Ovarian function in girls and women with GALT-deficiency galactosemia

Judith L. Fridovich-Keil; Cynthia S. Gubbels; Jessica B. Spencer; Rebecca D. Sanders; Jolande A. Land; Estela Rubio-Gozalbo

doi:10.1007/s10545-010-9221-4

Ovarian function in girls and women with GALT-deficiency galactosemia

Judith L. Fridovich-Keil^*, Cynthia S. Gubbels, Jessica B. Spencer, Rebecca D. Sanders, Jolande A. Land, Estela Rubio-Gozalbo

^*Corresponding author for this work

Reproductive Origins of Adult Health and Disease (ROAHD)

Research output: Contribution to journal › Article › Academic › peer-review

109 Citations (Scopus)

Abstract

Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.

Original language	English
Pages (from-to)	357-366
Number of pages	10
Journal	Journal of Inherited Metabolic Disease
Volume	34
Issue number	2
DOIs	https://doi.org/10.1007/s10545-010-9221-4
Publication status	Published - Apr-2011

Keywords

FRAGILE-X PREMUTATION
TUMOR-SUPPRESSOR GENE
CLASSICAL GALACTOSEMIA
HYPERGONADOTROPIC HYPOGONADISM
GONADAL-FUNCTION
HORMONE-THERAPY
DEFECTIVE GALACTOSYLATION
SERUM TRANSFERRIN
PRENATAL EXPOSURE
FEMALE-PATIENTS

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title = "Ovarian function in girls and women with GALT-deficiency galactosemia",

abstract = "Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.",

keywords = "FRAGILE-X PREMUTATION, TUMOR-SUPPRESSOR GENE, CLASSICAL GALACTOSEMIA, HYPERGONADOTROPIC HYPOGONADISM, GONADAL-FUNCTION, HORMONE-THERAPY, DEFECTIVE GALACTOSYLATION, SERUM TRANSFERRIN, PRENATAL EXPOSURE, FEMALE-PATIENTS",

author = "Fridovich-Keil, {Judith L.} and Gubbels, {Cynthia S.} and Spencer, {Jessica B.} and Sanders, {Rebecca D.} and Land, {Jolande A.} and Estela Rubio-Gozalbo",

year = "2011",

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doi = "10.1007/s10545-010-9221-4",

language = "English",

volume = "34",

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journal = "Journal of Inherited Metabolic Disease",

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T1 - Ovarian function in girls and women with GALT-deficiency galactosemia

AU - Fridovich-Keil, Judith L.

AU - Gubbels, Cynthia S.

AU - Spencer, Jessica B.

AU - Sanders, Rebecca D.

AU - Land, Jolande A.

AU - Rubio-Gozalbo, Estela

PY - 2011/4

Y1 - 2011/4

N2 - Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.

AB - Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.

KW - FRAGILE-X PREMUTATION

KW - TUMOR-SUPPRESSOR GENE

KW - CLASSICAL GALACTOSEMIA

KW - HYPERGONADOTROPIC HYPOGONADISM

KW - GONADAL-FUNCTION

KW - HORMONE-THERAPY

KW - DEFECTIVE GALACTOSYLATION

KW - SERUM TRANSFERRIN

KW - PRENATAL EXPOSURE

KW - FEMALE-PATIENTS

U2 - 10.1007/s10545-010-9221-4

DO - 10.1007/s10545-010-9221-4

M3 - Article

SN - 0141-8955

VL - 34

SP - 357

EP - 366

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -

Ovarian function in girls and women with GALT-deficiency galactosemia

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Keywords

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