Male pseudohermaphroditism: long-term quality of life outcome in five 46,XY individuals reared female.
We assessed the adult quality of life of five medical chart-selected genetic males (ages 29-34 years) assigned and reared as females due to ambiguity of the external genitalia. All five were treated following the traditional method proposed by John Money and colleagues in 1955, commonly referred to as the "optimal gender policy". The adult follow-up assessment included physical and endocrinological evaluation, completion of self-report questionnaires, and a semi-structured interview assessing gender identity, sexual experience and orientation. Quality of life domains assessed by questionnaire included health-related issues, satisfaction with health-care management, emotional distress, and relationship satisfaction. Vaginoplasty in four out of five patients was initially unsuccessful. Four patients had periodic lapses in adherence to hormone replacement therapy. Gender role behavior across development was masculine relative to norms for women. All participants reported a female gender identity without a history of gender dysphoria. The majority of participants (four of five) reported being sexually active and in long-term relationships (three heterosexual, one homosexual). Current emotional adaptation and health-related quality of life are within the normal range for four participants. Sex assignment of 46,XY individuals with ambiguous genitalia as females is compatible with a positive quality of life.
Mazur
Tom
T
Department of Pediatrics, School of Medicine & Biomedical Sciences, University at Buffalo, NY, USA. tamazur@buffalo.edu
Sandberg
David E
DE
Perrin
Megan A
MA
Gallagher
Julie A
JA
MacGilliivray
Margaret H
MH
D000328:Adult; D000342:Affective Symptoms / Q000209:etiology; D001828:Body Image; D002668:Child Rearing; D002675:Child, Preschool; D030881:Disclosure; D012734:Disorders of Sex Development / Q000209:etiology*; D015914:Estrogen Replacement Therapy; D005260:Female; D005500:Follow-Up Studies; D005783:Gender Identity; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology* / Q000523:psychology* / Q000628:therapy; D006304:Health Status; D006801:Humans; D008297:Male; D008393:Marriage; D008499:Medical Records; D017060:Patient Satisfaction; D010808:Physical Examination; D011788:Quality of Life; D012725:Sexual Behavior; D012747:Sexual Partners