A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17α-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CYP17 Gene Mutations

摘要

References(28) Cited-By(13) We report the case of a 17-year-old boy with delayed puberty, who presented a complexity of clinical problems. An analysis of steroid hormones led to a diagnosis of 17α-hydroxylase/17, 20-lyase deficiency (17OHD) .Unlike typical cases of 17OHD, however, the patient had pubertal development without medical intervention. I naddition, he never exhibited the symptoms of mineralocorticoid excess, showing instead the symptoms of glucocorticoiddeficiency, including fatigability, emaciation, and weight-loss induced by minor infection. He also had dysmorphic features, which comprised marfanoid habitus, arachnodactyly and putative craniosynostosis. The combination of these malformations substantially resembled that of Shprintzen-Goldberg syndrome. Direct sequencing o fthe CYP17 gene did not reveal any significant aberrations in the exons or exon-intron boundaries. We speculate tha tthe association of partial combined 17OHD with the Shprintzen-Goldberg phenotype in the present patient may resultfrom an aberration of a hitherto unknown gene that controls both steroid hormone synthesis and skeletal development.