members of the community.[8] Similarly, in India, society is said to be happier to accept an inadequate male rather than an inadequate female.[9] It is self-evident that a small infant or child who is female assigned genetic male with hypospadias cannot contribute to decisions relating to gender assignment, nor provide informed consent for any genital surgery. Until very recently therefore it was accepted that responsibility for these difficult decisions lay with the parents, in the light of advice and information received from doctors caring for their child. However, this approach has been strongly challenged by some patient groups and ethicists who assert that responsibility for this decision belongs, as a right, to the affected individual. In their view gender assignment/reassignment and surgery should be deferred until such an age when the individual can make informed decisions.[10] In our three patients, the decision to reassign to male gender and do reconstructive surgery was made by the parents after discussions with the treating urologists, psychiatrists and pediatricians. Two of these children who were more than 10-year old also participated in making this decision. One other child who was only 6-year old could not understand the relevance of the discussion and was a passive to his parents' decision.

Some authors feel that the first step in managing these children is to make a casual diagnosis as soon and as accurately as possible, to determine the different elements that must be considered in deciding to rear the patient as a male or a female.[11] This requires a strategy of clinical and biological investigations, including molecular biological techniques and specific imaging. Schematically, it is mandatory to make an anatomical description of the external genitalia as completely as possible. The second step is to investigate the quality of testicular synthesis (from leydig to  Sertoli cells More Details) and equally important to evaluate the action of testosterone on its target organs, the external genitalia in particular. At each step the parents must be informed on the different therapeutic options. Test of sensitivity to androgens is very useful not only for diagnostic purposes but also to provide arguments for making the decision about the sex of rearing. Failure to respond indicates a complete resistance to the action of androgens, while a positive response is a clear increased length or diameter of the penis.[11]

Sixteen genetic males with cloacal exstrophy who underwent neonatal assignment to female sex socially, legally and surgically were assessed. Detailed questionnaires extensively evaluated the development of sexual role and identity as defined by the subject's persistent declarations of their sex.[12] Eight of the 14 subjects assigned to female sex declared themselves male during the couse of this study, whereas the two raised as males remained male. Five subjects were living as females; three were living with unclear sexual identity, although two of the three had declared themselves male. Eight were living as males, six of whom had reassigned themselves to male sex. All 16 subjects had moderate to marked interests and attitudes that were considered typical of males. The authors concluded that routine neonatal assignment of genetic males to female sex because of severe phallic inadequacy can result in unpredictable sexual identification. Clinical interventions in such children should be reexamined in the light of these findings. The parents of each of the eight subjects living as male - including the two raised as male - felt that their child was happy living as a boy.[12]

The divergent sexual outcomes of such subjects highlight issues of clinical concern.

First, how would subjects who remained females would react if they discover their birth status in the future. All genetic males with hypospadias have normal gonads hence require only genital reconstruction. Prenatal androgens appear to be a major biologic factor in the development of male sexual identity. The specific actions of androgen on the developing brain as well as the specific mechanisms of the development of male sex itself remain largely unknown and the epigenetic processes as well as socially mediated influences remain indeterminate.[13],[14] In view of these findings, it is preferable to reassign these children who are genetic males with hypospadias but wrongly assigned to female sex. Genital reconstruction in the form of hypospadias repair, psychosocial changes and psychosexual counseling will help in managing these children. In children with most severe hypospadias there is a considerable overlap with intersex abnormalities such as micropenis. Even with hypospadias as severe as this intercourse still occurs. In a series of 19 patients born with ambiguous genitalia, subsequently determined to be caused by perineal hypospadias, it was reported that 12 had had intercourse, but only four had a regular partner.[15] Men with a very small penis can have satisfying sexual intercourse with female partners. It seems therefore that an abnormal or rudimentary phallus can form the basis for sexual activity in a male role. Nothing is known of the satisfaction of their partners, but it would be unreasonable to base decisions on the opinions of a putative partner some years in the future.

Reconstructive surgery has been the standard of care for patients with hypospadias. Hypospadias surgery remains a difficult challenge, as several factors contributing to success remain unknown. In the medical sense the goals of management of hypospadias could be defined as restoring normality by reconstructing normal external genital anatomy and by ensuring the development of normal secondary sex characteristics in such a way as to permit normal sexual function (arousal, sensation, penetrative intercourse and orgasm) and the potential for fertility. However, despite developments in recent decades and ongoing research it is clear that for the foreseeable future, these ambitious goals are likely to remain unachievable for many patients.


   Conclusion Top


Assignment of genetic males to female sex because of severe hypospadias and phallic inadequacy can result in unpredictable sexual identification. Androgens have long been thought to influence prenatal brain development as well as postpubertal activity, interests and libido. The ability of androgen to act on target tissues in utero could affect subsequent sexual identity. Children who are genetic males with severe hypospadias but wrongly assigned females at birth should be reassigned as males. Psychosocial changes in environment, school, home and relations must be made. Psychosexual counseling and orientation will help the children to cope with their new identity.

 
   References Top

1.Bradley SJ, Oliver GD, Chernik AB, Zucker KJ. Experiment of nurture: ablation penis at 2 months, sex reassignment at 7 months and a psychological follow-up in young adulthood. Pediatrics 1998;102:132-3.  Back to cited text no. 1    
2.Glassberg KI. The intersex infant: early gender assignment and surgical reconstruction. J Pediatr Adolesc Gynecol 1998;11:151-4.  Back to cited text no. 2  [PUBMED]  
3.Wilson BE, Reiner WG. Management of intersex; A shifting paradigm. J Clin Ethics 1998;9:360-9.  Back to cited text no. 3  [PUBMED]  
4.Reiner WG. Sex assignment in the neonate with intersex or inadequate genitalia. Arch Pediatr Adolesc Med 1997;151:1044-5.  Back to cited text no. 4  [PUBMED]  
5.Reiner WG. Assignment of sex in neonates with ambiguous genitalia. Curr Opin Pediatr 1999;11:363-5.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]
6.Reiner WG. Psychosexual dysfunction in males with genital anomalies: Pre- and early adolescence, Tanner stages I-III. 2000.  Back to cited text no. 6    
7.Reiner WG, Meyer-Bahlburg HF, Gearhart JP. Female assigned genetic males: Androgens and male gender identity. 2000.  Back to cited text no. 7    
8.Kuhnle U, Krahl W. The impact of culture on sex assignment and gender development in intersex patients. Perspectives Biol Med 2002;45;85-103.  Back to cited text no. 8    
9.Gupta DK, Menon PS. Ambiguous genitalia-an Indian perspective. Indian J Pediatr 1997;64:189-94.   Back to cited text no. 9    
10.Thomas DF. Gender assignment: Background and current controversies. Br J Urol 2003;93:47-50.  Back to cited text no. 10    
11.Nicolino M, Bendelac N, Jay N, Forest MG, David M. Clinical and biological assessments of the undervirilized male. Br J Urol 2003;93:20-5.  Back to cited text no. 11    
12.Reiner WG, Gearhart JP. Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. NEJM 2004;350:333-41.  Back to cited text no. 12  [PUBMED]  [FULLTEXT]
13.Wilson JD. The role of androgens in male gender role behavior. Endocr Rev 1999;20:726-37.  Back to cited text no. 13  [PUBMED]  [FULLTEXT]
14.Berenbaum SA, Bailey JM. Effects on gender identity of prenatal androgens and genital appearance: evidence from girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2003;88:1102-6.  Back to cited text no. 14  [PUBMED]  [FULLTEXT]
15.Miller MA, Grant DB. Severe hypospadias with genital ambiguity: adult outcome after staged hypospadias repair. Br J Urol 1997;80:485-8.  Back to cited text no. 15  [PUBMED]  




 

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