title: Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement.
abstract: BACKGROUND
  Aromatase deficiency may result in a complete block of estrogen synthesis because of the failure to convert androgens to estrogens. In females, this results in virilisation at birth, ovarian cysts in prepuberty and lack of pubertal development but virilisation, thereafter.
  
  
  OBJECTIVE
  We studied the impact of oral 17β-estradiol treatment on ovarian and uterine development, and on LH/FSH and inhibin B during the long-term follow-up of a girl harboring compound heterozygote point mutations in the CYP19A1 gene.
  
  
  RESULTS
  In early childhood, low doses of oral 17β-estradiol were needed. During prepuberty treatment with slowly increasing doses of E2 resulted in normal uterine and almost normal development of ovarian volume, as well as number and size of follicles. Regarding hormonal feedback mechanisms, inhibin B levels were in the upper normal range during childhood and puberty. Low doses of estradiol did not suffice to achieve physiological gonadotropin levels in late prepuberty and puberty. However, when estradiol doses were further increased in late puberty levels of both FSH and LH declined with estradiol levels within normal range.
  
  
  CONCLUSIONS
  Complete aromatase deficiency provides an excellent model of how ovarian and uterine development in relation to E2, LH, FSH and inhibin B feedback progresses from infancy to adolescence.
authors.affiliation: Pediatric Endocrinology, Diabetology and Metabolism, University Children's Hospital , Inselspital, Bern , Switzerland and.
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Burckhardt
authors.forename: Verena
authors.initials: V
authors.lastname: Obmann
authors.forename: Rainer
authors.initials: R
authors.lastname: Wolf
authors.forename: Marco
authors.initials: M
authors.lastname: Janner
authors.forename: Christa E
authors.initials: CE
authors.lastname: Flück
authors.forename: Primus E
authors.initials: PE
authors.lastname: Mullis
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000188:drug therapy* / Q000378:metabolism; D000284:Administration, Oral; D000293:Adolescent; D001141:Aromatase / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004958:Estradiol / Q000008:administration & dosage*; D015914:Estrogen Replacement Therapy / Q000379:methods*; D004967:Estrogens / Q000627:therapeutic use*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000378:metabolism; D006177:Gynecomastia / Q000188:drug therapy* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007248:Infertility, Male / Q000188:drug therapy* / Q000378:metabolism; D007265:Inhibins / Q000378:metabolism; D007986:Luteinizing Hormone / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000378:metabolism; D010053:Ovary / Q000254:growth & development*; D012189:Retrospective Studies; D014599:Uterus / Q000254:growth & development*
chemical_list: D004967:Estrogens; C422364:inhibin B; D004958:Estradiol; D007265:Inhibins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D001141:Aromatase; C561410:CYP19A1 protein, human
keywords: Aromatase; estradiol treatment; gonadotrophic axis; inhibin B; ovarian and uterine development; ovarian cysts