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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Intersex: Four cases in one family
Journal of Pediatric Urology, Volume 3, No. 2, Year 2007
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Description
Intersex presents a unique challenge to modern medicine. Generally, patients with ambiguous genitalia present in the neonatal period. Due to functional failure of the assigned gender role, some patients may be discovered later in life, as in the presented cases. The four patients, all members of the same family and aged 23, 15, 13 and 4 years, presented with ambiguous genitalia. The family history revealed parental consanguinity and one additional case of genital ambiguity. The eldest two patients had developed gynaecomastia during puberty. Examination of the genitalia revealed penoscrotal hypospadias and bifid scrotum in all the four. Gonads were palpable bilaterally in three of the patients, but in the fourth only one gonad was palpable. Buccal smear was negative for sex chromatin in all the cases. On abdominal ultrasound Müllerian structures were found in the two eldest patients. The karyotype in all four cases was determined as 46XY. Gonadal biopsies revealed immature testicular tissue and azoospermia, as sometimes seen in cryptorchidism. We conclude that these cases should be classified as dysgenetic male pseudohermaphrodites, a rare variety of ambiguous genitalia. In agreement with the patients and their parents, they were assigned the male gender and surgery was performed accordingly. We stress the need for active involvement of patient and parents in the process of gender assignment and awareness of hasty decision making. © 2006 Journal of Pediatric Urology Company.
Authors & Co-Authors
Meijer, R. P.
Netherlands, 's-hertogenbosch
Jeroen Bosch Hospital
Groeneveld, Adam E.
Tanzania, Moshi
Kilimanjaro Christian Medical Centre
Statistics
Citations: 4
Authors: 2
Affiliations: 2
Identifiers
Doi:
10.1016/j.jpurol.2006.03.009
ISSN:
14775131
Research Areas
Health System And Policy
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Male