title: [A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts].
abstract: OBJECTIVE
  3β- hydroxysteroid dehydrogenase deficiency (3βHSD), a rare form of congenital adrenal hyperplasia (CAH) resulted from mutations in the HSD3B2 gene that impair steroidogenesis in both adrenals and gonads. We report clinical features and the results of HSD3B2 gene analysis of a Chinese pubertal girl with salt wasting 3βHSD deficiency.
  
  
  METHODS
  We retrospectively reviewed clinical presentations and steroid profiles of the patient diagnosed in Guangzhou Women and Children's Medical Center in 2013. PCR and direct sequencing were used to identify any mutation in the HSD3B2 gene.
  
  
  RESULTS
  A 13-year-old girl was diagnosed as CAH after birth because of salt-wasting with mild clitorimegaly and then was treated with glucocorticoid replacement. Breast and pubic hair development were normal, and menarche occurred at 12 yr, followed by menstrual bleeding about every 45 days. In the last one year laparoscopic operation and ovariocentesis were performed one after another for recurrent ovary cysts. Under corticoid acetate therapy, ACTH 17.10 pmol/L (normal 0-10.12), testosterone 1.31 nmol/L (normal <0.7), dehydroepiandrosterone sulfate 13.30 µmol/L (normal 0.95 - 11.67), cortisol 720 nmol/L (normal 130-772.8), androstenedione, 17-hydroxyprogesterone and progesterone were normal. Estradiol 461 pmol/L, follicle-stimulating hormone 3.04 IU/L, luteinizing hormone 8.52 IU/L in follicular phase. A pelvic ultrasound showed lateral ovaries cysts (58 mm × 50 mm × 35 mm) and a midcycle-type endometrium. A novel nonsense mutation c.73G >T (p.E25X) was identified in HSD3B2 gene. The girl was homozygous and her mother was heterozygous, while her father was not identified with this mutation.
  
  
  CONCLUSIONS
  A classic 3βHSD deficiency is characterized by salt wasting and mild virilization in female. Ovary cysts may be the one of features of gonad phenotype indicating ovary 3βHSD deficiency. A novel homozygous mutation c.73G >T(p.E25X) was related to the classical phenotype.
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China.
authors.forename: Yonglan
authors.initials: Y
authors.lastname: Huang
authors.forename: Jipeng
authors.initials: J
authors.lastname: Zheng
authors.forename: Ting
authors.initials: T
authors.lastname: Xie
authors.forename: Qing
authors.initials: Q
authors.lastname: Xiao
authors.forename: Shaomei
authors.initials: S
authors.lastname: Lu
authors.forename: Xiuzhen
authors.initials: X
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.forename: Lihe
authors.initials: L
authors.lastname: Chen
authors.forename: Li
authors.initials: L
authors.lastname: Liu
mesh_terms: D019326:17-alpha-Hydroxyprogesterone; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics*; D000735:Androstenedione; D002681:China; D018389:Codon, Nonsense; D057210:Delayed Diagnosis; D005260:Female; D005640:Follicle Stimulating Hormone; D006720:Homozygote; D006801:Humans; D006854:Hydrocortisone; D007986:Luteinizing Hormone; D009154:Mutation / Q000235:genetics*; D010048:Ovarian Cysts / Q000235:genetics*; D011375:Progesterone Reductase / Q000235:genetics*; D012008:Recurrence; D012189:Retrospective Studies
chemical_list: D018389:Codon, Nonsense; D000735:Androstenedione; D019326:17-alpha-Hydroxyprogesterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; C533068:3 beta-hydroxysteroid dehydrogenase type II; D011375:Progesterone Reductase; D006854:Hydrocortisone