title: Ovarian function in Duarte galactosemia.
abstract: OBJECTIVE
  To determine if girls with Duarte variant galactosemia (DG) have an increased risk of developing premature ovarian insufficiency based on prepubertal anti-Müllerian hormone (AMH) levels.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  University research laboratory.
  
  
  METHODS
  Study volunteers included 57 girls with DG, 89 girls with classic galactosemia (GG), and 64 control girls between the ages of <1 month and 10.5 years.
  
  
  METHODS
  Blood sampling.
  
  
  METHODS
  We determined AMH and FSH levels in study volunteers with and without Duarte variant or GG.
  
  
  RESULTS
  FSH levels were significantly higher and AMH levels significantly lower in girls with GG than in age-stratified control girls, but there was no significant difference between FSH and AMH levels in girls with DG and control girls.
  
  
  CONCLUSIONS
  Although >80% of girls with GG in this study demonstrated low to undetectable AMH levels consistent with diminished ovarian reserve, 100% of girls with DG in our study demonstrated no apparent decrease in AMH levels or increase in FSH levels, suggesting that these girls are not at increased risk for premature ovarian insufficiency.
authors: Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.
authors: Jennifer R
authors: JR
authors: Badik
authors: Uriel
authors: U
authors: Castañeda
authors: Tyler J
authors: TJ
authors: Gleason
authors: Jessica B
authors: JB
authors: Spencer
authors: Michael P
authors: MP
authors: Epstein
authors: Can
authors: C
authors: Ficicioglu
authors: Kristi
authors: K
authors: Fitzgerald
authors: Judith L
authors: JL
authors: Fridovich-Keil
mesh_terms: D054304:Anti-Mullerian Hormone / Q000097:blood; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D043373:Follicle Stimulating Hormone, Human / Q000097:blood; D005693:Galactosemias / Q000097:blood / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016014:Linear Models; D010053:Ovary / Q000378:metabolism / Q000503:physiopathology*; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000209:etiology* / Q000503:physiopathology; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D015415:Biomarkers; D043373:Follicle Stimulating Hormone, Human; D054304:Anti-Mullerian Hormone