Clinical characteristics and LC-MS/MS method for measurement of steroid hormones in rare type of hereditary adrenal disease in children
Objective Summarize the clinical characteristics and liquid chromatography tandem-mass spectrometry(LC-MS/MS)method for the measurement of steroid hormones in 6 cases of hereditary adrenal diseases in children,and analyze the advantages and disadvantages of LC-MS/MS method in detecting steroid hormones in clinical applications.Methods We retrospectively analysed the clinical data of 6 cases of rare adrenal disease admitted to Henan Children's Hospital and summarized their clinical manifestations,auxiliary examinations,diagnosis and mutational spectrum from May 2020 to March 2022.Results Through gene sequencing,they were diagnosed as 11-βHydroxylase deficiency(11β-OHD),17α-Hydroxylase deficiency(17α-OHD),21 hydroxylase deficiency(21-OHD),cytochrome P450 oxidoreductase deficiency(PORD),lipoid congenital adrenal hyperplasia(LCAH)and X-linked adrenal hypoplasia congenita(AHC)respectively.Among the 6 patients,2 were male and 4 were female.Their diagnosed age was from 1 month and 20 days to 10 years.The children with 11β-OHD and PORD were admitted to department because of the cli-torism.The children with 21-OHD,17-OHD,LCAH and AHC were urged to clinic due to"accelerated growth,vice broke,and testicular mass","hypertention","jaundice"and"pigmentation"respectively.Steroid hormones were detec-ted by LC-MS/MS,and 11β-OHD showed that 11-deoxycortisol and 11-deoxycorticosterone increased signifi-cantly,17α-Hydroxyprogesterone(17 α-Hydroxyprogesterone,17 OHP)slightly increased,17α-OHD showed the increase of pregnenolone,progesterone,11-deoxycorticosterone and corticosterone,the decrease of 17-OHP and cortisol,21-OHD showed the obvious increase of 21-deoxycorticosterone,17-OHP,testosterone,androstenedione and 17-hydroxypregnenolone,PORD showed the increase of progesterone,17-OHPand 21-deoxycorticosterone,tes-tosterone was in normal range,LCAH shows the decrease of all steroid hormones.The child with AHC showed the 11-deoxycortisol,11-deoxycorticosterone and androstenedione increased slightly,and he had normal cortisol.Gene muta-tions were detected in all the patients.CYP11 B1 c.1385T＞C p.(L462P)and c.64C＞T p.(Q22*)compound heter-ozygous mutation,CYP17A1 c.985_987delinsAA p.(Y329Kfs*90)homozygous mutation,CYP21A2 c.293-13A/C＞G(I2G)and c.1451_1452delinsC p.(R484Pfs*58)compound heterozygous mutation,POR c.1370G＞A p.(R457H)homozygous mutation,StAR c.465+2T＞A and c.229C＞T p.(Q77X)compound heterozygous mutation,NR0B1 c.209delG p.(G70fs*15)hemizygous mutation were detected in all the patients respectively,among the mutations,CYP11B1 c.64C＞Tp.(Q22*)and NR0B1 c.209delG p.(G70fs*15)were novel mutation.Conclusion The clini-cal manifestations and classification of adrenal diseases in children are complex.In order to avoid misdiagnosis,it is necessary to combine the clinical manifestations with auxiliary examinations for diagnosis;LC-MS/MS is fast,accurate and sensitive in detecting steroid hormone,it can provide guidance for clinicians in diagnosis and typing.
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