title: Spontaneous Recovery of Ovarian Function in an Adolescent with Galactosemia and Apparent Premature Ovarian Insufficiency.
abstract: BACKGROUND
  Galactosemia is an inborn error of metabolism resulting in premature ovarian insufficiency in 80-90% of females. There have been no reported cases of biochemical ovarian failure followed by normal menses.
  
  
  METHODS
  A 12-year-old girl with galactosemia presented for gynecologic consultation. Her follicle-stimulating hormone (FSH) and estradiol levels were 52.9 U/L and less than 100 pmol/L, respectively. She started exogenous estrogen to stimulate puberty. At 16, she had spontaneous regular menstrual cycles. FSH and luteinizing hormone (LH) levels reflected normal ovarian function. Hormonal contraception was provided. One year later, she was found to be in ovarian failure (FSH 86.6 U/L, LH 33.3 U/L), and both estradiol and anti-Müllerian hormone were undetectable.
  
  
  CONCLUSIONS
  This case documents spontaneous resumption of ovarian function after galactosemia-related ovarian failure. The use of FSH and LH is potentially limited in predicting ovarian function in this population.
authors.affiliation: Department of Obstetrics and Gynecology, Queens University, Kingston, Ontario, Canada.
authors.forename: Paul
authors.initials: P
authors.lastname: Davies
authors.affiliation: Department of Pediatric Endocrinology, University of Wisconsin, Madison, Wisconsin.
authors.forename: Ellen
authors.initials: E
authors.lastname: Connor
authors.affiliation: Department of Medical Genetics, Queens University, Kingston, Ontario, Canada.
authors.forename: Jennifer
authors.initials: J
authors.lastname: MacKenzie
authors.affiliation: Department of Obstetrics and Gynecology, Queens University, Kingston, Ontario, Canada. Electronic address: maj3@queensu.ca.
authors.forename: Mary Anne
authors.initials: MA
authors.lastname: Jamieson
mesh_terms: D002648:Child; D004958:Estradiol / Q000627:therapeutic use; D004967:Estrogens / Q000627:therapeutic use; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D005693:Galactosemias / Q000150:complications* / Q000188:drug therapy / Q000378:metabolism; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008597:Menstrual Cycle; D010049:Ovarian Diseases / Q000188:drug therapy; D010053:Ovary / Q000502:physiology*; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000150:complications* / Q000188:drug therapy; D020127:Recovery of Function; D012741:Sexual Maturation
chemical_list: D004967:Estrogens; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
keywords: Anti-mullerian Hormone; Delayed Puberty; Galactosemia; Hypergonadotropic Hypogonadism; Ovarian Failure; Primary Ovarian Insufficiency