title: The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism.
abstract: OBJECTIVE
  There has been much debate concerning the relative contribution of insulin resistance to the development of polycystic ovaries (PCO). We therefore aimed to assess ovarian morphology and insulin/androgen status in females with the hepatic glycogen storage diseases types Ia (GSD-Ia) and III (GSD-III), disorders associated with abnormalities of insulin secretion.
  
  
  METHODS
  A cross-sectional study of ovarian ultrasonography, oral glucose tolerance tests (oGTTs) and single measurements of gonadotrophins and androgens were performed.
  
  
  METHODS
  Twenty-seven patients were evaluated: 13 with GSD-Ia, median age 11.2 years (range, 3.3-26.7) and 14 with GSD-III, aged 13.2 years (4.2-31.3). None had clinical signs of hyperandrogenism and only two of the 13 adults (15%) had menstrual irregularities. They were compared to 9 normal adult female controls, aged 21-28 years.
  
  
  METHODS
  Ovarian morphology and volume were measured. Blood glucose and plasma insulin concentrations were measured at the beginning and end of a 2-hour oGTT. Single measures of LH, FSH, testosterone, dehydroepiandrosterone sulphate, androstenedione, IGF-I and SHBG were made on samples taken at the beginning of the oGTT.
  
  
  RESULTS
  In both GSD-Ia and III, all those older than 4.8 years of age had a polycystic ovarian appearance. Pre-pubertal GSD-Ia patients had lower basal and 2-hour blood glucose and plasma insulin concentrations than pre-pubertal GSD-III patients. In adults with GSD-Ia and GSD-III, although basal and 2-hour blood glucose concentrations did not differ, both basal and 2-hour plasma insulin concentrations were significantly higher than controls. Serum gonadotrophins, androgens, IGF-I and SHBG were mostly normal.
  
  
  CONCLUSIONS
  A polycystic ovarian appearance is a common finding in patients with glycogen storage disease even before puberty. In GSD-III and adults with GSD-Ia, this ovarian appearance was associated with hyperinsulinism, suggesting an aetiological link, but this was not the case in pre-pubertal children with GDS-Ia. Inborn errors of carbohydrate metabolism may act as useful models for examining control mechanisms of ovarian physiology and development.
authors.affiliation: London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Lee
authors.forename: A
authors.initials: A
authors.lastname: Patel
authors.forename: P C
authors.initials: PC
authors.lastname: Hindmarsh
authors.forename: A P
authors.initials: AP
authors.lastname: Mowat
authors.forename: J V
authors.initials: JV
authors.lastname: Leonard
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications*; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology; D006010:Glycogen Storage Disease Type III / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications* / Q000000981:diagnostic imaging; D011085:Polycystic Ovary Syndrome / Q000000981:diagnostic imaging / Q000209:etiology*; D015995:Prevalence; D014463:Ultrasonography