Abstract
Two sisters with transferase deficiency galactosaemia presented with hypergonadotropic hypogonadism. In the younger girl galactosaemia was documented first at 9 months of age, although she had never been exposed to exogenous galactose in utero or after birth.
MeSH terms
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Child, Preschool
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Estradiol / blood
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Female
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Follicle Stimulating Hormone / blood
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Galactosemias / blood
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Galactosemias / complications
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Galactosemias / genetics*
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Humans
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Hypogonadism / blood
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Hypogonadism / etiology
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Hypogonadism / genetics*
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Infant
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Luteinizing Hormone / blood
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UTP-Hexose-1-Phosphate Uridylyltransferase / deficiency
Substances
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Estradiol
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Luteinizing Hormone
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Follicle Stimulating Hormone
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UTP-Hexose-1-Phosphate Uridylyltransferase