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Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia.
Int J Mol Sci. 2019 Oct 22; 20(20)IJ

Abstract

Classical galactosaemia (CG) (OMIM 230400) is a rare inborn error of galactose metabolism caused by the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT, EC 2.7.7.12). Primary ovarian insufficiency (POI) is the most common long-term complication experienced by females with CG, presenting with hypergonadotrophic hypoestrogenic infertility affecting at least 80% of females despite new-born screening and lifelong galactose dietary restriction. In this review, we describe the hypothesized pathophysiology of POI from CG, implications of timing of the ovarian dysfunction, and the new horizons and future prospects for treatments and fertility preservation.

Authors+Show Affiliations

National Centre for Inherited Metabolic Disorders, Adult Services, Mater Misericordiae University Hospital, Dublin, Ireland. zazaabidin@mater.ie.National Centre for Inherited Metabolic Disorders, Adult Services, Mater Misericordiae University Hospital, Dublin, Ireland. etreacy@mater.ie. Department of Paediatrics, Trinity College Dublin, Dublin, Ireland. etreacy@mater.ie. School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland. etreacy@mater.ie.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31652573

Citation

Abidin, Zaza, and Eileen P. Treacy. "Insights Into the Pathophysiology of Infertility in Females With Classical Galactosaemia." International Journal of Molecular Sciences, vol. 20, no. 20, 2019.
Abidin Z, Treacy EP. Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia. Int J Mol Sci. 2019;20(20).
Abidin, Z., & Treacy, E. P. (2019). Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia. International Journal of Molecular Sciences, 20(20). https://doi.org/10.3390/ijms20205236
Abidin Z, Treacy EP. Insights Into the Pathophysiology of Infertility in Females With Classical Galactosaemia. Int J Mol Sci. 2019 Oct 22;20(20) PubMed PMID: 31652573.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia. AU - Abidin,Zaza, AU - Treacy,Eileen P, Y1 - 2019/10/22/ PY - 2019/09/27/received PY - 2019/10/14/revised PY - 2019/10/16/accepted PY - 2019/10/27/entrez PY - 2019/10/28/pubmed PY - 2020/3/4/medline KW - classical galactosaemia KW - fertility preservation KW - pathophysiology KW - primary ovarian insufficiency JF - International journal of molecular sciences JO - Int J Mol Sci VL - 20 IS - 20 N2 - Classical galactosaemia (CG) (OMIM 230400) is a rare inborn error of galactose metabolism caused by the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT, EC 2.7.7.12). Primary ovarian insufficiency (POI) is the most common long-term complication experienced by females with CG, presenting with hypergonadotrophic hypoestrogenic infertility affecting at least 80% of females despite new-born screening and lifelong galactose dietary restriction. In this review, we describe the hypothesized pathophysiology of POI from CG, implications of timing of the ovarian dysfunction, and the new horizons and future prospects for treatments and fertility preservation. SN - 1422-0067 UR - https://www.unboundmedicine.com/medline/citation/31652573/Insights_into_the_Pathophysiology_of_Infertility_in_Females_with_Classical_Galactosaemia_ L2 - https://www.mdpi.com/resolver?pii=ijms20205236 DB - PRIME DP - Unbound Medicine ER -
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