title: [Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency].
abstract: OBJECTIVE
  To explore the clinical and genetic characteristics of an infant with isolated 17, 20-lyase deficiency.
  
  
  METHODS
  The clinical, biochemical and genetic characteristics were analyzed in an 8-month-old infant with 46, XY gonadal dysgenesis who presented predominantly the female external genitalia.
  
  
  RESULTS
  The infant was referred because of"masses in bilateral inguinal region and 46, XY gonadal dysgenesis". He was normotensive. Laboratory tests revealed elevated levels of progesterone and 17-hydroxyprogesterone. The detailed parameters are as follows: progesterone 29.35(reference range 0.09-1.0)nmol/L, 17-hydroxyprogesterone 10.9(reference range 0.6-2.6)nmol/L, testosterone 0.7(reference range 0.1-3.1)nmol/L, dehydroepiandrosterone sulfate <0.15(reference range 0.80-5.6)mg/L, androstenedione <0.3 (reference range 0.6-3.1) μg/L, luteinizing hormone 6.6(reference range 0.6-1.7)U/L, follicle stimulating hormone 1.8 (reference range 0.5-3.7)U/L, estradiol 37.66(reference range 73.4-146.8)pmol/L. The patient had normal levels of serum sodium, potassium, corticosteroid and plasma adrenocorticotropic hormone. Genomic DNA was extracted from the leukocytes of peripheral blood of the patient and subjected to next generation sequencing (NGS) for testing more than 200 sexual development related genes. Sanger sequencing was used to confirm the results of NGS. Genetic analysis revealed that the patient harbored compound heterozygous mutations of c. 1226C>G (p.Pro409Arg, P409R) and c. 707T>G (p.Val236Gly, V236G) in CYP17A1 gene derived from paternal and maternal allele. V236G was a novel mutation predicted to be pathogenic. The infant was diagnosed as isolated 17, 20-lyase deficiency combined with clinical and molecular characteristics of CYP17A1 gene.
  
  
  CONCLUSIONS
  We have identified the compound heterozygous mutations of P409R and V236G in the CYP17A1 gene in one infant with isolated 17, 20-lyase deficiency. He presented with 46, XY gonadal dysgenesis, normal blood pressure and elevated concentration of progesterone and 17-hydroxyprogesterone.
authors: Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Pediatric Research, Shanghai 200092, China.
authors: D Y
authors: DY
authors: Zhou
authors: W J
authors: WJ
authors: Qiu
authors: M S
authors: MS
authors: Xu
authors: J H
authors: JH
authors: Luo
authors: J
authors: J
authors: Ye
authors: L S
authors: LS
authors: Han
authors: H W
authors: HW
authors: Zhang
authors: Y G
authors: YG
authors: Yu
authors: L L
authors: LL
authors: Liang
authors: X F
authors: XF
authors: Gu
mesh_terms: D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital; D000735:Androstenedione; D004958:Estradiol; D005640:Follicle Stimulating Hormone; D005820:Genetic Testing; D006061:Gonadal Dysgenesis, 46,XY; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D007986:Luteinizing Hormone; D008190:Lyases; D008297:Male; D009154:Mutation; D011374:Progesterone; D013254:Steroid 17-alpha-Hydroxylase; D013737:Testis / Q000002:abnormalities*; D013739:Testosterone
chemical_list: D013739:Testosterone; D000735:Androstenedione; D011374:Progesterone; D004958:Estradiol; D019326:17-alpha-Hydroxyprogesterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013254:Steroid 17-alpha-Hydroxylase; D008190:Lyases