Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11β-Hydroxyandrosterone | Zendy

Yuhei Koyama | Zendy; Keiko Homma | Zendy; Maki Fukami | Zendy; Masayuki Miwa | Zendy; Kazushige Ikeda | Zendy; Tsutomu Ogata | Zendy; Tomonobu Hasegawa | Zendy; Mitsuru Murata | Zendy

Open Access

Two-Step Biochemical Differential Diagnosis of Classic 21-Hydroxylase Deficiency and Cytochrome P450 Oxidoreductase Deficiency in Japanese Infants by GC-MS Measurement of Urinary Pregnanetriolone/ Tetrahydroxycortisone Ratio and 11β-Hydroxyandrosterone

Author(s) -

Yuhei Koyama,

Keiko Homma,

Maki Fukami,

Masayuki Miwa,

Kazushige Ikeda,

Tsutomu Ogata,

Tomonobu Hasegawa,

Mitsuru Murata

Publication year - 2012

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2011.173286

Subject(s) - medicine , endocrinology , androstenedione , urine , differential diagnosis , metabolite , 21 hydroxylase , urinary system , creatinine , chemistry , congenital adrenal hyperplasia , pathology , androgen , hormone

The clinical differential diagnosis of classic 21-hydroxylase deficiency (C21OHD) and cytochrome P450 oxidoreductase deficiency (PORD) is sometimes difficult, because both deficiencies can have similar phenotypes and high blood concentrations of 17α-hydroxyprogesterone (17OHP). The objective of this study was to identify biochemical markers for the differential diagnosis of C21OHD, PORD, and transient hyper 17α-hydroxyprogesteronemia (TH17OHP) in Japanese newborns. We established a 2-step biochemical differential diagnosis of C21OHD and PORD.

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