Abstract
BackgroundOur study aims to summarize the clinical characteristics of rare types of congenital adrenal hyperplasia (CAH) other than 21-hydroxylase deficiency (21-OHD), and to explore the clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry (LC-MS/MS) in rare CAH.MethodsWe retrospectively analysed the clinical data of 5 rare cases of CAH admitted to our hospital and summarized their clinical manifestations, auxiliary examinations, diagnosis and mutational spectrum.ResultsAfter gene sequencing, complex heterozygous variants were detected in all patients (2 cases were lipoid congenital adrenal hyperplasia (LCAH), 11β-hydroxylase deficiency (11β-OHD), 3β-hydroxysteroid dehydrogenase deficiency (3β-HSD deficiency) and P450 oxidoreductase deficiency (PORD) each accounted for 1 case), which were consistent with their clinical manifestations. Among them, 4 novel variants were detected, including c.650 + 2 T > A of the StAR gene, c.1145 T > C (p. L382P) of the CYP11B1 gene, c.1622C > T (p. A541V) and c.1804C > T (p. Q602 *) of the POR gene. The LC-MS/MS results for steroid hormones in patients were also consistent with their genetic variants: 2 patients with LCAH showed a decrease in all steroid hormones; 11β-OHD patient showed a significant increase in 11-deoxycortisol and 11-deoxycorticosterone; patient with 3β-HSD deficiency showed a significant increase in DHEA; and PORD patient was mainly characterized by elevated 17OHP, progesterone and impaired synthesis of androgen levels.ConclusionsThe clinical manifestations and classification of CAH are complicated, and there are cases of missed diagnosis or misdiagnosis. It’s necessary to combine the analysis of clinical manifestations and auxiliary examinations for diagnosis; if necessary, LC-MS/MS analysis of steroid hormones or gene sequencing is recommended for confirming diagnosis and typing.
Highlights
Our study aims to summarize the clinical characteristics of rare types of congenital adrenal hyperplasia (CAH) other than 21-hydroxylase deficiency (21-OHD), and to explore the clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry (LC-MS/MS) in rare Congenital adrenal hyperplasia (CAH)
According to defective enzymes [4], CAH can be divided into 7 types, among which 21-OHD is the most common type (90 to 95%), 11β -OHD accounts for approximately 5–8%, 17-OHD and 3β-HSD deficiency accounts for less than 1%, and other types of CAH are relatively rare worldwide (LCAH: about 200 cases, P450 oxidoreductase deficiency (PORD): about 130 cases, P450cc deficiency: only about 30 cases)
Genetic characteristics After gene sequencing, complex heterozygous variants were detected in all patients (2 cases were Lipoid congenital adrenal hyperplasia (LCAH), 11βOHD, 3β-HSD deficiency and PORD each accountingfor 1 case)
Summary
Our study aims to summarize the clinical characteristics of rare types of congenital adrenal hyperplasia (CAH) other than 21-hydroxylase deficiency (21-OHD), and to explore the clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry (LC-MS/MS) in rare CAH. According to defective enzymes (genes) [4], CAH can be divided into 7 types, among which 21-OHD is the most common type (90 to 95%), 11β -OHD accounts for approximately 5–8%, 17-OHD and 3β-HSD deficiency accounts for less than 1%, and other types of CAH are relatively rare worldwide (LCAH: about 200 cases, PORD: about 130 cases, P450cc deficiency: only about 30 cases). Due to the diversity and similarity of clinical manifestations, there are certain difficulties in the diagnosis of rare types of CAH, especially for their classification. With the application of LCMS/MS in the detection of steroid hormones, early diagnosis and classification of CAH have become possible. It’s believe that through the analysis of the corresponding steroid hormone profile, a preliminary differential diagnosis can be made between different types of CAH
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
