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Partial 17[alpha]-hydroxylase/17,20-lyase deficiency - clinical report of five Chinese 46,XX cases

Abstract

Objectives. To summarize the clinical characteristics of partial 17α-hydroxylase/17,20-lyase deficiency (17OHD) in 46,XX Chinese patients.

Methods. Five cases of 46,XX partial 17OHD from Peking Union Medical College Hospital were studied retrospectively by summarizing and analyzing their clinical data. The molecular pathogenic mechanisms involved are discussed after reviewing the literature.

Results. Both complete and partial 17OHD patients have hypergonadotropic hypogonadism and elevated serum levels of adrenocorticotropic hormone and mineralocorticoids. The clinical characteristics of partial 17OHD are different from those of complete 17OHD; patients with the former having ...

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