Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals

long-term medical, surgical, and psychosexual outcome.

Claude J. Migeon, Amy B. Wisniewski, John P. Gearhart, Heino F L Meyer-Bahlburg, John A. Rock, Terry R. Brown, Samuel J. Casella, Alexander Maret, Ka Ming Ngai, John Money, Gary Berkovitz

Research output: Contribution to journalArticle

167 Citations (Scopus)

Abstract

OBJECTIVES: To identify and study adults (21 years or older) who have a 46,XY karyotype and presented as infants or children with genital ambiguity, including a small phallus and perineoscrotal hypospadias, reared male or female. METHODS: Participants were classified according to the cause underlying their intersex condition based on review of medical and surgical records. Long-term medical and surgical outcome was assessed with a written questionnaire and physical examination. Long-term psychosexual development was assessed with a written questionnaire and semistructured interview. RESULTS: Thirty-nine (72%) of 54 eligible patients participated. The cause underlying genital ambiguity of participants included partial androgen insensitivity syndrome (n = 14; 5 men and 9 women), partial gonadal dysgenesis (n = 11; 7 men and 4 women), and other intersex conditions. Men had significantly more genital surgeries (mean: 5.8) than women (mean: 2.1), and physician-rated cosmetic appearance of the genitalia was significantly worse for men than for women. The majority of participants were satisfied with their body image, and men and women did not differ on this measure. Most men (90%) and women (83%) had sexual experience with a partner. Men and women did not differ in their satisfaction with their sexual function. The majority of participants were exclusively heterosexual, and men considered themselves to be masculine and women considered themselves to be feminine. Finally, 23% of participants (5 men and 4 women) were dissatisfied with their sex of rearing determined by their parents and physicians. CONCLUSIONS: Either male or female sex of rearing can lead to successful long-term outcome for the majority of cases of severe genital ambiguity in 46,XY individuals. We discuss factors that should be considered by parents and physicians when deciding on a sex of rearing for such infants.

Original languageEnglish
JournalPediatrics
Volume110
Issue number3
StatePublished - Sep 1 2002
Externally publishedYes

Fingerprint

Disorders of Sex Development
Hypospadias
Physicians
Psychosexual Development
Parents
Gonadal Dysgenesis
Androgen-Insensitivity Syndrome
Genitalia
Body Image
Heterosexuality
Karyotype
Cosmetics
Physical Examination
Medical Records
Interviews

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Migeon, C. J., Wisniewski, A. B., Gearhart, J. P., Meyer-Bahlburg, H. F. L., Rock, J. A., Brown, T. R., ... Berkovitz, G. (2002). Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics, 110(3).

Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals : long-term medical, surgical, and psychosexual outcome. / Migeon, Claude J.; Wisniewski, Amy B.; Gearhart, John P.; Meyer-Bahlburg, Heino F L; Rock, John A.; Brown, Terry R.; Casella, Samuel J.; Maret, Alexander; Ngai, Ka Ming; Money, John; Berkovitz, Gary.

In: Pediatrics, Vol. 110, No. 3, 01.09.2002.

Research output: Contribution to journalArticle

Migeon, CJ, Wisniewski, AB, Gearhart, JP, Meyer-Bahlburg, HFL, Rock, JA, Brown, TR, Casella, SJ, Maret, A, Ngai, KM, Money, J & Berkovitz, G 2002, 'Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome.', Pediatrics, vol. 110, no. 3.
Migeon CJ, Wisniewski AB, Gearhart JP, Meyer-Bahlburg HFL, Rock JA, Brown TR et al. Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome. Pediatrics. 2002 Sep 1;110(3).
Migeon, Claude J. ; Wisniewski, Amy B. ; Gearhart, John P. ; Meyer-Bahlburg, Heino F L ; Rock, John A. ; Brown, Terry R. ; Casella, Samuel J. ; Maret, Alexander ; Ngai, Ka Ming ; Money, John ; Berkovitz, Gary. / Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals : long-term medical, surgical, and psychosexual outcome. In: Pediatrics. 2002 ; Vol. 110, No. 3.
@article{56d5b121a74a4d93a6c3d9154f9401a3,
title = "Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals: long-term medical, surgical, and psychosexual outcome.",
abstract = "OBJECTIVES: To identify and study adults (21 years or older) who have a 46,XY karyotype and presented as infants or children with genital ambiguity, including a small phallus and perineoscrotal hypospadias, reared male or female. METHODS: Participants were classified according to the cause underlying their intersex condition based on review of medical and surgical records. Long-term medical and surgical outcome was assessed with a written questionnaire and physical examination. Long-term psychosexual development was assessed with a written questionnaire and semistructured interview. RESULTS: Thirty-nine (72{\%}) of 54 eligible patients participated. The cause underlying genital ambiguity of participants included partial androgen insensitivity syndrome (n = 14; 5 men and 9 women), partial gonadal dysgenesis (n = 11; 7 men and 4 women), and other intersex conditions. Men had significantly more genital surgeries (mean: 5.8) than women (mean: 2.1), and physician-rated cosmetic appearance of the genitalia was significantly worse for men than for women. The majority of participants were satisfied with their body image, and men and women did not differ on this measure. Most men (90{\%}) and women (83{\%}) had sexual experience with a partner. Men and women did not differ in their satisfaction with their sexual function. The majority of participants were exclusively heterosexual, and men considered themselves to be masculine and women considered themselves to be feminine. Finally, 23{\%} of participants (5 men and 4 women) were dissatisfied with their sex of rearing determined by their parents and physicians. CONCLUSIONS: Either male or female sex of rearing can lead to successful long-term outcome for the majority of cases of severe genital ambiguity in 46,XY individuals. We discuss factors that should be considered by parents and physicians when deciding on a sex of rearing for such infants.",
author = "Migeon, {Claude J.} and Wisniewski, {Amy B.} and Gearhart, {John P.} and Meyer-Bahlburg, {Heino F L} and Rock, {John A.} and Brown, {Terry R.} and Casella, {Samuel J.} and Alexander Maret and Ngai, {Ka Ming} and John Money and Gary Berkovitz",
year = "2002",
month = "9",
day = "1",
language = "English",
volume = "110",
journal = "Pediatrics",
issn = "0031-4005",
publisher = "American Academy of Pediatrics",
number = "3",

}

TY - JOUR

T1 - Ambiguous genitalia with perineoscrotal hypospadias in 46,XY individuals

T2 - long-term medical, surgical, and psychosexual outcome.

AU - Migeon, Claude J.

AU - Wisniewski, Amy B.

AU - Gearhart, John P.

AU - Meyer-Bahlburg, Heino F L

AU - Rock, John A.

AU - Brown, Terry R.

AU - Casella, Samuel J.

AU - Maret, Alexander

AU - Ngai, Ka Ming

AU - Money, John

AU - Berkovitz, Gary

PY - 2002/9/1

Y1 - 2002/9/1

N2 - OBJECTIVES: To identify and study adults (21 years or older) who have a 46,XY karyotype and presented as infants or children with genital ambiguity, including a small phallus and perineoscrotal hypospadias, reared male or female. METHODS: Participants were classified according to the cause underlying their intersex condition based on review of medical and surgical records. Long-term medical and surgical outcome was assessed with a written questionnaire and physical examination. Long-term psychosexual development was assessed with a written questionnaire and semistructured interview. RESULTS: Thirty-nine (72%) of 54 eligible patients participated. The cause underlying genital ambiguity of participants included partial androgen insensitivity syndrome (n = 14; 5 men and 9 women), partial gonadal dysgenesis (n = 11; 7 men and 4 women), and other intersex conditions. Men had significantly more genital surgeries (mean: 5.8) than women (mean: 2.1), and physician-rated cosmetic appearance of the genitalia was significantly worse for men than for women. The majority of participants were satisfied with their body image, and men and women did not differ on this measure. Most men (90%) and women (83%) had sexual experience with a partner. Men and women did not differ in their satisfaction with their sexual function. The majority of participants were exclusively heterosexual, and men considered themselves to be masculine and women considered themselves to be feminine. Finally, 23% of participants (5 men and 4 women) were dissatisfied with their sex of rearing determined by their parents and physicians. CONCLUSIONS: Either male or female sex of rearing can lead to successful long-term outcome for the majority of cases of severe genital ambiguity in 46,XY individuals. We discuss factors that should be considered by parents and physicians when deciding on a sex of rearing for such infants.

AB - OBJECTIVES: To identify and study adults (21 years or older) who have a 46,XY karyotype and presented as infants or children with genital ambiguity, including a small phallus and perineoscrotal hypospadias, reared male or female. METHODS: Participants were classified according to the cause underlying their intersex condition based on review of medical and surgical records. Long-term medical and surgical outcome was assessed with a written questionnaire and physical examination. Long-term psychosexual development was assessed with a written questionnaire and semistructured interview. RESULTS: Thirty-nine (72%) of 54 eligible patients participated. The cause underlying genital ambiguity of participants included partial androgen insensitivity syndrome (n = 14; 5 men and 9 women), partial gonadal dysgenesis (n = 11; 7 men and 4 women), and other intersex conditions. Men had significantly more genital surgeries (mean: 5.8) than women (mean: 2.1), and physician-rated cosmetic appearance of the genitalia was significantly worse for men than for women. The majority of participants were satisfied with their body image, and men and women did not differ on this measure. Most men (90%) and women (83%) had sexual experience with a partner. Men and women did not differ in their satisfaction with their sexual function. The majority of participants were exclusively heterosexual, and men considered themselves to be masculine and women considered themselves to be feminine. Finally, 23% of participants (5 men and 4 women) were dissatisfied with their sex of rearing determined by their parents and physicians. CONCLUSIONS: Either male or female sex of rearing can lead to successful long-term outcome for the majority of cases of severe genital ambiguity in 46,XY individuals. We discuss factors that should be considered by parents and physicians when deciding on a sex of rearing for such infants.

UR - http://www.scopus.com/inward/record.url?scp=0036717190&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036717190&partnerID=8YFLogxK

M3 - Article

VL - 110

JO - Pediatrics

JF - Pediatrics

SN - 0031-4005

IS - 3

ER -