complete sex reversal: sry positive 46,XX male by Y to X translocation
| Autor: | C. Dumitrescu, Cornel Chirita, Andra Caragheorgheopol, Carol Davila, Mara Carsote, A. Goldstein, Catalina Poiana, C. I. Parhon, C. Procopiuc |
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| Rok vydání: | 2009 |
| Předmět: |
Gynecology
endocrine system medicine.medical_specialty Endocrine and Autonomic Systems Endocrinology Diabetes and Metabolism Karyotype Chromosomal translocation Biology Sex reversal medicine.disease Endocrinology medicine.anatomical_structure Testis determining factor Hypospadias Bifid scrotum Scrotum medicine X chromosome |
| Zdroj: | Acta Endocrinologica (Bucharest). 5:525-531 |
| ISSN: | 1843-066X 1841-0987 |
| DOI: | 10.4183/aeb.2009.525 |
| Popis: | Individuals with male phenotypes and 46 XX karyotype appear in about 1 of 20,000 births with clinical features varying from normal male appearance to sexual ambiguity and hermaphroditism. More than 80% of these patients present a spontaneous translocation of the SRY gene from the Y to the X chromosome in the paternal germinal cells. We present a case of a 2 years old boy diagnosed with minor hypospadias, bifid scrotum, normal penis and palpable gonads in the scrotum. The karyotype is 46 XX and FISH analysis reveals SRY translocation on one of the X chromosomes. Ultrasound exam does not reveal any mullerian structures and a hCG test proves the testes to be functional. A short course of treatment with hCG is recommended in order to induce the proper development of the scotal sac. The patient will need monitoring, in order to identify the development of hypergonadic hypogonadism, which characterizes such patients in later life. This case underlines the importance of comprehensively investigating any patient with even minor genitalia anomalies. |
| Databáze: | OpenAIRE |
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