17-beta-hydroxysteroid dehydrogenase deficiency historical perspective
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17 beta hydroxysteroid dehydrogenase III defiency is initially described in 1971 by Saez and his colleagues. Patients with XY chromosomes usually present at birth with female or ambiguous external genitalia. Two important features of this disease are the presence of epididymus, vas deferens, and seminal vesicles and the progressive virilization at the time of puberty. The gene encoding 17beta-HSD3 contains 11 exons and has been cloned and mapped to chromosome 9q22. To date, a total of 20 mutations of the HSD17B3 gene have been identified, including sixteen missense mutations, three splice junction abnormalities, and one small deletion that results in a frame shift mutation. Genetically, patients can be homozygous or compound heterozygous.[1]
References
- ↑ Mains LM, Vakili B, Lacassie Y, Andersson S, Lindqvist A, Rock JA (2008). "17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite". Fertil Steril. 89 (1): 228.e13–7. doi:10.1016/j.fertnstert.2007.02.048. PMC 2259022. PMID 17509588.