Spontaneous Recovery of Ovarian Function in an Adolescent with Galactosemia and Apparent Premature Ovarian Insufficiency.

Autor: Davies P; Department of Obstetrics and Gynecology, Queens University, Kingston, Ontario, Canada., Connor E; Department of Pediatric Endocrinology, University of Wisconsin, Madison, Wisconsin., MacKenzie J; Department of Medical Genetics, Queens University, Kingston, Ontario, Canada., Jamieson MA; Department of Obstetrics and Gynecology, Queens University, Kingston, Ontario, Canada. Electronic address: maj3@queensu.ca.
Jazyk: angličtina
Zdroj: Journal of pediatric and adolescent gynecology [J Pediatr Adolesc Gynecol] 2015 Aug; Vol. 28 (4), pp. e101-3. Date of Electronic Publication: 2014 Sep 16.
DOI: 10.1016/j.jpag.2014.09.003
Abstrakt: 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.
Case: 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.
Summary and 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.
(Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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