Objective To explore the clinical and genetic characteristics of 17α-hydroxylase/17,20-lyase deficiency(17OHD)in childhood.Methods The clinical features,laboratory and imaging examination results,gene mutation characteristics of 4 children diagnosed with 17OHD in Children's Hospital Affiliated to Zhengzhou University from January 2016 to December 2022 were retrospectively analyzed,and the literature was reviewed and summarized.Results At the time of diagnosis,the age of 4 children ranged from 11 months and 21 days to 10 years and 6 months.All patients had karyotypes of 46,XY.Social gender:1 male and 3 females.The chief complaints were 1 case of short penis,1 case of inguinal mass,and 2 cases of grade 2 hypertension,and 3 cases of testes were found in scrotum,groin and inguinal annulus,respectively.The levels of cortisol,testosterone,and androstenedione decreased at 8 o'clock in 4 children,while the levels of adrenocorticotropic hormone,progesterone,luteinizing hormone,and follicle stimulating hormone increased.17 hydroxyprogesterone was normal.Mild decrease in blood potassium levels(3.44-3.48 mmol/L)was found in 3 cases.One case of CYP17A1 homozygous mutation and three cases of compound heterozygous mutation were found,among which c.563 A＞G and c.436+1G＞T were new mutation sites that had not been reported in the past,and 3 cases had c.985_987delinsAA mutation.All 4 cases received oral hydrocortisone treatment.Conclusions Abnormal external genitalia,inguinal/labial mass and hypertension are the main features of 46,XY type 17OHD in childhood.Early hydrocortisone replacement therapy can effectively prevent the complications of 17OHD.The CYP17A1 c.985_987delinsAA mutation may be a hot topic mutation in children with 17OHD in China.

Objective:To investigate the clinical and molecular characteristics of 11β-hydroxylase deficiency(11β-OHD) to improve the understanding of this disorder.Methods:The clinical manifestation, hormone level, imaging examination, characteristics of gene variation and follow-up of five patients with 11β-OHD diagnosed in Henan Children′s Hospital from 2016 to 2021 were carefully reviewed.Results:Among the 5 children, 3 were male and 2 were female, all without positive family history. The age at diagnosis was 1 year 5 months to 7 years(average 3 years and 9 months), and the bone age was 3 years 6 months to 16 years(average 10 years and 3 months). Two cases were misdiagnosed as 21-hydroxylase deficiency(21-OHD) and treated with long-term mineralocorticoids. Three patients presented with hypertension and one patient had testicular adrenal rest tumor. Adrenal CT showed bilateral adrenal hyperplasia in five patients. ACTH, 17-hydroxyprogesterone, testosterone, and androstenedione levels were increased in 5 children, and hypokalemia occurred in 1 patient. One patient carried homozygous novel missense variant, and four patients had compound heterozygous variants. Four patients carried missence mutations, two patients had deletion and one patient harbored a chimeric CYP11B2 exon1-6/CYP11B1 exon7-9. Three novel CYP11B1 mutations, including c. 1385T>C(p.L462P), c.64C>T(p.Q22*)and c. 1354G>A(p.G452R) were identified. The final height of 2 male children were 164.4 cm and 150.2 cm, respectively, and the related hormone levels of the other 3 children were normal.Conclusion:11β-OHD is easily misdiagnosed, leading to severe impairment of final height. CYP11B1 gene variation is complex and diverse, which requires variety of gene detection methods.